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

Gene ID: 1295, updated on 3-Jun-2018
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; Vega:OTTHUMG00000148669
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
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 (yeast) Neighboring gene transmembrane protein 258 pseudogene

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: CMSS1

Homology

Clone Names

  • MGC9568

Gene Ontology Provided by GOA

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
 
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

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_001850.4NP_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)
    AK311449, BC013581, CB269463, DA663372
    Consensus CDS
    CCDS2934.1
    UniProtKB/Swiss-Prot
    P27658
    Related
    ENSP00000261037.3, OTTHUMP00000192896, ENST00000261037.7, OTTHUMT00000309001
    Conserved Domains (2) summary
    smart00110
    Location:609744
    C1Q; Complement component C1q domain
    pfam01391
    Location:284335
    Collagen; Collagen triple helix repeat (20 copies)
  2. NM_020351.3NP_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)
    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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    99638596..99796733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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