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    DTNA dystrobrevin alpha [ Homo sapiens (human) ]

    Gene ID: 1837, updated on 3-Nov-2024

    Summary

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    Official Symbol
    DTNAprovided by HGNC
    Official Full Name
    dystrobrevin alphaprovided by HGNC
    Primary source
    HGNC:HGNC:3057
    See related
    Ensembl:ENSG00000134769 MIM:601239; AllianceGenome:HGNC:3057
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DTN; DRP3; DTN-A; LVNC1; MMCKR2; D18S892E
    Summary
    The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 27.5), heart (RPKM 10.7) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DTNA in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (34493312..34891844)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (34685119..35083714)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (32073276..32471808)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene nucleolar protein 4 Neighboring gene uncharacterized LOC124904279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:31802111-31802612 Neighboring gene uncharacterized LOC124904280 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:31864116-31864338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9393 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:32128465-32129021 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:32129022-32129577 Neighboring gene NANOG hESC enhancer GRCh37_chr18:32142500-32143095 Neighboring gene ribosomal protein L10a pseudogene 13 Neighboring gene uncharacterized LOC124904281 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:32239357-32239860 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:32239861-32240364 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:32427354-32428159 Neighboring gene Sharpr-MPRA regulatory region 11937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13217 Neighboring gene uncharacterized LOC105372061 Neighboring gene Sharpr-MPRA regulatory region 7107 Neighboring gene Sharpr-MPRA regulatory region 2105 Neighboring gene uncharacterized LOC124904282

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The syntrophin-dystrobrevin subcomplex in human neuromuscular disorders. Compton AG, et al. J Neuropathol Exp Neurol, 2005 Apr. PMID 15835271
    2. Localization of α-Dystrobrevin in Cajal Bodies and Nucleoli: A New Role for α-Dystrobrevin in the Structure/Stability of the Nucleolus. Hernández-Ibarra JA, et al. J Cell Biochem, 2015 Dec. PMID 25959029
    3. The genomic organization of human dystrobrevin. Sadoulet-Puccio HM, et al. Neurogenetics, 1997 May. PMID 10735273
    4. Alpha-Dystrobrevin and its associated proteins in human promyelocytic leukemia cells induced to apoptosis. Navakauskienė R, et al. J Proteomics, 2012 Jun 18. PMID 22507200
    5. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Ozawa E, et al. Muscle Nerve, 1998 Apr. PMID 9533777

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
      Title: Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.
    2. Oncogenic microRNA-301b regulates tumor repressor dystrobrevin alpha to facilitate cell growth, invasion and migration in esophageal cancer.
      Title: Oncogenic microRNA-301b regulates tumor repressor dystrobrevin alpha to facilitate cell growth, invasion and migration in esophageal cancer.
    3. Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.
      Title: Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation.
    4. DTNA promotes HBV-induced hepatocellular carcinoma progression by activating STAT3 and regulating TGFbeta1 and P53 signaling.
      Title: DTNA promotes HBV-induced hepatocellular carcinoma progression by activating STAT3 and regulating TGFβ1 and P53 signaling.
    5. Report left ventricular non-compaction associated with Barth Syndrome due to triple mutations in TAZ, DTNA, and SDHA genes in multiple members of one family.
      Title: Barth syndrome associated with triple mutation.
    6. we show for the first time localization of alpha-DB2 in nucleoli and Cajal bodies and provide evidence that a-DB2 is involved in the structure of nucleoli and might modulate nucleolar functions
      Title: Localization of α-Dystrobrevin in Cajal Bodies and Nucleoli: A New Role for α-Dystrobrevin in the Structure/Stability of the Nucleolus.
    7. our findings suggest that novel mutations in FAM136A and DTNA genes are probably causal variants in FMD.
      Title: Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.
    8. Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
      Title: Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.
    9. apoptosis-induction in HL-60 cells involves not only classical markers of apoptosis but also a network alpha-DB-associated proteins at the cell membrane, the cytoplasm and nucleus, affecting key cellular transport processes and cellular structure.
      Title: Alpha-Dystrobrevin and its associated proteins in human promyelocytic leukemia cells induced to apoptosis.
    10. Results suggest that alpha-dystrobrevin isoforms play a central role in cytoskeleton reorganization via their multiple interactions with actin and actin-associating proteins.
      Title: α-Dystrobrevin distribution and association with other proteins in human promyelocytic NB4 cells treated for granulocytic differentiation.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Left ventricular noncompaction 1
    MedGen: C1858725 OMIM: 604169 GeneReviews: Not available
    		Compare labs

