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DMTN dematin actin binding protein [ Homo sapiens (human) ]

Gene ID: 2039, updated on 11-Apr-2024

Summary

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Official Symbol
DMTNprovided by HGNC
Official Full Name
dematin actin binding proteinprovided by HGNC
Primary source
HGNC:HGNC:3382
See related
Ensembl:ENSG00000158856 MIM:125305; AllianceGenome:HGNC:3382
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
DMT; EPB49
Summary
The protein encoded by this gene is an actin binding and bundling protein that plays a structural role in erythrocytes, by stabilizing and attaching the spectrin/actin cytoskeleton to the erythrocyte membrane in a phosphorylation-dependent manner. This protein contains a core domain in the N-terminus, and a headpiece domain in the C-terminus that binds F-actin. When purified from erythrocytes, this protein exists as a trimer composed of two 48 kDa polypeptides and a 52 kDa polypeptide. The different subunits arise from alternative splicing in the 3' coding region, where the headpiece domain is located. Disruption of this gene has been correlated with the autosomal dominant Marie Unna hereditary hypotrichosis disease, while loss of heterozygosity of this gene is thought to play a role in prostate cancer progression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]
Expression
Broad expression in brain (RPKM 41.4), bone marrow (RPKM 23.9) and 18 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
8p21.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22048931..22082525)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22322887..22356487)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (21906442..21940036)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene nucleophosmin/nucleoplasmin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21893938-21894622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21894623-21895307 Neighboring gene VISTA enhancer hs782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903342-21903848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21903849-21904354 Neighboring gene fibroblast growth factor 17 Neighboring gene VISTA enhancer hs781 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21908959-21909751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21915443-21916404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21917368-21918329 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:21943692-21944301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21951526-21952026 Neighboring gene FHF complex subunit HOOK interacting protein 2B Neighboring gene ReSE screen-validated silencer GRCh37_chr8:21961808-21961955 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:21964802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:21965271-21966044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18979 Neighboring gene nudix hydrolase 18

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
  • 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. Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling. Wang M, et al. Exp Cell Res, 2022 Aug 1. PMID 35561787
  2. Proteomic analysis shows the upregulation of erythrocyte dematin in zinc-restricted human subjects. Ryu MS, et al. Am J Clin Nutr, 2012 May. PMID 22456662, Free PMC Article
  3. Comparison of fast backbone dynamics at amide nitrogen and carbonyl sites in dematin headpiece C-terminal domain and its S74E mutant. Vugmeyster L, et al. J Biomol NMR, 2010 Jun. PMID 20396930
  4. Phosphorylation-induced changes in backbone dynamics of the dematin headpiece C-terminal domain. Vugmeyster L, et al. J Biomol NMR, 2009 Jan. PMID 19030997, Free PMC Article
  5. A phosphorylation-induced conformation change in dematin headpiece. Jiang ZG, et al. Structure, 2006 Feb. PMID 16472756

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
    Title: Dematin inhibits glioblastoma malignancy through RhoA-mediated CDKs downregulation and cytoskeleton remodeling.
  2. When unphosphorylated, dematin's two F-actin binding domains move independent of one another permitting them to bind different F-actin filaments.
    Title: The allosteric mechanism induced by protein kinase A (PKA) phosphorylation of dematin (band 4.9).
  3. the headpiece domain of dematin regulates calcium mobilization and signaling in platelets
    Title: Headpiece domain of dematin regulates calcium mobilization and signaling in platelets.
  4. a novel functional role for dematin in regulating erythrocyte membrane function.
    Title: Identification of a novel role for dematin in regulating red cell membrane function by modulating spectrin-actin interaction.
  5. Fast backbone dynamics probed at amide nitrogen versus carbonyl carbon sites for dematin headpiece C-terminal. The reduction of mobility in the loop region upon the S74E mutation can be seen from the (15)N order parameters.
    Title: Comparison of fast backbone dynamics at amide nitrogen and carbonyl sites in dematin headpiece C-terminal domain and its S74E mutant.
  6. results suggest that the core domain of dematin exhibits properties typical of a natively unfolded protein, while the headpiece domain is folded in a conformation essentially identical to its native structure
    Title: Dematin exhibits a natively unfolded core domain and an independently folded headpiece domain.
  7. study investigated motions in the backbone of dematin headpiece domain and its mutant DHPS74E using several complementary NMR relaxation techniques
    Title: Phosphorylation-induced changes in backbone dynamics of the dematin headpiece C-terminal domain.
  8. results suggest that phosphorylation of the dematin headpiece acts as a conformational switch within this headpiece domain
    Title: The NMR structure of dematin headpiece reveals a dynamic loop that is conformationally altered upon phosphorylation at a distal site.
  9. a crucial role for this proline residue in structural stability and folding potential of HP (sub)domains consistent with Pro-Trp stacking as a more general determinant of protein stability
    Title: Identification of the PXW sequence as a structural gatekeeper of the headpiece C-terminal subdomain fold.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ78462, FLJ98848

