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    DST dystonin [ Homo sapiens (human) ]

    Gene ID: 667, updated on 17-Mar-2024

    Summary

    Official Symbol
    DSTprovided by HGNC
    Official Full Name
    dystoninprovided by HGNC
    Primary source
    HGNC:HGNC:1090
    See related
    Ensembl:ENSG00000151914 MIM:113810; AllianceGenome:HGNC:1090
    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
    DT; BPA; DMH; EBS3; BP240; BPAG1; EBSB2; HSAN6; MACF2; CATX15; CATX-15; D6S1101
    Summary
    This gene encodes a member of the plakin protein family of adhesion junction plaque proteins. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the full-length nature of some variants has not been defined. It has been reported that some isoforms are expressed in neural and muscle tissue, anchoring neural intermediate filaments to the actin cytoskeleton, and some isoforms are expressed in epithelial tissue, anchoring keratin-containing intermediate filaments to hemidesmosomes. Consistent with the expression, mice defective for this gene show skin blistering and neurodegeneration. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in skin (RPKM 22.2), brain (RPKM 12.5) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    6p12.1
    Exon count:
    109
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (56457996..56954830, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (56299279..56793877, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (56322794..56819628, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene collagen type XXI alpha 1 chain Neighboring gene NANOG hESC enhancer GRCh37_chr6:56142823-56143330 Neighboring gene NANOG hESC enhancer GRCh37_chr6:56144052-56144553 Neighboring gene dihydrofolate reductase pseudogene 6 Neighboring gene regulator of chromosome condensation 2 pseudogene 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56399527-56400028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56400029-56400528 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:56406989-56407754 Neighboring gene MPRA-validated peak5860 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24703 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:56579434-56579994 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:56579995-56580556 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:56581759-56582299 Neighboring gene NANOG hESC enhancer GRCh37_chr6:56616684-56617267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17296 Neighboring gene NANOG hESC enhancer GRCh37_chr6:56624276-56624832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24704 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:56640200-56641045 Neighboring gene MPRA-validated peak5861 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56707357-56708225 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:56708226-56709093 Neighboring gene Sharpr-MPRA regulatory region 11401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24706 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92363 Neighboring gene DST antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_92364 Neighboring gene ribosomal protein L17 pseudogene 26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24707 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:56803197-56804396 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:56818611-56819242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17300 Neighboring gene RNA, U6 small nuclear 626, pseudogene Neighboring gene BEN domain containing 6 Neighboring gene oligosaccharyltransferase complex subunit pseudogene 6 Neighboring gene ferritin heavy chain 1 pseudogene 15

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ46791, KIAA0465, KIAA1470, DKFZp564B2416

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables integrin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables microtubule plus-end binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural molecule activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in hemidesmosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in intermediate filament cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intermediate filament cytoskeleton organization IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in intermediate filament cytoskeleton organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in maintenance of cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to wounding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retrograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in wound healing IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in H zone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in basal plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in basement membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cell cortex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion HDA PubMed 
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in hemidesmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in hemidesmosome TAS
    Traceable Author Statement
    more info
    PubMed 
    colocalizes_with intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in microtubule plus-end IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear envelope IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus HDA PubMed 
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dystonin
    Names
    bullous pemphigoid antigen
    bullous pemphigoid antigen 1
    dystonia musculorum protein
    hemidesmosomal plaque protein
    trabeculin-beta