    Variation

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    See Variation Viewer (GRCh37.p13)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of dystrobrevin, alpha (DTNA) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ96209

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables PDZ domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuromuscular synaptic transmission TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in striated muscle contraction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extrinsic component of cytoplasmic side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    dystrobrevin alpha
    Names
    dystrophin-related protein 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009201.1 RefSeqGene

      Range
      5023..403555
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_756

    mRNA and Protein(s)

    1. NM_001128175.2 → NP_001121647.1  dystrobrevin alpha isoform 9

      See identical proteins and their annotated locations for NP_001121647.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks an internal coding exon and multiple exons from the 3' end, and contains an alternate 3' exon, compared to variant 1. The resulting isoform (9) lacks an internal segment and has a much shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AI368045, BC005300, DA197970
      Consensus CDS
      CCDS56060.1
      UniProtKB/TrEMBL
      A0A7P0TAN3
      Related
      ENSP00000451516.2, ENST00000554864.7
      Conserved Domains (2) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    2. NM_001198938.2 → NP_001185867.1  dystrobrevin alpha isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the CDS and 3' UTR compared to variant 1. The resulting isoform (10) is shorter; it lacks two internal segments and has a longer and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AB209102, AK308410, BC005300, BC033969, BX103860, CF457303, DA197970
      Consensus CDS
      CCDS59312.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000470152.1, ENST00000598334.5
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    3. NM_001198939.2 → NP_001185868.1  dystrobrevin alpha isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the CDS compared to variant 1. The resulting isoform (11) lacks two internal segments but has an extra segment in a downstream region, compared to isoform 1.
      Source sequence(s)
      AC068506, AL833285, BC005300, DA197970
      Consensus CDS
      CCDS56061.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000382072.5, ENST00000399121.9
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam11068
      Location:414 → 502
      YlqD; YlqD protein

    4. NM_001198940.2 → NP_001185869.1  dystrobrevin alpha isoform 12

      See identical proteins and their annotated locations for NP_001185869.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the CDS compared to variant 1. The resulting isoform (12) lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AB209102, AC068506, DA197970
      Consensus CDS
      CCDS59311.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000473078.1, ENST00000595022.5
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    5. NM_001198941.2 → NP_001185870.1  dystrobrevin alpha isoform 13

      See identical proteins and their annotated locations for NP_001185870.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the CDS, lacks multiple exons from the 3' UTR and contains an alternate 3' exon compared to variant 1. The resulting isoform (13) lacks two internal segments and has a much shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC068506, AK291156
      Consensus CDS
      CCDS59310.1
      UniProtKB/TrEMBL
      A0A7P0T8J4
      Related
      ENSP00000473119.1, ENST00000597599.5
      Conserved Domains (3) summary
      COG0419
      Location:365 → 500
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    6. NM_001198942.1 → NP_001185871.1  dystrobrevin alpha isoform 14

      See identical proteins and their annotated locations for NP_001185871.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) lacks multiple exons from the 5' end, contains an alternate 5' exon, and differs in the CDS compared to variant 1. The resulting isoform (14) has a much shorter N-terminus, lacks an internal segment in one region and contains an extra segment in a different region, compared to isoform 1.
      Source sequence(s)
      AC068506, AK295732, DN991561
      Consensus CDS
      CCDS56062.1
      UniProtKB/TrEMBL
      A0A804HHU2
      Related
      ENSP00000269192.7, ENST00000269192.11
      Conserved Domains (1) summary
      pfam13874
      Location:179 → 262
      Nup54; Nucleoporin complex subunit 54

    7. NM_001198943.1 → NP_001185872.1  dystrobrevin alpha isoform 15

      See identical proteins and their annotated locations for NP_001185872.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (15) lacks multiple exons from the 5' end, contains an alternate 5' UTR, and differs in the CDS compared to variant 1. The resulting isoform (15) has a much shorter N-terminus and lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AC068506, AK296450
      UniProtKB/TrEMBL
      A0A7P0TBG1, B7Z3X3
      Related
      ENSP00000470247.1, ENST00000601125.5
      Conserved Domains (2) summary
      cd02334
      Location:1 → 39
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam13874
      Location:160 → 243
      Nup54; Nucleoporin complex subunit 54

