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    DMD dystrophin [ Bos taurus (domestic cattle) ]

    Gene ID: 537655, updated on 10-Oct-2024

    Summary

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    Gene symbol
    DMD
    Gene description
    dystrophin
    See related
    BGD:BT15194; Ensembl:ENSBTAG00000046838
    Gene type
    protein coding
    RefSeq status
    MODEL
    Organism
    Bos taurus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
    Orthologs
    human mouse all
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    Genomic context

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    See DMD in Genome Data Viewer
    Location:
    chromosome: X
    Exon count:
    83
    Annotation release Status Assembly Chr Location
    RS_2023_09 current ARS-UCD2.0 (GCF_002263795.3) X NC_037357.1 (110067847..112304761)

    Chromosome X - NC_037357.1Genomic Context describing neighboring genes Neighboring gene serine/arginine-rich splicing factor 2-like Neighboring gene E3 ubiquitin-protein ligase RLIM-like Neighboring gene small nucleolar RNA U3 Neighboring gene E3 ubiquitin-protein ligase RLIM Neighboring gene ferritin heavy chain-like Neighboring gene ferritin light chain-like

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_037357.1 Chromosome X Reference ARS-UCD2.0 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A whole-genome assembly of the domestic cow, Bos taurus. Zimin AV, et al. Genome Biol, 2009. PMID 19393038, Free PMC Article
    2. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    3. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables protein binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in synaptic signaling IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dystrophin

    NCBI Reference Sequences (RefSeq)

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    RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2023_09

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

    Reference ARS-UCD2.0 Primary Assembly

    Genomic

    1. NC_037357.1 Reference ARS-UCD2.0 Primary Assembly

      Range
      110067847..112304761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024988361.2 → XP_024844129.1  dystrophin isoform X3

      UniProtKB/TrEMBL
      A0AAA9T1N8, G3N0F6
      Related
      ENSBTAP00000090319.1, ENSBTAT00000116041.1
      Conserved Domains (8) summary
      COG5069
      Location:12 → 232
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:345 → 559
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3053 → 3082
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3305 → 3353
      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 ...
      pfam00435
      Location:2928 → 3034
      Spectrin; Spectrin repeat
      cd16246
      Location:3119 → 3280
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1879 → 2103
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:1127 → 1937
      SMC_N; RecF/RecN/SMC N terminal domain

    2. XM_024988358.2 → XP_024844126.1  dystrophin isoform X1

      UniProtKB/TrEMBL
      G3N0F6
      Conserved Domains (9) summary
      COG5069
      Location:12 → 232
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:345 → 559
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3053 → 3082
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3305 → 3353
      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 ...
      pfam00435
      Location:2928 → 3034
      Spectrin; Spectrin repeat
      pfam16769
      Location:3530 → 3675
      MCM3AP_GANP; MCM3AP domain of GANP
      cd16246
      Location:3119 → 3280
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1879 → 2103
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:1127 → 1937
      SMC_N; RecF/RecN/SMC N terminal domain

    3. XM_024988360.2 → XP_024844128.1  dystrophin isoform X2

      UniProtKB/TrEMBL
      G3N0F6
      Conserved Domains (9) summary
      COG5069
      Location:12 → 232
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:345 → 559
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3053 → 3082
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3305 → 3353
      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 ...
      pfam00435
      Location:2928 → 3034
      Spectrin; Spectrin repeat
      pfam16769
      Location:3517 → 3662
      MCM3AP_GANP; MCM3AP domain of GANP
      cd16246
      Location:3119 → 3280
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1879 → 2103
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:1127 → 1937
      SMC_N; RecF/RecN/SMC N terminal domain

    4. XM_024988366.2 → XP_024844134.1  dystrophin isoform X8

      UniProtKB/TrEMBL
      G3N0F6
      Conserved Domains (8) summary
      COG5069
      Location:12 → 232
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:345 → 559
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3053 → 3082
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3305 → 3353
      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 ...
      pfam00435
      Location:2928 → 3034
      Spectrin; Spectrin repeat
      cd16246
      Location:3119 → 3280
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1879 → 2103
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:1127 → 1937
      SMC_N; RecF/RecN/SMC N terminal domain

    5. XM_024988362.2 → XP_024844130.1  dystrophin isoform X5

      UniProtKB/TrEMBL
      G3N0F6
      Conserved Domains (9) summary
      COG5069
      Location:12 → 232
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:345 → 559
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3053 → 3082
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3305 → 3353
      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 ...
      pfam00435
      Location:2928 → 3034
      Spectrin; Spectrin repeat
      pfam16769
      Location:3495 → 3640
      MCM3AP_GANP; MCM3AP domain of GANP
      cd16246
      Location:3119 → 3280
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1879 → 2103
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:1127 → 1937
      SMC_N; RecF/RecN/SMC N terminal domain

