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Aliases for COL8A1 Gene

Aliases for COL8A1 Gene

  • Collagen Type VIII Alpha 1 Chain 2 3 5
  • 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 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 Refractive Error and Macular Degeneration, Age-Related, 1. Among its related pathways are Collagen biosynthesis and modifying enzymes and Phospholipase-C Pathway. An important paralog of this gene is COL8A2.

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

Regulatory Elements for COL8A1 Gene

Enhancers for COL8A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F099418 1 FANTOM5 ENCODE 16.9 -219.2 -219177 1.2 TBP PKNOX1 EBF1 EP300 RAD51 CBX5 POLR2A EED IKZF1 NBN COL8A1 GC03M099417 LOC105374004
GH03F099394 0.9 FANTOM5 ENCODE 16.9 -243.1 -243120 2.6 CTCF BHLHE40 CEBPB TRIM22 RAD21 JUND SMC3 FOS COL8A1 GC03M099417 LOC105374004
GH03F099409 0.9 Ensembl ENCODE 16.9 -227.4 -227410 2.2 PKNOX1 MTA2 ZBED1 JUN BHLHE40 CBFB EBF1 JUND EED IKZF1 COL8A1 DCBLD2 GC03M099417 LOC105374004
GH03F099636 1.2 Ensembl ENCODE 9.2 +4.5 4454 12.8 KLF17 BMI1 FEZF1 GLI4 ZBTB40 RAD21 ZNF366 SCRT2 FOS EGR2 COL8A1 GC03M099657
GH03F099419 0.6 ENCODE 16.9 -220.1 -220121 0.7 TBP PKNOX1 JUNB EBF1 RAD51 IKZF1 STAT3 ETV6 CREM COL8A1 GC03M099417 LOC105374004
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL8A1 on UCSC Golden Path with GeneCards custom track

Promoters for COL8A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001850137 425 3801 KLF17 FEZF1 GLI4 ZNF366 SCRT2 FOS EGR2 ZNF263 SP3 CEBPB

Genomic Location for COL8A1 Gene

Chromosome:
3
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

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 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

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

Suggested Antigen Peptide Sequences for COL8A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P27658

UniProtKB/Swiss-Prot:

CO8A1_HUMAN :
  • Contains 1 C1q domain.
Domain:
  • Contains 1 C1q domain.
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 16189514
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

Inhibitory RNA Products

Cell Line Products

Flow Cytometry 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 5
plasma membrane 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for COL8A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005581 collagen trimer IEA --
GO:0005591 collagen type VIII trimer TAS 2029894
GO:0005604 basement membrane IEA --
genes like me logo Genes that share ontologies with COL8A1: view

Pathways & Interactions 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:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL8A1: view

No data available for SIGNOR curated interactions for COL8A1 Gene

Transcripts for COL8A1 Gene

Unigene Clusters for COL8A1 Gene

Collagen, type VIII, alpha 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for COL8A1 Gene



NURSA nuclear receptor signaling pathways regulating expression of COL8A1 Gene:

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

No data available for Protein tissue co-expression partners 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 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia COL8A1 34 35
  • 91.35 (n)
oppossum
(Monodelphis domestica)
Mammalia COL8A1 35
  • 91 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL8A1 34 35
  • 89.64 (n)
rat
(Rattus norvegicus)
Mammalia Col8a1 34
  • 88.2 (n)
mouse
(Mus musculus)
Mammalia Col8a1 34 16 35
  • 87.66 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia COL8A1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL8A1 34 35
  • 74.77 (n)
lizard
(Anolis carolinensis)
Reptilia COL8A1 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col8a1 34
  • 63.98 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12569 34
zebrafish
(Danio rerio)
Actinopterygii col8a1a 35
  • 63 (a)
OneToMany
col8a1b 34 35
  • 59.7 (n)
wufb18b08 34
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)

Paralogs for COL8A1 Gene

(3) 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
rs13081855 untested 99,762,695(+) TGTAT(G/T)TCAAG intron-variant
rs1007723 -- 99,792,549(+) GAAAC(A/G)GTGAC intron-variant
rs1038294 -- 99,784,884(-) ATTAA(C/T)GACTC intron-variant
rs1038295 -- 99,772,653(+) ATACA(A/C)GGCAG intron-variant
rs1053955 -- 99,790,886(+) GGCCT(C/T)GCCAT reference, synonymous-codon

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

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

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)

Relevant External Links 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

(3) MalaCards diseases for COL8A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
refractive error
  • refractive errors
macular degeneration, age-related, 1
  • macular degeneration, age-related, reduced risk of
fuchs' endothelial dystrophy
  • fced
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for COL8A1

Genetic Association Database (GAD)
COL8A1
Human Genome Epidemiology (HuGE) Navigator
COL8A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL8A1
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. (Eur. J. Biochem. 1991) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). (PMID: 20385826) Neale B.M. … Seddon J.M. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 46 64
  4. 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 46 64
  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 J.L. (Mol. Vis. 2010) 3 46 64

Products for COL8A1 Gene

Sources for COL8A1 Gene

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