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
  • Collagen, Type VIII, Alpha 1 2 3 5
  • 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) is a Protein Coding gene. Diseases associated with COL8A1 include Fuchs' Endothelial Dystrophy and Macular Degeneration, Age-Related, 1. Among its related pathways are ERK Signaling and Phospholipase-C Pathway. An important paralog of this gene is ADIPOQ.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around COL8A1 on UCSC Golden Path with GeneCards custom track

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

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

Antibody Products

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.
genes like me logo Genes that share phenotypes with COL8A1: view

Animal Models for COL8A1 Gene

MGI Knock Outs for COL8A1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for COL8A1 Gene COMPARTMENTS Subcellular localization image for COL8A1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
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:0031012 colocalizes_with extracellular matrix IDA 20551380
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:0022617 extracellular matrix disassembly 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

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 (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



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

Primer Products

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
cow
(Bos Taurus)
Mammalia COL8A1 35
  • 89.64 (n)
  • 93.12 (a)
COL8A1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL8A1 35
  • 91.35 (n)
  • 93.95 (a)
COL8A1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col8a1 35
  • 87.66 (n)
  • 92.73 (a)
Col8a1 16
Col8a1 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COL8A1 35
  • 99.6 (n)
  • 99.6 (a)
COL8A1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col8a1 35
  • 88.2 (n)
  • 94.08 (a)
oppossum
(Monodelphis domestica)
Mammalia COL8A1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL8A1 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL8A1 35
  • 74.77 (n)
  • 79.76 (a)
COL8A1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL8A1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col8a1 35
  • 63.98 (n)
  • 65.91 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12569 35
zebrafish
(Danio rerio)
Actinopterygii col8a1b 35
  • 59.7 (n)
  • 60.91 (a)
wufb18b08 35
col8a1a 36
  • 63 (a)
OneToMany
col8a1b 36
  • 64 (a)
OneToMany
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

(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
rs704570 -- 99,758,298(-) TCCCT(C/T)TCAAG intron-variant
rs704571 -- 99,763,102(+) TTATG(C/T)AACTT intron-variant
rs704572 -- 99,763,470(+) TAACA(C/G)TTAAT intron-variant
rs704573 -- 99,764,427(+) TATTT(A/T)TGTGC intron-variant
rs704574 -- 99,764,929(+) ATCCC(A/G)TAATT 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

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for COL8A1 Gene

Disorders for COL8A1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for COL8A1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fuchs' endothelial dystrophy
  • fced
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
- 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 23 67
  2. 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
  3. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3
  4. Biomarkers for Refractory Lupus Nephritis: A Microarray Study of Kidney Tissue. (PMID: 26110394) Benjachat T. … Townamchai N. (Int J Mol Sci 2015) 3
  5. Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration. (PMID: 24498017) Seddon J.M. … Rosner B. (PLoS ONE 2014) 3

Products for COL8A1 Gene

Sources for COL8A1 Gene

Content