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029322.2 RefSeqGene

      Range
      4799..501633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144769.5NP_001138241.1  dystonin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
      UniProtKB/TrEMBL
      Q5T0V7
      Related
      ENSP00000393082.3, ENST00000449297.7
      Conserved Domains (8) summary
      smart00150
      Location:786877
      SPEC; Spectrin repeats
      COG0419
      Location:12231828
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00014
      Location:214316
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:52935355
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:44714686
      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; ...
      pfam02187
      Location:53715444
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:52945354
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:30483259
      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; ...
    2. NM_001144770.2NP_001138242.1  dystonin isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005
      Consensus CDS
      CCDS75474.1
      UniProtKB/TrEMBL
      E7ETB9, F6QMI7
      Related
      ENSP00000307959.7, ENST00000312431.10
      Conserved Domains (8) summary
      smart00150
      Location:648739
      SPEC; Spectrin repeats
      COG0419
      Location:10851690
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00014
      Location:76178
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:51555217
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:43334548
      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; ...
      pfam02187
      Location:52335306
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:51565216
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:29103121
      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; ...
    3. NM_001374722.1NP_001361651.1  dystonin isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
      UniProtKB/Swiss-Prot
      B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
      Conserved Domains (12) summary
      pfam05483
      Location:12051480
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      smart00243
      Location:74877565
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      smart00150
      Location:819910
      SPEC; Spectrin repeats
      smart00250
      Location:17631794
      PLEC; Plectin repeat
      COG1196
      Location:38314631
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG5069
      Location:208465
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:74127474
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:65906805
      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; ...
      cl02488
      Location:14051569
      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; ...
      pfam00681
      Location:19852025
      Plectin; Plectin repeat
      pfam17902
      Location:10871153
      SH3_10; SH3 domain
      pfam18373
      Location:11881265
      Spectrin_like; Spectrin like domain
    4. NM_001374729.1NP_001361658.1  dystonin isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005
      Consensus CDS
      CCDS93935.1
      UniProtKB/Swiss-Prot
      B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
      UniProtKB/TrEMBL
      F8W9J4
      Related
      ENSP00000354508.3, ENST00000361203.7
      Conserved Domains (12) summary
      pfam05483
      Location:10331269
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      smart00250
      Location:15521583
      PLEC; Plectin repeat
      COG1196
      Location:36204420
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG5069
      Location:35254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:70927154
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:62706485
      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; ...
      cl02488
      Location:11941358
      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; ...
      pfam00681
      Location:17741814
      Plectin; Plectin repeat
      pfam02187
      Location:71697243
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam17902
      Location:876942
      SH3_10; SH3 domain
      pfam18373
      Location:9771054
      Spectrin_like; Spectrin like domain
    5. NM_001374730.1NP_001361659.1  dystonin isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005
      Consensus CDS
      CCDS93934.1
      UniProtKB/TrEMBL
      E7ETB9
      Related
      ENSP00000359824.2, ENST00000370788.6
      Conserved Domains (11) summary
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      PHA03307
      Location:52205375
      PHA03307; transcriptional regulator ICP4; Provisional
      COG0419
      Location:10451650
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG5069
      Location:35254
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:50065068
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:41844399
      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; ...
      TIGR02168
      Location:15112304
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      cl02488
      Location:28703081
      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; ...
      pfam02187
      Location:50835157
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam17902
      Location:876942
      SH3_10; SH3 domain
      pfam18373
      Location:9771054
      Spectrin_like; Spectrin like domain
    6. NM_001374734.1NP_001361663.1  dystonin isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
      UniProtKB/Swiss-Prot
      B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
      Conserved Domains (12) summary
      pfam05483
      Location:12141489
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      smart00243
      Location:74967574
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      smart00150
      Location:828919
      SPEC; Spectrin repeats
      smart00250
      Location:17721803
      PLEC; Plectin repeat
      COG1196
      Location:38404640
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG5069
      Location:217474
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:74217483
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:65996814
      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; ...
      cl02488
      Location:14141578
      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; ...
      pfam00681
      Location:19942034
      Plectin; Plectin repeat
      pfam17902
      Location:10961162
      SH3_10; SH3 domain
      pfam18373
      Location:11971274
      Spectrin_like; Spectrin like domain
    7. NM_001374736.1NP_001361665.1  dystonin isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005, AL590037
      Consensus CDS
      CCDS93936.1
      UniProtKB/Swiss-Prot
      B7Z3H1, E7ERU0, O94833, Q03001, Q12825, Q13266, Q13267, Q13775, Q5TBT0, Q5TBT2, Q5TF23, Q5TF24, Q8N1T8, Q8N8J3, Q8WXK8, Q8WXK9, Q96AK9, Q96DQ5, Q96J76, Q96QT5, Q9H555, Q9UGD7, Q9UGD8, Q9UN10
      UniProtKB/TrEMBL
      A0A7P0T890
      Related
      ENSP00000505098.1, ENST00000680361.1
      Conserved Domains (12) summary
      pfam05483
      Location:12051480
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      smart00150
      Location:819910
      SPEC; Spectrin repeats
      smart00250
      Location:17631794
      PLEC; Plectin repeat
      COG1196
      Location:38314631
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      COG5069
      Location:208465
      SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]
      cd00051
      Location:74127474
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:65906805
      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; ...
      cl02488
      Location:14051569
      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; ...
      pfam00681
      Location:19852025
      Plectin; Plectin repeat
      pfam02187
      Location:74897563
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam17902
      Location:10871153
      SH3_10; SH3 domain
      pfam18373
      Location:11881265
      Spectrin_like; Spectrin like domain
    8. NM_001386100.1NP_001373029.1  dystonin isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005
      UniProtKB/TrEMBL
      E7ETB9
      Conserved Domains (11) summary
      pfam05483
      Location:11771813
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      smart00243
      Location:51905262
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      COG1196
      Location:15082334
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00051
      Location:51155177
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:42934508
      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; ...
      pfam17902
      Location:876942
      SH3_10; SH3 domain
      pfam18373
      Location:9771054
      Spectrin_like; Spectrin like domain
      cd21236
      Location:20147
      CH_DYST_rpt1; first calponin homology (CH) domain found in dystonin and similar proteins
      cd21239
      Location:152255
      CH_DYST_rpt2; second calponin homology (CH) domain found in dystonin and similar proteins
      cl02488
      Location:28703081
      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; ...
    9. NM_001723.7NP_001714.1  dystonin isoform 1e precursor

