COL8A1 (collagen type VIII alpha 1 chain)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 1295 |
| Gene name | Collagen type VIII alpha 1 chain |
| Gene symbol | COL8A1 |
| Synonyms (NCBI Gene) |
C3orf7
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| Chromosome | 3 |
| Chromosome location | 3q12.1 |
| Summary | 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 |
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miRNA
miRNA information provided by mirtarbase database.
312
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Tissue specificity | 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 folli | ||||||||||||||||||||
| Sequence |
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| Sequence length | 744 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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