ZFIN ID: ZDB-GENE-090728-1
Gene Name: collagen, type XII, alpha 1a
Gene Symbol: col12a1a    Nomenclature History

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Previous Names: col12a1, fa99f12, wu:fa99f12

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 17 Mapping Details/Browsers
Description: Involved in regeneration and regulation of axon regeneration. Predicted to localize to the collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Is expressed in several structures, including immature eye; integument; myoseptum; nervous system; and trunk vasculature. Orthologous to human COL12A1 (collagen type XII alpha 1 chain).
Genome Resources: Alliance (1),  Gene:100149543 (1),  Ensembl(GRCz11):ENSDARG00000078322 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa850 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa12155 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-col12a1a
    1
    MO1-col12a1a N/A 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH col12a1a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Bethlem myopathy 2 616471
    ?Ullrich congenital muscular dystrophy 2 616470
    DISEASE ASSOCIATED WITH col12a1a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process regeneration (more)
    Cellular Component collagen trimer (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Domain IPR001791 Laminin G domain
    Domain IPR002035 von Willebrand factor, type A
    Domain IPR003961 Fibronectin type III
    Repeat IPR008160 Collagen triple helix repeat
    Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
    Homologous_superfamily IPR013783 Immunoglobulin-like fold
    Homologous_superfamily IPR036116 Fibronectin type III superfamily
    Homologous_superfamily IPR036465 von Willebrand factor A-like domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA col12a1a-201 (1)    Ensembl 10560
    col12a1a-202 (1)    Ensembl 940
    ncRNA col12a1a-002 (1) 630
    Browsers: NCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-col12a1 polyclonal Rabbit IHC 5
    Ab2-col12a1 polyclonal Guinea pig IHC, WB 2
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM col12a1a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(hsp70l:col12a1a-p2A-Cerulean) hsp70l 2ACeruleancol12a1a Danio rerio 1 2
    MARKER RELATIONSHIPS
    col12a1a Contained in: [BAC] CH73-133O19 (1), CH73-213I16 (1)
    [Fosmid] CH1073-18E6 (1), CH1073-327K3 (1), ZFOS-756G12 (1)
    col12a1a Encodes: [EST] fa99f12
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:XM_002665259 (1) 10557 bp
    Genomic GenBank:CU693377 (1) 93968 bp
    Select Tool
    Polypeptide UniProtKB:X1WF98 (1) 2975 aa
    Sequence Information (all 26)
    ORTHOLOGY for col12a1a ( Chr: 17 )
    CITATIONS (34)