    8. NM_001198944.1 → NP_001185873.1  dystrobrevin alpha isoform 16

      See identical proteins and their annotated locations for NP_001185873.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (16) lacks multiple exons from the 5' end, contains an alternate 5' exon, and differs in the CDS compared to variant 1. The resulting isoform (16) has a much shorter N-terminus and lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AC068506, AK295789, DN991561
      Consensus CDS
      CCDS56063.1
      UniProtKB/TrEMBL
      M0QZ28
      Related
      ENSP00000452255.2, ENST00000556414.7
      Conserved Domains (1) summary
      pfam13874
      Location:122 → 205
      Nup54; Nucleoporin complex subunit 54

    9. NM_001198945.2 → NP_001185874.1  dystrobrevin alpha isoform 17

      See identical proteins and their annotated locations for NP_001185874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (17) lacks multiple exons in the middle region and from the 3' end, and contains an alternate 3' exon compared to variant 1. The resulting isoform (17) lacks a large internal segment and has a shorter and distinct C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC068506, AK294746, R45531
      Consensus CDS
      CCDS59313.1
      UniProtKB/Swiss-Prot
      Q9Y4J8
      Related
      ENSP00000469121.1, ENST00000596745.5
      Conserved Domains (2) summary
      cd16249
      Location:54 → 202
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl28419
      Location:226 → 296
      SerS; Seryl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

    10. NM_001386753.1 → NP_001373682.1  dystrobrevin alpha isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS59312.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    11. NM_001386754.1 → NP_001373683.1  dystrobrevin alpha isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS92449.1
      UniProtKB/TrEMBL
      A0A7P0Z4D7, A0A804HHT6
      Conserved Domains (3) summary
      PRK00286
      Location:369 → 541
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    12. NM_001386755.1 → NP_001373684.1  dystrobrevin alpha isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS92449.1
      UniProtKB/TrEMBL
      A0A7P0Z4D7, A0A804HHT6
      Related
      ENSP00000507106.1, ENST00000684266.1
      Conserved Domains (3) summary
      PRK00286
      Location:369 → 541
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    13. NM_001386756.1 → NP_001373685.1  dystrobrevin alpha isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC013290, AC022601, AC068506
      Consensus CDS
      CCDS92449.1
      UniProtKB/TrEMBL
      A0A7P0Z4D7, A0A804HHT6
      Conserved Domains (3) summary
      PRK00286
      Location:369 → 541
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    14. NM_001386757.1 → NP_001373686.1  dystrobrevin alpha isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC013290, AC022601, AC068506
      Consensus CDS
      CCDS92449.1
      UniProtKB/TrEMBL
      A0A7P0Z4D7, A0A804HHT6
      Related
      ENSP00000506757.1, ENST00000684377.1
      Conserved Domains (3) summary
      PRK00286
      Location:369 → 541
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    15. NM_001386758.1 → NP_001373687.1  dystrobrevin alpha isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS92449.1
      UniProtKB/TrEMBL
      A0A7P0Z4D7, A0A804HHT6
      Conserved Domains (3) summary
      PRK00286
      Location:369 → 541
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    16. NM_001386759.1 → NP_001373688.1  dystrobrevin alpha isoform 18

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS92449.1
      UniProtKB/TrEMBL
      A0A7P0Z4D7, A0A804HHT6
      Related
      ENSP00000505718.1, ENST00000680822.1
      Conserved Domains (3) summary
      PRK00286
      Location:369 → 541
      xseA; exodeoxyribonuclease VII large subunit; Reviewed
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    17. NM_001386760.1 → NP_001373689.1  dystrobrevin alpha isoform 19

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      UniProtKB/TrEMBL
      A0A7P0T8Y5
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:437 → 627
      MS_channel; Mechanosensitive ion channel

    18. NM_001386761.1 → NP_001373690.1  dystrobrevin alpha isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS45848.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000507300.1, ENST00000684359.1
      Conserved Domains (4) summary
      COG0419
      Location:368 → 497
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:411 → 601
      MS_channel; Mechanosensitive ion channel