      See identical proteins and their annotated locations for NP_001714.1

      Status: REVIEWED

      Source sequence(s)
      BU685436, DA462108, L11690
      Consensus CDS
      CCDS4959.1
      UniProtKB/Swiss-Prot
      Q03001
      Related
      ENSP00000359801.6, ENST00000370765.11
      Conserved Domains (8) summary
      pfam05483
      Location:7111373
      SCP-1; Synaptonemal complex protein 1 (SCP-1)
      smart00150
      Location:282373
      SPEC; Spectrin repeats
      smart00250
      Location:25152552
      PLEC; Plectin repeat
      cd00176
      Location:375557
      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; ...
      pfam00681
      Location:24782517
      Plectin; Plectin repeat
      pfam03528
      Location:15721888
      Rabaptin; Rabaptin
      pfam09728
      Location:14301722
      Taxilin; Myosin-like coiled-coil protein
      cl02488
      Location:8681032
      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; ...
    10. NM_015548.5NP_056363.2  dystonin isoform 1eA precursor

      See identical proteins and their annotated locations for NP_056363.2

      Status: REVIEWED

      Source sequence(s)
      AF400226, AK055189, AL137008, AL512448, CD367397, DA462108, L11690
      Consensus CDS
      CCDS47443.1
      UniProtKB/TrEMBL
      E7ETB9
      Related
      ENSP00000244364.6, ENST00000244364.10
      Conserved Domains (7) summary
      smart00150
      Location:282373
      SPEC; Spectrin repeats
      COG0419
      Location:7191324
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00051
      Location:47894851
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:39674182
      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; ...
      pfam02187
      Location:48674940
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:47904850
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:25442755
      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; ...
    11. NM_183380.4NP_899236.1  dystonin isoform 1

      See identical proteins and their annotated locations for NP_899236.1

      Status: REVIEWED

      Source sequence(s)
      AL096710, AL137008, AL512422, AL512448, AL590005
      UniProtKB/TrEMBL
      E7ETB9, E9PHM6
      Related
      ENSP00000400883.3, ENST00000421834.7
      Conserved Domains (8) summary
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      COG0419
      Location:10451650
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      cd00014
      Location:36138
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      cd00051
      Location:51155177
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      cd00176
      Location:42934508
      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; ...
      pfam02187
      Location:51935266
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:51165176
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:28703081
      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; ...

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      56457996..56954830 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      56299279..56793877 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001144771.1: Suppressed sequence

      Description
      NM_001144771.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_020388.3: Suppressed sequence

      Description
      NM_020388.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.