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] See more...

Aliases for COL8A1 Gene

Aliases for COL8A1 Gene

  • Collagen Type VIII Alpha 1 Chain 2 3 5
  • Collagen Alpha-1(VIII) Chain 3 4
  • Collagen, Type VIII, Alpha 1 2 3
  • Endothelial Collagen 3 4
  • C3orf7 3 4
  • Smooth Muscle Cell-Expressed And Macrophage Conditioned Medium-Induced Protein Smag-64 3
  • Cell Proliferation-Inducing Protein 41 3
  • Collagen VIII, Alpha-1 Polypeptide 3
  • Chromosome 3 Open Reading Frame 7 2
  • Smag-64 3

External Ids for COL8A1 Gene

Previous HGNC Symbols for COL8A1 Gene

  • C3orf7

Previous GeneCards Identifiers for COL8A1 Gene

  • GC03P095979
  • GC03M098636
  • GC03P100638
  • GC03P100678
  • GC03P100840
  • GC03P099357
  • GC03P096725

Summaries for COL8A1 Gene

Entrez Gene Summary for COL8A1 Gene

  • 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]

GeneCards Summary for COL8A1 Gene

COL8A1 (Collagen Type VIII Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL8A1 include Corneal Endothelial Dystrophy and Corneal Dystrophy. Among its related pathways are ERK Signaling and Collagen chain trimerization. An important paralog of this gene is COL8A2.

UniProtKB/Swiss-Prot Summary for COL8A1 Gene

  • Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis.
  • Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis.

Gene Wiki entry for COL8A1 Gene

Additional gene information for COL8A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for COL8A1 Gene

Genomics for COL8A1 Gene

GeneHancer (GH) Regulatory Elements for COL8A1 Gene

Promoters and enhancers for COL8A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J099636 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 509.1 +4.8 4792 13.5 EP300 CTCF JUND FOS ZIC2 POLR2A ZBTB26 REST TRIM22 ZNF341 COL8A1 lnc-COL8A1-3 lnc-FILIP1L-10 ENSG00000244464 lnc-FILIP1L-6
GH03J099418 Enhancer 1.1 FANTOM5 Ensembl ENCODE 16.9 -219.2 -219176 1.2 REST TRIM22 TCF12 POLR2A SMC3 MEF2B NBN SMARCA5 ELF1 EBF1 COL8A1 HSALNG0027523 piR-57134-079
GH03J099419 Enhancer 0.9 Ensembl ENCODE 16.9 -220.1 -220134 0.7 TCF12 SMARCA5 BATF ELF1 IRF4 IKZF1 NR2F1 NFATC3 ATF2 JUNB COL8A1 HSALNG0027523 piR-57134-079
GH03J099409 Enhancer 0.9 Ensembl ENCODE 16.9 -226.1 -226099 4.8 BCL11A CBFB ARNT MEF2B BATF FOS JUND EBF1 IKZF1 NR2F1 COL8A1 DCBLD2 piR-57134-079 HSALNG0027523
GH03J099394 Enhancer 0.8 FANTOM5 Ensembl ENCODE 16.9 -243.1 -243120 2.6 JUND FOS CEBPB EZH2 STAT3 BHLHE40 COL8A1 piR-57134-079 piR-38351-313
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around COL8A1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for COL8A1

Top Transcription factor binding sites by QIAGEN in the COL8A1 gene promoter:
  • AREB6
  • E47
  • Evi-1
  • FOXD3
  • p53
  • RSRFC4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for COL8A1 Gene

Genomic Locations for COL8A1 Gene
chr3:99,638,475-99,799,226
(GRCh38/hg38)
Size:
160,752 bases
Orientation:
Plus strand
chr3:99,357,319-99,518,070
(GRCh37/hg19)
Size:
160,752 bases
Orientation:
Plus strand

Genomic View for COL8A1 Gene

Genes around COL8A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL8A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL8A1 Gene

Proteins for COL8A1 Gene

  • Protein details for COL8A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P27658-CO8A1_HUMAN
    Recommended name:
    Collagen alpha-1(VIII) chain
    Protein Accession:
    P27658
    Secondary Accessions:
    • D3DN42
    • Q53XI6
    • Q96D07

    Protein attributes for COL8A1 Gene

    Size:
    744 amino acids
    Molecular mass:
    73364 Da
    Quaternary structure:
    • Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form a tetrahedron stabilized by central interacting C-terminal NC1 trimers.
    Miscellaneous:
    • Four consecutive Gly-Pro-Pro triplets are present at the C-terminus of the triple-helical region. These may provide the high thermal stability of this region.

neXtProt entry for COL8A1 Gene

Post-translational modifications for COL8A1 Gene

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.
  • Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1 domain fragment, vastatin.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COL8A1 Gene

No data available for DME Specific Peptides for COL8A1 Gene

Domains & Families for COL8A1 Gene

Gene Families for COL8A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for COL8A1 Gene

Blocks:
  • Complement C1q protein
  • Collagen triple helix repeat
  • Collagen helix repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for COL8A1 Gene

GenScript: Design optimal peptide antigens:
  • Endothelial collagen (CO8A1_HUMAN)
genes like me logo Genes that share domains with COL8A1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for COL8A1 Gene

Function for COL8A1 Gene

Molecular function for COL8A1 Gene

UniProtKB/Swiss-Prot Function:
Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis.
UniProtKB/Swiss-Prot Function:
Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell proliferation and causes cell apoptosis.
UniProtKB/Swiss-Prot Induction:
Up-regulated during vascular injury, in atherosclerosis and in diabetes.
GENATLAS Biochemistry:
collagen type VIII,alpha 1,short chain,component of Descemet membrane