    19. NM_001386762.1 → NP_001373691.1  dystrobrevin alpha isoform 20

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      UniProtKB/TrEMBL
      A0A7P0T8Y5
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:410 → 600
      MS_channel; Mechanosensitive ion channel

    20. NM_001386763.1 → NP_001373692.1  dystrobrevin alpha isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS59311.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000283365.10, ENST00000283365.14
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    21. NM_001386764.1 → NP_001373693.1  dystrobrevin alpha isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS59311.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    22. NM_001386765.1 → NP_001373694.1  dystrobrevin alpha isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC013290, AC022601, AC068506
      Consensus CDS
      CCDS59311.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000507911.1, ENST00000683705.1
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    23. NM_001386766.1 → NP_001373695.1  dystrobrevin alpha isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS59311.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    24. NM_001386767.1 → NP_001373696.1  dystrobrevin alpha isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS59311.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000506495.1, ENST00000681241.1
      Conserved Domains (4) summary
      COG0419
      Location:365 → 494
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:408 → 598
      MS_channel; Mechanosensitive ion channel

    25. NM_001386768.1 → NP_001373697.1  dystrobrevin alpha isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS92450.1
      UniProtKB/TrEMBL
      A0A7P0T8Y5, A0A7P0T9L1
      Related
      ENSP00000505722.1, ENST00000681470.1
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:407 → 597
      MS_channel; Mechanosensitive ion channel

    26. NM_001386769.1 → NP_001373698.1  dystrobrevin alpha isoform 21

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS92450.1
      UniProtKB/TrEMBL
      A0A7P0T8Y5, A0A7P0T9L1
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:407 → 597
      MS_channel; Mechanosensitive ion channel

    27. NM_001386770.1 → NP_001373699.1  dystrobrevin alpha isoform 22

      Status: REVIEWED

      Source sequence(s)
      AC013290, AC022601, AC068506
      Conserved Domains (3) summary
      COG0419
      Location:395 → 530
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    28. NM_001386771.1 → NP_001373700.1  dystrobrevin alpha isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS59310.1
      UniProtKB/TrEMBL
      A0A7P0T8J4
      Related
      ENSP00000508159.1, ENST00000682483.1
      Conserved Domains (3) summary
      COG0419
      Location:365 → 500
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    29. NM_001386772.1 → NP_001373701.1  dystrobrevin alpha isoform 13

      Status: REVIEWED

      Source sequence(s)
      AC013290, AC022601, AC068506
      Consensus CDS
      CCDS59310.1
      UniProtKB/TrEMBL
      A0A7P0T8J4
      Conserved Domains (3) summary
      COG0419
      Location:365 → 500
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    30. NM_001386773.1 → NP_001373702.1  dystrobrevin alpha isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      UniProtKB/TrEMBL
      A0A7P0T8J4
      Conserved Domains (3) summary
      PRK12704
      Location:406 → 499
      PRK12704; phosphodiesterase; Provisional
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    31. NM_001386774.1 → NP_001373703.1  dystrobrevin alpha isoform 23

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      UniProtKB/TrEMBL
      A0A7P0T8J4
      Conserved Domains (3) summary
      PRK12704
      Location:406 → 499
      PRK12704; phosphodiesterase; Provisional
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    32. NM_001386775.1 → NP_001373704.1  dystrobrevin alpha isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS42426.1
      UniProtKB/TrEMBL
      A0A7P0TAN3
      Conserved Domains (2) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    33. NM_001386776.1 → NP_001373705.1  dystrobrevin alpha isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506, AC103768
      Consensus CDS
      CCDS56060.1
      UniProtKB/TrEMBL
      A0A7P0TAN3
      Related
      ENSP00000506928.1, ENST00000684734.1
      Conserved Domains (2) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    34. NM_001386777.1 → NP_001373706.1  dystrobrevin alpha isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS56060.1
      UniProtKB/TrEMBL
      A0A7P0TAN3
      Conserved Domains (2) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    35. NM_001386788.1 → NP_001373717.1  dystrobrevin alpha isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS92448.1
      UniProtKB/TrEMBL
      A0A7P0TBH9, A0A804HHT6
      Related
      ENSP00000506659.1, ENST00000679796.1
      Conserved Domains (4) summary
      COG0419
      Location:452 → 581
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:495 → 685
      MS_channel; Mechanosensitive ion channel

