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COL8A1 (collagen type VIII alpha 1 chain)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1295
Gene nameGene Name - the full gene name approved by the HGNC.
Collagen type VIII alpha 1 chain
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
COL8A1
SynonymsGene synonyms aliases
C3orf7
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q12.1
SummarySummary of gene provided in NCBI Entrez 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 heterotrime
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT519131 hsa-miR-8485 HITS-CLIP 21572407
MIRT510127 hsa-miR-4789-3p HITS-CLIP 21572407
MIRT510125 hsa-miR-1295b-3p HITS-CLIP 21572407
MIRT510126 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT510124 hsa-miR-190a-3p HITS-CLIP 21572407
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183
GO:0005576 Component Extracellular region TAS
GO:0005591 Component Collagen type VIII trimer TAS 2029894
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P27658
Protein name Collagen alpha-1(VIII) chain (Endothelial collagen) [Cleaved into: Vastatin]
Protein function Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascul
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen
157 214
Collagen triple helix repeat (20 copies)
Repeat
PF01391 Collagen
207 271
Collagen triple helix repeat (20 copies)
Repeat
PF00386 C1q
617 741
C1q domain
Domain
Sequence
MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQMPPQIPQYQPLGQQVPH
MPLAKDGLAMGKEMPHLQYGKEYPHLPQYMKEIQPAPRMGKEAVPKKGKEIPLASLRGEQ
GPRGEPGPRGPPGPPGLPGHGIPGIKGKPGPQGYPGVGKPGMPGMPGKPGAMGMPGAKGE
IGQKGEIGPMGIPGPQGPPGPHGLPG
IGKPGGPGLPGQPGPKGDRGPKGLPGPQGLRGPK
GDKGFGMPGAPGVKGPPGMHGPPGPVGLPGV
GKPGVTGFPGPQGPLGKPGAPGEPGPQGP
IGVPGVQGPPGIPGIGKPGQDGIPGQPGFPGGKGEQGLPGLPGPPGLPGIGKPGFPGPKG
DRGMGGVPGALGPRGEKGPIGAPGIGGPPGEPGLPGIPGPMGPPGAIGFPGPKGEGGIVG
PQGPPGPKGEPGLQGFPGKPGFLGEVGPPGMRGLPGPIGPKGEAGQKGVPGLPGVPGLLG
PKGEPGIPGDQGLQGPPGIPGIGGPSGPIGPPGIPGPKGEPGLPGPPGFPGIGKPGVAGL
HGPPGKPGALGPQGQPGLPGPPGPPGPPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHA
YGAKKGKNGGPAYEMPAFTAELTAPFPPVGAPVKFNKLLYNGRQNYNPQTGIFTCEVPGV
YYFAYHVHCKGGNVWVALFKNNEPVMYTYDEYKKGFLDQASGSAVLLLRPGDRVFLQMPS
EQAAGLYAGQYVHSSFSGYLL
YPM
Sequence length 744
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Collagen chain trimerization
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 29059683
Age-related macular degeneration Age related macular degeneration rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475 21665990, 23455636, 26691988
Unknown
Disease name Disease term dbSNP ID References
Exudative macular degeneration Exudative age-related macular degeneration, exudative macular degeneration 26691988
Geographic atrophy Geographic Atrophy 26691988
Heart failure Heart Failure, Diastolic rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 29556499

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