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

Gene ID: 1295, updated on 16-Apr-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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Location:
3q12.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (99638594..99799217)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (102343632..102504274)
105.20220307 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 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. COL8A1 enhances the invasion/metastasis in MDA-MB-231 cells via the induction of IL1B and MMP1 expression. Sagara A, et al. Biochem Biophys Res Commun, 2023 Jan 29. PMID 36577251
  2. Tumor and stroma COL8A1 secretion induces autocrine and paracrine progression signaling in pancreatic ductal adenocarcinoma. Yan B, et al. Matrix Biol, 2022 Dec. PMID 36375776
  3. COL8A1 facilitates the growth of triple-negative breast cancer via FAK/Src activation. Sato F, et al. Breast Cancer Res Treat, 2022 Jul. PMID 35624176
  4. Genetic factors for idiopathic choroidal neovascularization. Cao XS, et al. Ophthalmic Genet, 2019 Aug. PMID 31512979
  5. RAD51B (rs8017304 and rs2588809), TRIB1 (rs6987702, rs4351379, and rs4351376), COL8A1 (rs13095226), and COL10A1 (rs1064583) Gene Variants with Predisposition to Age-Related Macular Degeneration. Vilkeviciute A, et al. Dis Markers, 2019. PMID 31191752, Free PMC Article

See all (68) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Single nucleotide polymorphisms in the COL8A1 gene is associated with idiopathic choroidal neovascularization.
    Title: Genetic factors for idiopathic choroidal neovascularization.
Submit: New GeneRIF Correction See all GeneRIFs (28)

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)

Genotypes

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_2023_10

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

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