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MGP005396

UniProt Annotations

Entry Information
Gene Nameprolyl 3-hydroxylase 2
Protein EntryP3H2_HUMAN
UniProt IDQ8IVL5
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8IVL5-1; Sequence=Displayed; Name=2; IsoId=Q8IVL5-2; Sequence=VSP_053814; Note=No experimental confirmation available.;
Catalytic ActivityL-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO(2).
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000250};
CofactorName=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence={ECO:0000250};
DiseaseMyopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292]: A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. {ECO:0000269|PubMed:21885030}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionShows prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types II, IV and V. {ECO:0000250}.
Sequence CautionSequence=BAA91769.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the leprecan family. {ECO:0000305}.
SimilarityContains 1 Fe2OG dioxygenase domain. {ECO:0000255|PROSITE-ProRule:PRU00805}.
SimilarityContains 4 TPR repeats. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum {ECO:0000255|PROSITE- ProRule:PRU10138, ECO:0000269|PubMed:15063763}. Golgi apparatus {ECO:0000269|PubMed:15063763}.
Tissue SpecificityExpressed 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. {ECO:0000269|PubMed:15063763}.
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