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    COL8A1 collagen type VIII alpha 1 chain [ Homo sapiens (human) ]

    Gene ID: 1295, updated on 15-Jun-2019

    Summary

    Official Symbol
    COL8A1provided by HGNC
    Official Full Name
    collagen type VIII alpha 1 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2215
    See related
    Ensembl:ENSG00000144810 MIM:120251
    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
    C3orf7
    Summary
    This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
    Expression
    Biased expression in urinary bladder (RPKM 16.8), lung (RPKM 16.6) and 13 other tissues See more
    Orthologs

    Genomic context

    See COL8A1 in Genome Data Viewer
    Location:
    3q12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (99638596..99796733)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (99357440..99518061)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986104 Neighboring gene uncharacterized LOC105374004 Neighboring gene uncharacterized LOC105374007 Neighboring gene uncharacterized LOC105374005 Neighboring gene uncharacterized LOC105374006 Neighboring gene uncharacterized LOC101929357 Neighboring gene filamin A interacting protein 1 like Neighboring gene cms1 ribosomal small subunit homolog Neighboring gene transmembrane protein 258 pseudogene

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Common variants at 1p36 are associated with superior frontal gyrus volume.
    NHGRI GWA Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
    NHGRI GWA Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen chain trimerization, organism-specific biosystem (from REACTOME)
      Collagen chain trimerization, organism-specific biosystemThe C-propeptides of collagen propeptide chains are essential for the association of three peptide chains into a trimeric but non-helical procollagen. This initial binding event determines the compo...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: CMSS1

    Homology

    Clone Names

    • MGC9568

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular matrix structural constituent conferring tensile strength RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    epithelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    collagen type VIII trimer TAS
    Traceable Author Statement
    more info
    PubMed 
    collagen-containing extracellular matrix HDA PubMed 
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    collagen alpha-1(VIII) chain
    Names
    cell proliferation-inducing protein 41
    collagen VIII, alpha-1 polypeptide
    collagen, type VIII, alpha 1
    endothelial collagen
    smag-64
    smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64

    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_001850.5NP_001841.2  collagen alpha-1(VIII) chain precursor

      See identical proteins and their annotated locations for NP_001841.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC055723, AC069222, AK311449, BC013581, CB269463, DA663372
      Consensus CDS
      CCDS2934.1
      UniProtKB/Swiss-Prot
      P27658
      Related
      ENSP00000261037.3, ENST00000261037.7
      Conserved Domains (2) summary
      smart00110
      Location:609744
      C1Q; Complement component C1q domain
      pfam01391
      Location:284335
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_020351.4NP_065084.2  collagen alpha-1(VIII) chain precursor

      See identical proteins and their annotated locations for NP_065084.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC055723, AC069222, AK311449, BG938623, BT009917, CN484310, DA663372
      Consensus CDS
      CCDS2934.1
      UniProtKB/Swiss-Prot
      P27658
      Related
      ENSP00000273342.3, ENST00000273342.8
      Conserved Domains (2) summary
      smart00110
      Location:609744
      C1Q; Complement component C1q domain
      pfam01391
      Location:284335
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      99638594..99799217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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