    6. XM_059883860.1 → XP_059739843.1  dystrophin isoform X9

      Related
      ENSBTAP00000065147.2, ENSBTAT00000083316.2

    7. XM_024988364.2 → XP_024844132.1  dystrophin isoform X7

      UniProtKB/TrEMBL
      G3N0F6
      Conserved Domains (9) summary
      COG5069
      Location:12 → 232
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:345 → 559
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3007 → 3036
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3259 → 3307
      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 ...
      pfam00435
      Location:2882 → 2988
      Spectrin; Spectrin repeat
      pfam16769
      Location:3484 → 3629
      MCM3AP_GANP; MCM3AP domain of GANP
      cd16246
      Location:3073 → 3234
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1833 → 2057
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:1126 → 1883
      SMC_N; RecF/RecN/SMC N terminal domain

    8. XM_024988363.2 → XP_024844131.1  dystrophin isoform X6

      UniProtKB/TrEMBL
      A0A3Q1MS46
      Related
      ENSBTAP00000072754.2, ENSBTAT00000078626.2
      Conserved Domains (9) summary
      COG5069
      Location:12 → 232
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00176
      Location:301 → 515
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:3009 → 3038
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:3261 → 3309
      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 ...
      pfam00435
      Location:2884 → 2990
      Spectrin; Spectrin repeat
      pfam16769
      Location:3486 → 3631
      MCM3AP_GANP; MCM3AP domain of GANP
      cd16246
      Location:3075 → 3236
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1835 → 2059
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:1083 → 1893
      SMC_N; RecF/RecN/SMC N terminal domain

    9. XM_059883858.1 → XP_059739841.1  dystrophin isoform X4

    10. XM_024988367.2 → XP_024844135.1  dystrophin isoform X10

      UniProtKB/TrEMBL
      A0A3Q1MS46
      Conserved Domains (8) summary
      cd00176
      Location:1620 → 1833
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cd00201
      Location:2567 → 2596
      WW; Two conserved tryptophans domain; also known as the WWP or rsp5 domain; around 40 amino acids; functions as an interaction module in a diverse set of signalling proteins; binds specific proline-rich sequences but at low affinities compared to other ...
      cd02334
      Location:2819 → 2867
      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 ...
      pfam00435
      Location:2442 → 2548
      Spectrin; Spectrin repeat
      pfam16769
      Location:3044 → 3189
      MCM3AP_GANP; MCM3AP domain of GANP
      cd16246
      Location:2633 → 2794
      EFh_DMD; EF-hand-like motif found in dystrophin
      cl02488
      Location:1393 → 1617
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl25732
      Location:641 → 1451
      SMC_N; RecF/RecN/SMC N terminal domain

    11. XM_005228315.5 → XP_005228372.4  dystrophin isoform X11

      Related
      ENSBTAP00000067594.2, ENSBTAT00000083948.2

    12. XM_024988368.2 → XP_024844136.1  dystrophin isoform X14

      Conserved Domains (3) summary
      COG1196
      Location:367 → 537
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd02334
      Location:243 → 291
      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 ...
      cd16246
      Location:57 → 218
      EFh_DMD; EF-hand-like motif found in dystrophin

    13. XM_005228316.5 → XP_005228373.1  dystrophin isoform X12

      See identical proteins and their annotated locations for XP_005228373.1

      UniProtKB/TrEMBL
      G5E5A5
      Related
      ENSBTAP00000010858.6, ENSBTAT00000010858.7
      Conserved Domains (4) summary
      COG1196
      Location:367 → 537
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd02334
      Location:243 → 291
      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 ...
      cd16246
      Location:57 → 218
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam16769
      Location:469 → 613
      MCM3AP_GANP; MCM3AP domain of GANP

    14. XM_024988369.2 → XP_024844137.1  dystrophin isoform X15

      UniProtKB/TrEMBL
      A8WFL6
      Conserved Domains (3) summary
      COG1196
      Location:354 → 524
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd02334
      Location:243 → 291
      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 ...
      cd16246
      Location:57 → 218
      EFh_DMD; EF-hand-like motif found in dystrophin

    15. XM_005228317.5 → XP_005228374.1  dystrophin isoform X13

      See identical proteins and their annotated locations for XP_005228374.1

      Conserved Domains (4) summary
      COG1196
      Location:354 → 524
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd02334
      Location:243 → 291
      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 ...
      cd16246
      Location:57 → 218
      EFh_DMD; EF-hand-like motif found in dystrophin
      pfam16769
      Location:456 → 600
      MCM3AP_GANP; MCM3AP domain of GANP
    Nucleotide Protein Strain
    Heading Accession and Version

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