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables spectrin binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in actin filament bundle assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin filament bundle assembly TAS
Traceable Author Statement
more info
 PubMed 
involved_in actin filament capping IEA
Inferred from Electronic Annotation
more info
  
involved_in calcium-mediated signaling using intracellular calcium source ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to cAMP IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cytoskeleton organization TAS
Traceable Author Statement
more info
 PubMed 
involved_in erythrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lamellipodium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cell-substrate adhesion ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of peptidyl-serine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of peptidyl-threonine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of substrate adhesion-dependent cell spreading ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of blood coagulation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of fibroblast migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of wound healing ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein-containing complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein-containing complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of filopodium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of lamellipodium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in actin cytoskeleton TAS
Traceable Author Statement
more info
 PubMed 
located_in actin filament IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in platelet dense tubular network membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
located_in spectrin-associated cytoskeleton IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
dematin
Names
erythrocyte membrane protein band 4.9 (dematin)

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.

mRNA and Protein(s)

  1. NM_001114135.5 → NP_001107607.1  dematin isoform 1

    See identical proteins and their annotated locations for NP_001107607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, compared to variant 1. Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
    Source sequence(s)
    BC006318, BC052805, BI222385, DA131656, DA267327
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Related
    ENSP00000265800.5, ENST00000265800.9
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  2. NM_001114136.3 → NP_001107608.1  dematin isoform 1

    See identical proteins and their annotated locations for NP_001107608.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
    Source sequence(s)
    AK289650, BC052805, BI222385, DA521027
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Related
    ENSP00000416111.1, ENST00000432128.6
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  3. NM_001114137.4 → NP_001107609.1  dematin isoform 2

    See identical proteins and their annotated locations for NP_001107609.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5, 7, 14, 15 and 16 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
    Source sequence(s)
    AK055842, BC052805, BI222385, DA267327, DA634148
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000370879.3, ENST00000381470.7
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  4. NM_001114138.3 → NP_001107610.1  dematin isoform 2

    See identical proteins and their annotated locations for NP_001107610.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate splice site 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5, 7, 14, 15 and 16 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
    Source sequence(s)
    AC091171, AK055842, BC052805, BI222385, DA261872
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000401291.1, ENST00000415253.5
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  5. NM_001114139.4 → NP_001107611.1  dematin isoform 3

    See identical proteins and their annotated locations for NP_001107611.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate exon in the 5' UTR and lacks alternate in-frame exons in the 5' and 3' coding regions, compared to variant 1. Variants 6 and 17 encode the same isoform (3), which is shorter than isoform 1.
    Source sequence(s)
    AK091581, BC052805, BI222385, DA267327
    Consensus CDS
    CCDS47821.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000397904.2, ENST00000443491.6
    Conserved Domains (2) summary
    smart00153
    Location:323 → 358
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  6. NM_001302816.3 → NP_001289745.1  dematin isoform 2

    See identical proteins and their annotated locations for NP_001289745.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. Variants 4, 5 and 7 encode the same isoform (2, also known as the 48 kDa subunit, PMID:7615546), which is shorter than isoform 1.
    Source sequence(s)
    AC091171, BC006318, BC052805, BI222385, DA170493, DA261872, DA267327, L19713
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000429377.1, ENST00000519907.5
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  7. NM_001302817.3 → NP_001289746.1  dematin isoform 4

