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MGP005754

UniProt Annotations

Entry Information

Gene Name	prolyl 3-hydroxylase 1
Protein Entry	P3H1_HUMAN
UniProt ID	Q32P28
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=GROS1-L, LEPREa, P3H1a; IsoId=Q32P28-1; Sequence=Displayed; Name=2; Synonyms=GROS1-S; IsoId=Q32P28-2; Sequence=VSP_019346, VSP_019347; Name=3; Synonyms=LEPREc; IsoId=Q32P28-3; Sequence=VSP_019348; Note=No experimental confirmation available.; Name=4; Synonyms=LEPREb, P3H1b; IsoId=Q32P28-4; Sequence=VSP_054864;
Catalytic Activity	L-proline-[procollagen] + 2-oxoglutarate + O(2) = trans-3-hydroxy-L-proline-[procollagen] + succinate + CO(2).
Cofactor	Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000250};
Cofactor	Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence={ECO:0000250};
Disease	Osteogenesis imperfecta 8 (OI8) [MIM:610915]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel- shaped chest. {ECO:0000269\|PubMed:17277775, ECO:0000269\|PubMed:19088120}. Note=The disease is caused by mutations affecting the gene represented in this entry. A splice site mutation leading to the absence of isoform 1 has been reported in 2 OI8 patients. Isoform 1 is the only form predicted to be located in the endoplasmic reticulum, which the appropriate location for the catalysis of collagen hydroxylation. These patients show indeed severely reduced COL1A1 hydroxylation (PubMed:19088120). {ECO:0000269\|PubMed:19088120}.
Function	Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). 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. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. {ECO:0000269\|PubMed:10951563}.
Ptm	O-glycosylated; chondroitin sulfate. {ECO:0000250}.
Sequence Caution	Sequence=AAH15309.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15256.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Similarity	Belongs to the leprecan family. {ECO:0000305}.
Similarity	Contains 1 Fe2OG dioxygenase domain. {ECO:0000255\|PROSITE-ProRule:PRU00805}.
Similarity	Contains 4 TPR repeats. {ECO:0000305}.
Subcellular Location	Isoform 1: Endoplasmic reticulum.
Subcellular Location	Secreted, extracellular space, extracellular matrix {ECO:0000250}. Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). {ECO:0000269\|PubMed:19088120}.
Web Resource	Name=Osteogenesis imperfecta variant database; Note=Prolyl 3-hydroxylase 1 (LEPRE1); URL="http://oi.gene.le.ac.uk/home.php?select_db=LEPRE1";