Free for academic non-profit institutions. Other users need a Commercial license

Aliases for COL8A1 Gene

Aliases for COL8A1 Gene

  • 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
  • Collagen Alpha-1(VIII) Chain 3
  • Smag-64 3

External Ids for COL8A1 Gene

Previous Symbols for COL8A1 Gene

  • C3orf7

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) is a Protein Coding gene. Diseases associated with COL8A1 include fuchs endothelial dystrophy. Among its related pathways are ERK Signaling and ERK Signaling. An important paralog of this gene is OTOL1.

UniProtKB/Swiss-Prot for COL8A1 Gene

  • Macromolecular component of the subendothelium. Major component of the Descemets 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL8A1 Gene

Genomics for COL8A1 Gene

Genomic Location for COL8A1 Gene

Start:
99,638,475 bp from pter
End:
99,799,226 bp from pter
Size:
160,752 bases
Orientation:
Plus strand

Genomic View for COL8A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL8A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL8A1 Gene

Regulatory Elements 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 tetrhedron 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

Proteomics data for COL8A1 Gene at MOPED

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for COL8A1 Gene

Domains for COL8A1 Gene

Gene Families for COL8A1 Gene

HGNC:

UniProtKB/Swiss-Prot:

CO8A1_HUMAN
Domain:
  • Contains 1 C1q domain.:
    • P27658
genes like me logo Genes that share domains with COL8A1: view

Function for COL8A1 Gene

Molecular function for COL8A1 Gene

GENATLAS Biochemistry: collagen type VIII,alpha 1,short chain,component of Descemet membrane
UniProtKB/Swiss-Prot Function: Macromolecular component of the subendothelium. Major component of the Descemets 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.

Gene Ontology (GO) - Molecular Function for COL8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with COL8A1: view

Phenotypes for COL8A1 Gene

MGI mutant phenotypes for COL8A1:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with COL8A1: view

Animal Models for COL8A1 Gene

MGI Knock Outs for COL8A1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for COL8A1 Gene COMPARTMENTS Subcellular localization image for COL8A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytosol 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005591 collagen type VIII trimer TAS 2029894
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with COL8A1: view

Pathways for COL8A1 Gene

genes like me logo Genes that share pathways with COL8A1: view

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:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with COL8A1: view

Transcripts for COL8A1 Gene

Unigene Clusters for COL8A1 Gene

Collagen, type VIII, alpha 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
COL8A1

Expression for COL8A1 Gene

mRNA expression in normal human tissues 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 (10.1), Artery - Aorta (9.9), and Artery - Coronary (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL8A1 Gene

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 Descemets membrane. Specifically expressed in peritoneal fibroblasts and mesothelial cells.
genes like me logo Genes that share expressions with COL8A1: view

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 36
  • 99.6 (n)
  • 99.6 (a)
COL8A1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL8A1 36
  • 89.64 (n)
  • 93.12 (a)
COL8A1 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL8A1 36
  • 91.35 (n)
  • 93.95 (a)
COL8A1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col8a1 36
  • 87.66 (n)
  • 92.73 (a)
Col8a1 16
Col8a1 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL8A1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL8A1 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col8a1 36
  • 88.2 (n)
  • 94.08 (a)
chicken
(Gallus gallus)
Aves COL8A1 36
  • 74.77 (n)
  • 79.76 (a)
COL8A1 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL8A1 37
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.12569 36
tropical clawed frog
(Silurana tropicalis)
Amphibia col8a1 36
  • 63.98 (n)
  • 65.91 (a)
zebrafish
(Danio rerio)
Actinopterygii col8a1a 37
  • 63 (a)
OneToMany
col8a1b 36
  • 59.7 (n)
  • 60.91 (a)
col8a1b 37
  • 64 (a)
OneToMany
wufb18b08 36
Species with no ortholog for COL8A1:
  • 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)

Paralogs for COL8A1 Gene

Selected SIMAP similar genes for COL8A1 Gene using alignment to 2 proteins:

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

Variants for COL8A1 Gene

Sequence variations from dbSNP and Humsavar for COL8A1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs486688 -- 99,675,963(-) TTTTA(A/G)GTTCG intron-variant
rs495988 -- 99,693,942(-) aaaag(C/T)tacag intron-variant
rs497868 -- 99,731,343(+) aggaa(C/G)agcat intron-variant
rs498411 -- 99,717,991(-) TGGAC(A/G)TTTGT intron-variant
rs503668 -- 99,691,703(-) TTTTT(A/T)AAAAA intron-variant

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
nsv877217 CNV Loss 21882294
nsv508231 CNV Loss 20534489
esv2666929 CNV Deletion 23128226
nsv822193 CNV Loss 20364138

Relevant External Links for COL8A1 Gene

HapMap Linkage Disequilibrium report
COL8A1

Disorders for COL8A1 Gene

(1) University of Copenhagen DISEASES for COL8A1 Gene

(2) Novoseek inferred disease relationships for COL8A1 Gene

Disease -log(P) Hits PubMed IDs
corneal dystrophy 83.8 2
tumors 0 1

Relevant External Links for COL8A1

Genetic Association Database (GAD)
COL8A1
Human Genome Epidemiology (HuGE) Navigator
COL8A1
genes like me logo Genes that share disorders with COL8A1: view

No data available for UniProtKB/Swiss-Prot 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. (Eur. J. Biochem. 1991) 2 3 4 23
  2. Human mast cells produce type VIII collagen in vivo. (PMID: 7734329) Ruger B. … Neale T.J. (Int. J. Exp. Pathol. 1994) 4 23
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. (PMID: 16936088) Aldave A.J. … Yellore V.S. (Invest. Ophthalmol. Vis. Sci. 2006) 3 23
  5. 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 S.D. … Anand S. (Diabetes Care 2010) 3 49

Products for COL8A1 Gene

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Extracellular Matrix & Adhesion Molecules in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate COL8A1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for COL8A1
    • Block miRNA regulation of COL8A1 using miScript Target Protectors

    Sources for COL8A1 Gene

    Back to Top

    Content