    See identical proteins and their annotated locations for NP_001289746.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. Variants 8 and 18 encode the same isoform (4), which is shorter than isoform 1.
    Source sequence(s)
    AK295452, BC052805, BI222385, DA267327, DA521027
    Consensus CDS
    CCDS78311.1
    UniProtKB/Swiss-Prot
    Q08495
    Related
    ENSP00000430618.1, ENST00000517600.5
    Conserved Domains (2) summary
    smart00153
    Location:330 → 365
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  8. NM_001323378.2 → NP_001310307.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BI222385, DA170493, DA267327, DA521027
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Related
    ENSP00000430609.2, ENST00000517305.5
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  9. NM_001323379.2 → NP_001310308.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK055842, AK289650, BC052805, BI222385, DA261872
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  10. NM_001323380.2 → NP_001310309.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK055842, AK289650, BC052805, BI222385, BM547218
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  11. NM_001323381.2 → NP_001310310.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BI222385, DA141491, DA170493, DA267327, DA383880
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  12. NM_001323382.2 → NP_001310311.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK289650, BC052805, BI222385, BI547589, HY024046
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  13. NM_001323383.2 → NP_001310312.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK055842, BC052805, BI222385, DA521027
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  14. NM_001323384.2 → NP_001310313.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK055842, BC052805, BI222385, DA267327, DA521027
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  15. NM_001323385.2 → NP_001310314.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK055842, AK295452, BC052805, BI222385, DA141491, DA267327, DA383880
    Consensus CDS
    CCDS47820.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  16. NM_001323387.2 → NP_001310316.1  dematin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK091581, BC052805, BI222385, BM547218, DA267327
    Consensus CDS
    CCDS47821.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:323 → 358
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  17. NM_001323388.2 → NP_001310317.1  dematin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AK289650, AK295452, BC052805, BI222385, DA521027
    Consensus CDS
    CCDS78311.1
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:330 → 365
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  18. NM_001323389.2 → NP_001310318.1  dematin isoform 5

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BI222385, DA170493, DA267327, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:355 → 390
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 354
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  19. NM_001323390.2 → NP_001310319.1  dematin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AK289650, BC006318, BC052805, BI222385, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:355 → 390
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 354
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  20. NM_001323391.2 → NP_001310320.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BI222385, DA131656, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  21. NM_001323392.2 → NP_001310321.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC091171, BC006318, BC052805, BI222385, DA131656, DA170493, DA261872
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  22. NM_001323393.2 → NP_001310322.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AK289650, BC006318, BC052805, BI222385, DA131656, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  23. NM_001323394.2 → NP_001310323.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK055842, AK289650, BC006318, BC052805, BI222385, DA131656, DA261872
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  24. NM_001323395.2 → NP_001310324.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK289650, BC006318, BC052805, BI222385, BM547218, DA131656
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  25. NM_001323396.2 → NP_001310325.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    BC006318, BC052805, BI222385, DA131656
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  26. NM_001323397.2 → NP_001310326.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC091171, BC006318, BC052805, BI222385, BI547589, DA131656, HY024046
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  27. NM_001323398.2 → NP_001310327.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK295452, BC052805, BI222385, DA267327, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308 → 343
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  28. NM_001323399.2 → NP_001310328.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK295452, BC052805, BI222385, DA521027
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308 → 343
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  29. NM_001323400.2 → NP_001310329.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AK295452, BC052805, BI222385, DA141491, DA267327, DA383880
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308 → 343
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  30. NM_001323401.2 → NP_001310330.1  dematin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC091171, AK295452, BC052805, BI222385, BM547218, DA267327
    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:308 → 343
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 307
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  31. NM_001387723.1 → NP_001374652.1  dematin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Conserved Domains (2) summary
    smart00153
    Location:345 → 380
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 344
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  32. NM_001387726.1 → NP_001374655.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47820.1
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  33. NM_001387727.1 → NP_001374656.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  34. NM_001387728.1 → NP_001374657.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47820.1
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  35. NM_001387730.1 → NP_001374659.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  36. NM_001387732.1 → NP_001374661.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  37. NM_001387734.1 → NP_001374663.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47820.1
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  38. NM_001387735.1 → NP_001374664.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  39. NM_001387736.1 → NP_001374665.1  dematin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47821.1
    Related
    ENSP00000429234.2, ENST00000523782.6
    Conserved Domains (2) summary
    smart00153
    Location:323 → 358
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  40. NM_001387737.1 → NP_001374666.1  dematin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Conserved Domains (2) summary
    smart00153
    Location:333 → 368
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 332
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  41. NM_001387742.1 → NP_001374671.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47820.1
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  42. NM_001387743.1 → NP_001374672.1  dematin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Conserved Domains (2) summary
    smart00153
    Location:355 → 390
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 354
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  43. NM_001387744.1 → NP_001374673.1  dematin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS78311.1
    Conserved Domains (2) summary
    smart00153
    Location:330 → 365
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  44. NM_001387745.1 → NP_001374674.1  dematin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Conserved Domains (2) summary
    smart00153
    Location:333 → 368
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 332
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  45. NM_001387750.1 → NP_001374679.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  46. NM_001387751.1 → NP_001374680.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Related
    ENSP00000350977.3, ENST00000358242.6
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  47. NM_001387752.1 → NP_001374681.1  dematin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47821.1
    Conserved Domains (2) summary
    smart00153
    Location:323 → 358
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  48. NM_001387753.1 → NP_001374682.1  dematin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  49. NM_001387754.1 → NP_001374683.1  dematin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS78311.1
    Conserved Domains (2) summary
    smart00153
    Location:330 → 365
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  50. NM_001387755.1 → NP_001374684.1  dematin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47820.1
    Conserved Domains (2) summary
    smart00153
    Location:348 → 383
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 347
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  51. NM_001387756.1 → NP_001374685.1  dematin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47821.1
    Conserved Domains (2) summary
    smart00153
    Location:323 → 358
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  52. NM_001387757.1 → NP_001374686.1  dematin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC091171
    Consensus CDS
    CCDS47821.1
    Conserved Domains (2) summary
    smart00153
    Location:323 → 358
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 322
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

