Bos taurus Gene: COL1A1
|Last Modified||2013-04-25 [Report errors or provide feedback]|
|Gene Name||Collagen alpha-1(I) chain|
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000108821:
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
|Genomic Location||Chromosome 19: 37088246-37104998|
|Number of Interactions||
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 36 interaction(s) predicted by orthology.
|Pathway Predictions based on Human Orthology Data|
|UniProt Splice Variant|
|EMBL||AJ312109 AJ312110 AJ312111 AJ312112 BC105184|
|RNA Seq Atlas||282187|
|Tag Count based mRNA-Abundances across 87 different Tissues (TPM).
Based on Data from Bovine Gene Atlas
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