    36. NM_001386795.1 → NP_001373724.1  dystrobrevin alpha isoform 24

      Status: REVIEWED

      Source sequence(s)
      AC022601, AC068506
      Consensus CDS
      CCDS92448.1
      UniProtKB/TrEMBL
      A0A7P0TBH9, A0A804HHT6
      Related
      ENSP00000405819.2, ENST00000444659.6
      Conserved Domains (4) summary
      COG0419
      Location:452 → 581
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:495 → 685
      MS_channel; Mechanosensitive ion channel

    37. NM_001390.5 → NP_001381.2  dystrobrevin alpha isoform 1

      See identical proteins and their annotated locations for NP_001381.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as DTN1, encodes the longest isoform (1). Its 5' UTR has not been determined.
      Source sequence(s)
      AB209102, AL833285, BC005300, BC033969, BX103860, U26742, U46745
      UniProtKB/Swiss-Prot
      A8K541, A8MSZ0, A8MUY4, B4DGS6, B4DIR0, B4DIU8, M0QYX6, M0R397, O15332, O15333, O75697, Q13197, Q13198, Q13199, Q13498, Q13499, Q13500, Q59GK7, Q9BS59, Q9Y4J8
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000382064.3, ENST00000399113.7
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam13874
      Location:470 → 553
      Nup54; Nucleoporin complex subunit 54

    38. NM_001391.5 → NP_001382.2  dystrobrevin alpha isoform 3

      See identical proteins and their annotated locations for NP_001382.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as DTN2, lacks multiple exons from the 3' end and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (3) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC068506, AI670964, BC005300, R45531, U26742, U26743, U46745
      UniProtKB/Swiss-Prot
      Q9Y4J8
      Conserved Domains (4) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      pfam09068
      Location:16 → 140
      EF-hand_2; EF hand
      pfam09069
      Location:144 → 232
      EF-hand_3; EF-hand
      pfam11068
      Location:474 → 561
      YlqD; YlqD protein

    39. NM_001392.5 → NP_001383.2  dystrobrevin alpha isoform 7

      See identical proteins and their annotated locations for NP_001383.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), also known as DTN3 or delta transcript, lacks multiple exons from the 3' end and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (7) with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC005300, DA073612, U26742
      Consensus CDS
      CCDS42426.1
      UniProtKB/TrEMBL
      A0A7P0TAN3
      Related
      ENSP00000322519.5, ENST00000315456.10
      Conserved Domains (2) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin

    40. NM_032975.4 → NP_116757.2  dystrobrevin alpha isoform 2

      See identical proteins and their annotated locations for NP_116757.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2), also known as alpha transcript, lacks two consecutive in-frame coding exons, compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AB209102, AL833285, BC033969, BX103860, DA073612, U26742
      Consensus CDS
      CCDS45848.1
      UniProtKB/TrEMBL
      A0A804HHT6
      Related
      ENSP00000507995.1, ENST00000683379.1
      Conserved Domains (4) summary
      COG0419
      Location:368 → 497
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl39057
      Location:411 → 601
      MS_channel; Mechanosensitive ion channel

    41. NM_032978.7 → NP_116760.2  dystrobrevin alpha isoform 4

      See identical proteins and their annotated locations for NP_116760.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), also known as beta transcript, lacks an internal coding exon and multiple exons from the 3' end, and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (4) with a distinct C-terminus and missing an internal segment, compared to isoform 1.
      Source sequence(s)
      AC068506, AI670964, AK291156, R45531, U26744, U46745
      Consensus CDS
      CCDS11908.1
      Related
      ENSP00000336682.4, ENST00000348997.9
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl25732
      Location:422 → 557
      SMC_N; RecF/RecN/SMC N terminal domain

    42. NM_032979.5 → NP_116761.2  dystrobrevin alpha isoform 5

      See identical proteins and their annotated locations for NP_116761.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), also known as gamma transcript, lacks two consecutive in-frame coding exons and multiple exons from the 3' end, and contains an alternate 3' exon, compared to transcript variant 1. This results in a shorter isoform (5) with a distinct C-terminus and missing an internal segment, compared to isoform 1.
      Source sequence(s)
      AC068506, AI670964, DA073612, R45531, U26742, U26743
      Consensus CDS
      CCDS59309.1
      UniProtKB/TrEMBL
      A0A804HKZ4
      Related
      ENSP00000472031.1, ENST00000598774.6
      Conserved Domains (3) summary
      cd02334
      Location:241 → 289
      ZZ_dystrophin; Zinc finger, ZZ type. Zinc finger present in dystrophin and dystrobrevin. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Dystrophin attaches actin filaments to an integral membrane ...
      cd16249
      Location:54 → 214
      EFh_DTNA; EF-hand-like motif found in alpha-dystrobrevin
      cl25732
      Location:368 → 503
      SMC_N; RecF/RecN/SMC N terminal domain

