ZFIN ID: ZDB-GENE-030131-2427
Gene Name: collagen, type VII, alpha 1
Gene Symbol: col7a1    Nomenclature History

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Previous Names: col7a1a (1), fc07e08, wu:fc07e08 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 6 Mapping Details/Browsers
Description: Predicted to have serine-type endopeptidase inhibitor activity. Predicted to be involved in growth plate cartilage chondrocyte morphogenesis. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Is expressed in hypodermis. Human ortholog(s) of this gene implicated in autosomal dominant dystrophic epidermolysis bullosa; epidermolysis bullosa dystrophica; epidermolysis bullosa with congenital localized absence of skin and deformity of nails; nonsyndromic congenital nail disorder 8; and transient bullous dermolysis of the newborn. Orthologous to human COL7A1 (collagen type VII alpha 1 chain).
Genome Resources: Alliance (1),  Gene:100332562 (1),  Ensembl(GRCz11):ENSDARG00000021720 (2)
GENE EXPRESSION
All Expression Data: Fig. T2 from Li et al., 2011
Wild-type Stages, Structures: Pharyngula:Prim-5 (24.0h-30.0h) to Adult (90d-730d, breeding adult)
 
High Throughput Expression: GEO (1) Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa1097 Point Mutation Unknown Premature Stop ENU
sa12429 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa20771 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa20772 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa20773 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa26794 Point Mutation Unknown Splice Site ENU
    sa31533 Point Mutation Unknown Unknown ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa33920 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa33921 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa33922 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa38571 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa45261 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH col7a1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    autosomal dominant dystrophic epidermolysis bullosa Alliance Epidermolysis bullosa dystrophica, AD 131750
    epidermolysis bullosa with congenital localized absence of skin and deformity of nails Alliance EBD, Bart type 132000
    nonsyndromic congenital nail disorder 8 Alliance Toenail dystrophy, isolated 607523
    recessive dystrophic epidermolysis bullosa Alliance EBD inversa 226600
    Epidermolysis bullosa dystrophica, AR 226600
    transient bullous dermolysis of the newborn Alliance Transient bullous of the newborn 131705
    EBD, localisata variant
    Epidermolysis bullosa pruriginosa 604129
    Epidermolysis bullosa, pretibial 131850
    DISEASE ASSOCIATED WITH col7a1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Cellular Component collagen-containing extracellular matrix (more)
    Molecular Function serine-type endopeptidase inhibitor activity (more)
    GO Terms (all 3)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA col7a1-202 (1)    Ensembl 10971
    col7a1-203 (1)    Ensembl 509
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM col7a1 No data available
    MARKER RELATIONSHIPS
    col7a1 Contained in: [BAC] CH211-242N18 (1), DKEY-28N18 (1) (order this)
    col7a1 Encodes: [EST] fc07e08
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:XM_009302595 (1)
    Genomic GenBank:BX936393 (1) 204873 nt Blast at MegaBLAST
    Polypeptide UniProtKB:E7FA40 (1) 3093 aa
    Sequence Information (all 17)
    ORTHOLOGY for col7a1 ( Chr: 6 )
    CITATIONS (20)