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

    Gene ID: 1295, updated on 9-Dec-2024

    Summary

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    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; AllianceGenome:HGNC:2215
    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
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    Genomic context

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    See COL8A1 in Genome Data Viewer
    Location:
    3q12.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (99638594..99799217)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (102343632..102504274)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (99357438..99518061)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986104 Neighboring gene uncharacterized LOC105374004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20145 Neighboring gene uncharacterized LOC105374007 Neighboring gene NANOG hESC enhancer GRCh37_chr3:99158569-99159104 Neighboring gene uncharacterized LOC105374005 Neighboring gene uncharacterized LOC124909401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:99377337-99378536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20147 Neighboring gene Sharpr-MPRA regulatory region 15587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:99513015-99514014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:99536557-99537431 Neighboring gene uncharacterized LOC105374010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:99562339-99562840 Neighboring gene Sharpr-MPRA regulatory region 1863 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14566 Neighboring gene uncharacterized LOC101929357 Neighboring gene Sharpr-MPRA regulatory region 14327 Neighboring gene filamin A interacting protein 1 like Neighboring gene cms1 ribosomal small subunit homolog Neighboring gene TMEM258 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature. Ogreden TA, et al. BMC Ophthalmol, 2024 Apr 4. PMID 38575892, Free PMC Article
    2. Whole-Exome Sequencing in Age-Related Macular Degeneration Identifies Rare Variants in COL8A1, a Component of Bruch's Membrane. Corominas J, et al. Ophthalmology, 2018 Sep. PMID 29706360, Free PMC Article
    3. Co-expression Network Analysis Identified COL8A1 Is Associated with the Progression and Prognosis in Human Colon Adenocarcinoma. Shang J, et al. Dig Dis Sci, 2018 May. PMID 29497907
    4. Type VIII collagen is elevated in diseases associated with angiogenesis and vascular remodeling. Hansen NU, et al. Clin Biochem, 2016 Aug. PMID 27234597
    5. COL8A1 rs13095226 polymorphism shows no association with neovascular age-related macular degeneration or polypoidal choroidal vasculopathy in Chinese subjects. Yu Y, et al. Int J Clin Exp Pathol, 2015. PMID 26617902, Free PMC Article

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. COL8A1 is a potential prognostic biomarker associated with migration, proliferation, and tumor microenvironment in glioma.
      Title: COL8A1 is a potential prognostic biomarker associated with migration, proliferation, and tumor microenvironment in glioma.
    2. COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and Invasion Through PI3K/AKT Pathway.
      Title: COL8A1 Regulates Esophageal Squamous Carcinoma Proliferation and Invasion Through PI3K/AKT Pathway.
    3. Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.
      Title: Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.
    4. Molecular prognostic of nine parthanatos death-related genes in glioma, particularly in COL8A1 identification.
      Title: Molecular prognostic of nine parthanatos death-related genes in glioma, particularly in COL8A1 identification.
    5. COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression.
      Title: COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression.
    6. Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma.
      Title: Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma.
    7. COL8A1 facilitates the growth of triple-negative breast cancer via FAK/Src activation.
      Title: COL8A1 facilitates the growth of triple-negative breast cancer via FAK/Src activation.
    8. Serum Levels of ARMS2, COL8A1, RAD51B, and VEGF and their Correlations in Age-related Macular Degeneration.
      Title: Serum Levels of ARMS2, COL8A1, RAD51B, and VEGF and their Correlations in Age-related Macular Degeneration.
    9. RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.
      Title: RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.
    10. Serum vastatin (the NC1 domain of human type VIII collagen a1 chain) was detectable in 114 of 115 colorectal cancer (CRC) subjects and was elevated in blood of CRC patients compared to controls. Vastatin correlated with age in controls but not in patients with CRC. Results indicate that vastatin is linked to stromal reactivity and suggests that vastatin has biomarker potential in CRC.
      Title: Vastatin (the NC1 domain of human type VIII collagen a1 chain) is linked to stromal reactivity and elevated in serum from patients with colorectal cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (29)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CMSS1

    Homology

    Clone Names

    • MGC9568

    Gene Ontology Provided by GOA

    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 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of collagen type VIII trimer TAS
    Traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    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 endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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)

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    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_001850.5 → NP_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
      D3DN42, P27658, Q53XI6, Q96D07
      UniProtKB/TrEMBL
      A1KY36
      Related
      ENSP00000261037.3, ENST00000261037.7
      Conserved Domains (2) summary
      smart00110
      Location:609 → 744
      C1Q; Complement component C1q domain
      pfam01391
      Location:284 → 335
      Collagen; Collagen triple helix repeat (20 copies)

    2. NM_020351.4 → NP_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
      D3DN42, P27658, Q53XI6, Q96D07
      UniProtKB/TrEMBL
      A1KY36
      Related
      ENSP00000498483.1, ENST00000652472.1
      Conserved Domains (2) summary
      smart00110
      Location:609 → 744
      C1Q; Complement component C1q domain
      pfam01391
      Location:284 → 335
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      102343632..102504274
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P27658.2 GenPept UniProtKB/Swiss-Prot:P27658

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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