    43. NM_032980.4 → NP_116762.2  dystrobrevin alpha isoform 6

      See identical proteins and their annotated locations for NP_116762.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), also known as epsilon transcript, lacks two in-frame coding exons and multiple exons from the 5' end, and contains an alternate 5' exon, compared to transcript variant 1. This results in an isoform (6) with a much shorter N-terminus and missing two internal segments, compared to isoform 1.
      Source sequence(s)
      AB209102, AL833285, BC033969, BX103860, DC327958, U46746
      Consensus CDS
      CCDS11909.1
      UniProtKB/TrEMBL
      M0QZ28
      Related
      ENSP00000467720.1, ENST00000591182.5
      Conserved Domains (1) summary
      pfam13874
      Location:118 → 201
      Nup54; Nucleoporin complex subunit 54

    44. NM_032981.5 → NP_116763.1  dystrobrevin alpha isoform 8

      See identical proteins and their annotated locations for NP_116763.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), also known as zeta transcript, lacks multiple exons from the 5' and 3' ends as well as few internal exons, and contains alternate 5' and 3' exons, compared to transcript variant 1. This results in a shorter isoform (8) with distinct N- and C-termini and lacking two internal segments, compared to isoform 1.
      Source sequence(s)
      AC068506, AI670964, DC327958, R45531, U26743
      Consensus CDS
      CCDS59314.1
      UniProtKB/TrEMBL
      A0A804HII3
      Related
      ENSP00000471783.1, ENST00000597674.5
      Conserved Domains (1) summary
      cl28419
      Location:98 → 168
      SerS; Seryl-tRNA synthetase [Translation, ribosomal structure and biogenesis]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      34493312..34891844
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437323.1 → XP_047293279.1  dystrobrevin alpha isoform X8

    2. XM_047437332.1 → XP_047293288.1  dystrobrevin alpha isoform X15

    3. XM_047437326.1 → XP_047293282.1  dystrobrevin alpha isoform X11

    4. XM_047437322.1 → XP_047293278.1  dystrobrevin alpha isoform X7

      UniProtKB/Swiss-Prot
      A8K541, A8MSZ0, A8MUY4, B4DGS6, B4DIR0, B4DIU8, M0QYX6, M0R397, O15332, O15333, O75697, Q13197, Q13198, Q13199, Q13498, Q13499, Q13500, Q59GK7, Q9BS59, Q9Y4J8