  53. NM_001978.5 → NP_001969.2  dematin isoform 1

    See identical proteins and their annotated locations for NP_001969.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1-3 and 9-13 all encode the same isoform (1, also known as the 52 kDa subunit, PMID:7615546).
    Source sequence(s)
    AC091171, BC006318, BC052805, BI222385, DA170493, DA261872, DA267327
    Consensus CDS
    CCDS6020.1
    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3
    Related
    ENSP00000427866.1, ENST00000523266.5
    Conserved Domains (2) summary
    smart00153
    Location:370 → 405
    VHP; Villin headpiece domain
    pfam16182
    Location:8 → 369
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    22048931..22082525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421498.1 → XP_047277454.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  2. XM_047421497.1 → XP_047277453.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  3. XM_047421502.1 → XP_047277458.1  dematin isoform X3

  4. XM_047421500.1 → XP_047277456.1  dematin isoform X2

  5. XM_047421504.1 → XP_047277460.1  dematin isoform X4

  6. XM_047421510.1 → XP_047277466.1  dematin isoform X6

  7. XM_047421508.1 → XP_047277464.1  dematin isoform X5

  8. XM_047421496.1 → XP_047277452.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  9. XM_047421503.1 → XP_047277459.1  dematin isoform X3

  10. XM_047421501.1 → XP_047277457.1  dematin isoform X2

  11. XM_047421505.1 → XP_047277461.1  dematin isoform X4

  12. XM_047421511.1 → XP_047277467.1  dematin isoform X6

  13. XM_047421509.1 → XP_047277465.1  dematin isoform X5

  14. XM_047421507.1 → XP_047277463.1  dematin isoform X4

  15. XM_047421499.1 → XP_047277455.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  16. XM_047421506.1 → XP_047277462.1  dematin isoform X4

  17. XM_017013194.2 → XP_016868683.1  dematin isoform X5

    UniProtKB/Swiss-Prot
    Q08495
    Conserved Domains (2) summary
    smart00153
    Location:330 → 365
    VHP; Villin headpiece domain
    pfam16182
    Location:7 → 329
    AbLIM_anchor; Putative adherens-junction anchoring region of AbLIM

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    22322887..22356487
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360013.1 → XP_054215988.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  2. XM_054360012.1 → XP_054215987.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  3. XM_054360017.1 → XP_054215992.1  dematin isoform X3

  4. XM_054360015.1 → XP_054215990.1  dematin isoform X2

  5. XM_054360019.1 → XP_054215994.1  dematin isoform X4

  6. XM_054360026.1 → XP_054216001.1  dematin isoform X6

  7. XM_054360023.1 → XP_054215998.1  dematin isoform X5

  8. XM_054360011.1 → XP_054215986.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  9. XM_054360018.1 → XP_054215993.1  dematin isoform X3

  10. XM_054360016.1 → XP_054215991.1  dematin isoform X2

  11. XM_054360020.1 → XP_054215995.1  dematin isoform X4

  12. XM_054360027.1 → XP_054216002.1  dematin isoform X6

  13. XM_054360024.1 → XP_054215999.1  dematin isoform X5

  14. XM_054360022.1 → XP_054215997.1  dematin isoform X4

  15. XM_054360014.1 → XP_054215989.1  dematin isoform X1

    UniProtKB/Swiss-Prot
    A8K0T5, B3KP70, B3KRH3, B4DI75, E9PEJ0, Q08495, Q13215, Q9BRE3

  16. XM_054360021.1 → XP_054215996.1  dematin isoform X4

  17. XM_054360025.1 → XP_054216000.1  dematin isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q08495.3 GenPept UniProtKB/Swiss-Prot:Q08495

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