Phenotypes From GWAS Catalog for COL8A1 Gene

Gene Ontology (GO) - Molecular Function for COL8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent IBA 21873635
GO:0005515 protein binding IPI,IEA 16189514
GO:0030020 extracellular matrix structural constituent conferring tensile strength RCA 20551380
genes like me logo Genes that share ontologies with COL8A1: view
genes like me logo Genes that share phenotypes with COL8A1: view

Animal Models for COL8A1 Gene

MGI Knock Outs for COL8A1:

Animal Model Products

CRISPR Products

Clone Products

Cell Line Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for COL8A1 Gene

Localization for COL8A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL8A1 Gene

Secreted, extracellular space, extracellular matrix, basement membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for COL8A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for COL8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005591 collagen type VIII trimer TAS 2029894
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with COL8A1: view

Pathways & Interactions for COL8A1 Gene

PathCards logo

SuperPathways for COL8A1 Gene

SuperPathway Contained pathways
1 Collagen chain trimerization
.48
.46
2 Integrin Pathway
.67
.67
.56
.56
.50
.38
3 ERK Signaling
.61
.61
.58
.51
.49
4 Phospholipase-C Pathway
.56
.56
5 Degradation of the extracellular matrix
genes like me logo Genes that share pathways with COL8A1: view

Pathways by source for COL8A1 Gene

15 Qiagen pathways for COL8A1 Gene
  • Blood Coagulation Cascade
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling

Gene Ontology (GO) - Biological Process for COL8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0007155 cell adhesion IEA --
GO:0010811 positive regulation of cell-substrate adhesion IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0035987 endodermal cell differentiation IEP 23154389
genes like me logo Genes that share ontologies with COL8A1: view

No data available for SIGNOR curated interactions for COL8A1 Gene

Drugs & Compounds for COL8A1 Gene

No Compound Related Data Available

Transcripts for COL8A1 Gene

mRNA/cDNA for COL8A1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL8A1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
SP1: - -
SP2:
SP3: - - -
SP4: - -
SP5:
SP6: - - - -

Relevant External Links for COL8A1 Gene

GeneLoc Exon Structure for
COL8A1

Expression for COL8A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for COL8A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL8A1 Gene

This gene is overexpressed in Artery - Tibial (x10.1), Artery - Aorta (x9.9), and Artery - Coronary (x8.9).

Protein differential expression in normal tissues from HIPED for COL8A1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (44.9) and Amniocyte (16.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for COL8A1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for COL8A1

SOURCE GeneReport for Unigene cluster for COL8A1 Gene:

Hs.654548

mRNA Expression by UniProt/SwissProt for COL8A1 Gene:

P27658-CO8A1_HUMAN
Tissue specificity: Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane. Specifically expressed in peritoneal fibroblasts and mesothelial cells.

Evidence on tissue expression from TISSUES for COL8A1 Gene

  • Lung(4.3)
  • Bone(3.1)
genes like me logo Genes that share expression patterns with COL8A1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for COL8A1 Gene

Orthologs for COL8A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL8A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL8A1 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia COL8A1 31 30
  • 91.35 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL8A1 31
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL8A1 31 30
  • 89.64 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col8a1 30
  • 88.2 (n)
mouse
(Mus musculus)
Mammalia Col8a1 17 31 30
  • 87.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL8A1 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL8A1 31 30
  • 74.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL8A1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col8a1 30
  • 63.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12569 30
zebrafish
(Danio rerio)
Actinopterygii col8a1a 31
  • 63 (a)
OneToMany
col8a1b 31 30
  • 59.7 (n)
OneToMany
wufb18b08 30
Species where no ortholog for COL8A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL8A1 Gene

ENSEMBL:
Gene Tree for COL8A1 (if available)
TreeFam:
Gene Tree for COL8A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for COL8A1: view image

Paralogs for COL8A1 Gene

(3) SIMAP similar genes for COL8A1 Gene using alignment to 2 proteins:

  • CO8A1_HUMAN
  • C9JTN9_HUMAN
genes like me logo Genes that share paralogs with COL8A1: view

Variants for COL8A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for COL8A1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs13081855 Not Provided: not provided 99,762,695(+) G/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for COL8A1 Gene

Structural Variations from Database of Genomic Variants (DGV) for COL8A1 Gene

Variant ID Type Subtype PubMed ID
esv2658441 CNV deletion 23128226
esv2660038 CNV deletion 23128226
esv2666929 CNV deletion 23128226
esv3597151 CNV gain 21293372
esv3597154 CNV loss 21293372
esv3597155 CNV loss 21293372
esv3597157 CNV loss 21293372
nsv1151786 CNV duplication 26484159
nsv477338 CNV novel sequence insertion 20440878
nsv478220 CNV novel sequence insertion 20440878
nsv508231 CNV deletion 20534489
nsv822193 CNV loss 20364138

Variation tolerance for COL8A1 Gene

Residual Variation Intolerance Score: 10.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for COL8A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL8A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL8A1 Gene

Disorders for COL8A1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for COL8A1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
corneal endothelial dystrophy
  • maumenee corneal dystrophy
corneal dystrophy
refractive error
  • refractive errors
corneal dystrophy, posterior polymorphous, 1
  • ppcd1
keratoconus
  • conical cornea
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for COL8A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with COL8A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for COL8A1 Gene

Publications for COL8A1 Gene

  1. The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3. (PMID: 2029894) Muragaki Y … Ninomiya Y (European journal of biochemistry 1991) 2 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). (PMID: 20385826) Neale BM … Seddon JM (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 41 54
  5. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. (PMID: 21139683) Desronvil T … Wiggs JL (Molecular vision 2010) 3 41 54

Products for COL8A1 Gene

Sources for COL8A1 Gene