    5. XM_047437318.1 → XP_047293274.1  dystrobrevin alpha isoform X3

    6. XM_047437319.1 → XP_047293275.1  dystrobrevin alpha isoform X4

    7. XM_047437328.1 → XP_047293284.1  dystrobrevin alpha isoform X13

    8. XM_047437321.1 → XP_047293277.1  dystrobrevin alpha isoform X6

    9. XM_047437316.1 → XP_047293272.1  dystrobrevin alpha isoform X1

    10. XM_047437340.1 → XP_047293296.1  dystrobrevin alpha isoform X21

    11. XM_047437317.1 → XP_047293273.1  dystrobrevin alpha isoform X2

    12. XM_047437324.1 → XP_047293280.1  dystrobrevin alpha isoform X9

    13. XM_047437336.1 → XP_047293292.1  dystrobrevin alpha isoform X18

    14. XM_047437339.1 → XP_047293295.1  dystrobrevin alpha isoform X20

      Related
      ENSP00000507082.1, ENST00000684560.1

    15. XM_047437327.1 → XP_047293283.1  dystrobrevin alpha isoform X12

      UniProtKB/TrEMBL
      A0A7P0Z4D7

    16. XM_047437330.1 → XP_047293286.1  dystrobrevin alpha isoform X15

    17. XM_047437331.1 → XP_047293287.1  dystrobrevin alpha isoform X15

    18. XM_047437320.1 → XP_047293276.1  dystrobrevin alpha isoform X5

    19. XM_047437333.1 → XP_047293289.1  dystrobrevin alpha isoform X16

      UniProtKB/TrEMBL
      A0A7P0T9L1

    20. XM_047437337.1 → XP_047293293.1  dystrobrevin alpha isoform X19

    21. XM_047437338.1 → XP_047293294.1  dystrobrevin alpha isoform X20

      Related
      ENSP00000508348.1, ENST00000684610.1

    22. XM_017025575.3 → XP_016881064.1  dystrobrevin alpha isoform X5

      UniProtKB/TrEMBL
      A0A804HHT6

    23. XM_047437329.1 → XP_047293285.1  dystrobrevin alpha isoform X14

    24. XM_047437334.1 → XP_047293290.1  dystrobrevin alpha isoform X16

      UniProtKB/TrEMBL
      A0A7P0T9L1

    25. XM_047437325.1 → XP_047293281.1  dystrobrevin alpha isoform X10

    26. XM_047437335.1 → XP_047293291.1  dystrobrevin alpha isoform X17

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      34685119..35083714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318247.1 → XP_054174222.1  dystrobrevin alpha isoform X8

    2. XM_054318256.1 → XP_054174231.1  dystrobrevin alpha isoform X15

    3. XM_054318250.1 → XP_054174225.1  dystrobrevin alpha isoform X11

    4. XM_054318246.1 → XP_054174221.1  dystrobrevin alpha isoform X7

      UniProtKB/Swiss-Prot
      A8K541, A8MSZ0, A8MUY4, B4DGS6, B4DIR0, B4DIU8, M0QYX6, M0R397, O15332, O15333, O75697, Q13197, Q13198, Q13199, Q13498, Q13499, Q13500, Q59GK7, Q9BS59, Q9Y4J8

    5. XM_054318241.1 → XP_054174216.1  dystrobrevin alpha isoform X3

    6. XM_054318242.1 → XP_054174217.1  dystrobrevin alpha isoform X4

    7. XM_054318252.1 → XP_054174227.1  dystrobrevin alpha isoform X13

    8. XM_054318245.1 → XP_054174220.1  dystrobrevin alpha isoform X6

    9. XM_054318239.1 → XP_054174214.1  dystrobrevin alpha isoform X1

    10. XM_054318264.1 → XP_054174239.1  dystrobrevin alpha isoform X21

    11. XM_054318240.1 → XP_054174215.1  dystrobrevin alpha isoform X2

    12. XM_054318248.1 → XP_054174223.1  dystrobrevin alpha isoform X9

    13. XM_054318260.1 → XP_054174235.1  dystrobrevin alpha isoform X18

    14. XM_054318263.1 → XP_054174238.1  dystrobrevin alpha isoform X20

    15. XM_054318254.1 → XP_054174229.1  dystrobrevin alpha isoform X15

    16. XM_054318251.1 → XP_054174226.1  dystrobrevin alpha isoform X12

      UniProtKB/TrEMBL
      A0A7P0Z4D7

    17. XM_054318255.1 → XP_054174230.1  dystrobrevin alpha isoform X15

    18. XM_054318243.1 → XP_054174218.1  dystrobrevin alpha isoform X5

    19. XM_054318257.1 → XP_054174232.1  dystrobrevin alpha isoform X16

      UniProtKB/TrEMBL
      A0A7P0T9L1

    20. XM_054318261.1 → XP_054174236.1  dystrobrevin alpha isoform X19

    21. XM_054318262.1 → XP_054174237.1  dystrobrevin alpha isoform X20

    22. XM_054318244.1 → XP_054174219.1  dystrobrevin alpha isoform X5

    23. XM_054318253.1 → XP_054174228.1  dystrobrevin alpha isoform X14

    24. XM_054318258.1 → XP_054174233.1  dystrobrevin alpha isoform X16

      UniProtKB/TrEMBL
      A0A7P0T9L1

    25. XM_054318249.1 → XP_054174224.1  dystrobrevin alpha isoform X10

    26. XM_054318259.1 → XP_054174234.1  dystrobrevin alpha isoform X17

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4J8.2 GenPept UniProtKB/Swiss-Prot:Q9Y4J8

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