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    Col8a1 collagen, type VIII, alpha 1 [ Mus musculus (house mouse) ]

    Gene ID: 12837, updated on 9-Dec-2024

    Summary

    Official Symbol
    Col8a1provided by MGI
    Official Full Name
    collagen, type VIII, alpha 1provided by MGI
    Primary source
    MGI:MGI:88463
    See related
    Ensembl:ENSMUSG00000068196 AllianceGenome:MGI:88463
    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
    Col8a-1
    Summary
    Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within camera-type eye morphogenesis; endothelial cell proliferation; and positive regulation of cell-substrate adhesion. Located in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including brain; craniocervical region bone; gut; heart; and limb mesenchyme. Orthologous to human COL8A1 (collagen type VIII alpha 1 chain). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in bladder adult (RPKM 10.3), limb E14.5 (RPKM 3.6) and 13 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Col8a1 in Genome Data Viewer
    Location:
    16 C1.1; 16 34.22 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (57444619..57575100, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (57624256..57754737, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene cms small ribosomal subunit 1 Neighboring gene filamin A interacting protein 1-like Neighboring gene STARR-positive B cell enhancer ABC_E7469 Neighboring gene STARR-seq mESC enhancer starr_41088 Neighboring gene STARR-positive B cell enhancer ABC_E10913 Neighboring gene predicted gene, 53930 Neighboring gene STARR-positive B cell enhancer ABC_E4181 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:57606921-57607108 Neighboring gene microRNA 1970b Neighboring gene STARR-positive B cell enhancer mm9_chr16:57669432-57669732 Neighboring gene STARR-seq mESC enhancer starr_41090 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 24039

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables extracellular matrix structural constituent conferring tensile strength IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables extracellular matrix structural constituent conferring tensile strength RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within camera-type eye morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endodermal cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within endothelial cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within positive regulation of cell-substrate adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in collagen-containing extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    collagen alpha-1(VIII) chain
    Names
    procollagen type VIII alpha 1

    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.

    mRNA and Protein(s)

    1. NM_007739.2NP_031765.2  collagen alpha-1(VIII) chain precursor

      See identical proteins and their annotated locations for NP_031765.2

      Status: VALIDATED

      Source sequence(s)
      AC162943, AK046370, AV334655, BY289783
      Consensus CDS
      CCDS37367.1
      UniProtKB/Swiss-Prot
      B8JJL9, Q00780, Q3TWU7, Q8BGL6, Q921S8, Q9D2V4
      Related
      ENSMUSP00000086745.5, ENSMUST00000089332.5
      Conserved Domains (2) summary
      smart00110
      Location:609744
      C1Q; Complement component C1q domain
      pfam01391
      Location:445502
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      57444619..57575100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)