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    Dst dystonin [ Mus musculus (house mouse) ]

    Gene ID: 13518, updated on 31-Jan-2019

    Summary

    Official Symbol
    Dstprovided by MGI
    Official Full Name
    dystoninprovided by MGI
    Primary source
    MGI:MGI:104627
    See related
    Ensembl:ENSMUSG00000026131
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ah; dt; Bpag; BP230; Bpag1; Macf2; nmf203; nmf339; BPAG1-n; AW554249; athetoid; mKIAA0728; 2310001O04Rik; A830042E19Rik
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 8.8), bladder adult (RPKM 7.5) and 28 other tissues See more
    Orthologs

    Genomic context

    See Dst in Genome Data Viewer
    Location:
    1 B; 1 12.91 cM
    Exon count:
    112
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 1 NC_000067.6 (33908213..34308662)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (34068670..34365497)

    Chromosome 1 - NC_000067.6Genomic Context describing neighboring genes Neighboring gene predicted gene 15455 Neighboring gene BEN domain containing 6 Neighboring gene predicted gene, 38471 Neighboring gene microRNA 6896 Neighboring gene predicted gene, 26788 Neighboring gene 3-phosphoglycerate dehydrogenase pseudogene Neighboring gene microRNA 5103

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (16)  1 citation
    • Transgenic (1)  1 citation
    • Chemically induced (other) (1) 
    • Gene trapped (1) 
    • Targeted (3)  1 citation
    • Chemically induced (ENU) (6) 
    • Endonuclease-mediated (2) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeletal protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    structural molecule activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    axonogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasmic microtubule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    hemidesmosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intermediate filament cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of microtubule polymerization or depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    retrograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    wound healing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    H zone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hemidesmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    hemidesmosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intercalated disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neurofilament cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stress fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    dystonin
    Names
    BPA
    bullous pemphigoid antigen 1, isoform 5
    bullous pemphigoid antigen 1, isoforms 1/2/3/4
    bullous pemphigoid antigen 1, isoforms 6/7
    dystonia musculorum protein
    hemidesmosomal plaque protein
    microtubule actin cross-linking factor 2

    NCBI Reference Sequences (RefSeq)

    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_001276764.1NP_001263693.1  dystonin isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC123072, AC124386, AC127433
      Consensus CDS
      CCDS69874.1
      UniProtKB/TrEMBL
      S4R1P5
      Related
      ENSMUSP00000138308.1, ENSMUST00000183034.4
      Conserved Domains (9) summary
      smart00150
      Location:786877
      SPEC; Spectrin repeats
      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:73107372
      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:64886703
      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:37154529
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:19501990
      Plectin; Plectin repeat
      pfam02187
      Location:73887461
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:73117371
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:13711535
      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_010081.2NP_034211.2  dystonin isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4, also known as e) has multiple differences in the coding region and UTRs compared to variant 1. This variant encodes isoform 4 (also known as e), which has distinct N- and C-termini and is significantly shorter than isoform 1.
      Source sequence(s)
      AC127433
      Consensus CDS
      CCDS69875.1
      UniProtKB/Swiss-Prot
      Q91ZU6
      Related
      ENSMUSP00000138376.3, ENSMUST00000183302.5
      Conserved Domains (7) summary
      smart00150
      Location:282373
      SPEC; Spectrin repeats
      smart00250
      Location:25042541
      PLEC; Plectin repeat
      COG1196
      Location:7211477
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00176
      Location:375563
      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:24672506
      Plectin; Plectin repeat
      pfam09728
      Location:13991712
      Taxilin; Myosin-like coiled-coil protein
      cl02488
      Location:8671031
      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_133833.3NP_598594.2  dystonin isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3, also known as a) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks seven alternate in-frame exons in the coding region. The encoded isoform (3, also known as a) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC123072, AC124386, AC127433
      Consensus CDS
      CCDS35535.1
      UniProtKB/Swiss-Prot
      Q91ZU6
      Related
      ENSMUSP00000095393.2, ENSMUST00000097786.9
      Conserved Domains (8) summary
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      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:50095071
      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:41874402
      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:14802337
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam02187
      Location:50875160
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:50105070
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:11931357
      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; ...
    4. NM_134448.3NP_604443.2  dystonin isoform 2

      See identical proteins and their annotated locations for NP_604443.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2, also known as b) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. This variant also lacks two alternate in-frame exons in the coding region. The encoded isoform (2, also known as b) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC123072, AC124386, AC127433
      Consensus CDS
      CCDS35534.1
      UniProtKB/Swiss-Prot
      Q91ZU6
      Related
      ENSMUSP00000095392.2, ENSMUST00000097785.9
      Conserved Domains (9) summary
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      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:70237085
      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:62016416
      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:35374351
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:17721812
      Plectin; Plectin repeat
      pfam02187
      Location:71017174
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:70247084
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:11931357
      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: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000067.6 Reference GRCm38.p4 C57BL/6J

      Range
      33908213..34308662
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017314676.1XP_017170165.1  dystonin isoform X6

    2. XM_017314722.1XP_017170211.1  dystonin isoform X13

    3. XM_017314621.1XP_017170110.1  dystonin isoform X1

    4. XM_017314651.1XP_017170140.1  dystonin isoform X4

    5. XM_017314687.1XP_017170176.1  dystonin isoform X7

    6. XM_017314635.1XP_017170124.1  dystonin isoform X2

    7. XM_017314689.1XP_017170178.1  dystonin isoform X8

    8. XM_017314706.1XP_017170195.1  dystonin isoform X10

    9. XM_006495666.3XP_006495729.1  dystonin isoform X3

      Conserved Domains (9) summary
      smart00150
      Location:786877
      SPEC; Spectrin repeats
      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:73117373
      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:64896704
      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:37164530
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:19511991
      Plectin; Plectin repeat
      pfam02187
      Location:73897462
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:73127372
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:13721536
      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. XM_006495690.3XP_006495753.1  dystonin isoform X29

