This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Function:
Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly-sequences in collagens, especially types IV and V.
Subcellular Location:
Endoplasmic reticulum. Golgi apparatus.
Tissue Specificity:
Expressed in heart, placenta, lung, liver, skeletal muscle and kidney. Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells.
Similarity:
Belongs to the leprecan family.
Contains 1 Fe2OG dioxygenase domain.
Contains 4 TPR repeats.
SWISS:
Q8IVL5
Gene ID:
55214
Database links:
Entrez Gene: 511799 Cow
Entrez Gene: 478674 Dog
Entrez Gene: 55214 Human
Entrez Gene: 210530 Mouse
Entrez Gene: 100520219 Pig
Entrez Gene: 217616 Rat
Omim: 610341 Human
SwissProt: Q8IVL5 Human
SwissProt: Q8CG71 Mouse
SwissProt: Q4KLM6 Rat
Unigene: 374191 Human
Unigene: 483044 Mouse
Unigene: 213595 Rat
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