      Conserved Domains (9) summary
      smart00150
      Location:786877
      SPEC; Spectrin repeats
      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:73117373
      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:64896704
      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:37164530
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:19511991
      Plectin; Plectin repeat
      pfam02187
      Location:73897456
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:73127372
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:13721536
      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. XM_006495691.3XP_006495754.1  dystonin isoform X30

      Conserved Domains (8) summary
      smart00150
      Location:786877
      SPEC; Spectrin repeats
      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:72027264
      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:63806595
      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:19511991
      Plectin; Plectin repeat
      pfam02187
      Location:72807353
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:72037263
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:13721536
      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; ...
    12. XM_017314665.1XP_017170154.1  dystonin isoform X5

    13. XM_017314794.1XP_017170283.1  dystonin isoform X20

    14. XM_017314811.1XP_017170300.1  dystonin isoform X22

    15. XM_006495682.2XP_006495745.1  dystonin isoform X21

      Conserved Domains (8) summary
      smart00150
      Location:786877
      SPEC; Spectrin repeats
      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:52975359
      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:44754690
      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:16592516
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam02187
      Location:53755448
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:52985358
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:13721536
      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; ...
    16. XM_017314712.1XP_017170201.1  dystonin isoform X11

    17. XM_017314716.1XP_017170205.1  dystonin isoform X12

    18. XM_006495674.3XP_006495737.1  dystonin isoform X14

      Conserved Domains (9) summary
      smart00150
      Location:648739
      SPEC; Spectrin repeats
      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:71737235
      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:63516566
      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:35784392
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:18131853
      Plectin; Plectin repeat
      pfam02187
      Location:72517324
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:71747234
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:12341398
      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; ...
    19. XM_017314741.1XP_017170230.1  dystonin isoform X15

    20. XM_006495678.3XP_006495741.1  dystonin isoform X17

      Conserved Domains (9) summary
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      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:71337195
      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:63116526
      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:35384352
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:17731813
      Plectin; Plectin repeat
      pfam02187
      Location:72117284
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:71347194
      EF-hand_7; EF-hand domain pair
      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; ...
    21. XM_006495688.3XP_006495751.1  dystonin isoform X27

      Conserved Domains (9) summary
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      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:71337195
      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:63116526
      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:35384352
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:17731813
      Plectin; Plectin repeat
      pfam02187
      Location:72117284
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:71347194
      EF-hand_7; EF-hand domain pair
      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; ...
    22. XM_017314848.1XP_017170337.1  dystonin isoform X26

    23. XM_006495684.3XP_006495747.1  dystonin isoform X23

      Conserved Domains (8) summary
      smart00150
      Location:608699
      SPEC; Spectrin repeats
      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:51195181
      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:42974512
      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:14812338
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam02187
      Location:51975270
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:51205180
      EF-hand_7; EF-hand domain pair
      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; ...
    24. XM_017314868.1XP_017170357.1  dystonin isoform X28

    25. XM_017314750.1XP_017170239.1  dystonin isoform X16

    26. XM_006495679.3XP_006495742.1  dystonin isoform X18

      Conserved Domains (9) summary
      smart00150
      Location:521612
      SPEC; Spectrin repeats
      cd00014
      Location:65168
      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:70467108
      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:62246439
      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:34514265
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:16861726
      Plectin; Plectin repeat
      pfam02187
      Location:71247197
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:70477107
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:11071271
      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; ...
    27. XM_006495669.3XP_006495732.1  dystonin isoform X9

      Conserved Domains (9) summary
      smart00150
      Location:724815
      SPEC; Spectrin repeats
      cd00014
      Location:268371
      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:72497311
      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:64276642
      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:36544468
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:18891929
      Plectin; Plectin repeat
      pfam02187
      Location:73277400
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:72507310
      EF-hand_7; EF-hand domain pair
      cl02488
      Location:13101474
      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; ...
    28. XM_006495686.3XP_006495749.1  dystonin isoform X25

      Conserved Domains (7) summary
      smart00150
      Location:282373
      SPEC; Spectrin repeats
      smart00250
      Location:25052542
      PLEC; Plectin repeat
      COG1196
      Location:7221478
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cd00176
      Location:375564
      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:24682507
      Plectin; Plectin repeat
      pfam09728
      Location:14001713
      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; ...
    29. XM_006495680.3XP_006495743.1  dystonin isoform X19

      Conserved Domains (8) summary
      smart00150
      Location:282373
      SPEC; Spectrin repeats
      cd00051
      Location:68076869
      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:59856200
      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:32124026
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam00681
      Location:14471487
      Plectin; Plectin repeat
      pfam02187
      Location:68856958
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:68086868
      EF-hand_7; EF-hand domain pair
      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; ...
    30. XM_006495685.2XP_006495748.1  dystonin isoform X24

      Related
      ENSMUSP00000141127.1, ENSMUST00000185269.6
      Conserved Domains (7) summary
      smart00150
      Location:282373
      SPEC; Spectrin repeats
      cd00051
      Location:47934855
      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:39714186
      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:11552012
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam02187
      Location:48714944
      GAS2; Growth-Arrest-Specific Protein 2 Domain
      pfam13499
      Location:47944854
      EF-hand_7; EF-hand domain pair
      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; ...
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