P3H1
entrez
64175
canonical
uniprot
Q32P28
canonical
ensembl
ENSG00000117385
resolver
ensp
ENSP00000236040
resolver
ensp
ENSP00000296388
resolver
ensp
ENSP00000380245
resolver
ensp
ENSP00000577960
resolver
genesymbol
P3H1
resolver
genesymbol_syn
GROS1
resolver
genesymbol_syn
LEPRE1
resolver
hgnc
HGNC:19316
resolver
uniprot
Q7KZR4
resolver
uniprot
Q96BR8
resolver
uniprot
Q96SK8
resolver
uniprot
Q96SL5
resolver
uniprot
Q96SN3
resolver
uniprot
Q9H6K3
resolver
uniprot
Q9HC86
resolver
uniprot
Q9HC87
resolver
uniprot_entry
P3H1_HUMAN
resolver
uniprot_sec
Q7KZR4
resolver
uniprot_sec
Q96BR8
resolver
uniprot_sec
Q96SK8
resolver
uniprot_sec
Q96SL5
resolver
uniprot_sec
Q96SN3
resolver
uniprot_sec
Q9H6K3
resolver
uniprot_sec
Q9HC86
resolver
uniprot_sec
Q9HC87
resolver
amino_acid_sequence
MAVRALKLLTTLLAVVAAASQAEVESEAGWGMVTPDLLFAEGTAAYARGDWPGVVLSMERALRSRAALRALRLRCRTQCAADFPWELDPDWSPSPAQASGAAALRDLSFFGGLLRRAACLRRCLGPPAAHSLSEEMELEFRKRSPYNYLQVAYFKINKLEKAVAAAHTFFVGNPEHMEMQQNLDYYQTMSGVKEADFKDLETQPHMQEFRLGVRLYSEEQPQEAVPHLEAALQEYFVAYEECRALCEGPYDYDGYNYLEYNADLFQAITDHYIQVLNCKQNCVTELASHPSREKPFEDFLPSHYNYLQFAYYNIGNYTQAVECAKTYLLFFPNDEVMNQNLAYYAAMLGEEHTRSIGPRESAKEYRQRSLLEKELLFFAYDVFGIPFVDPDSWTPEEVIPKRLQEKQKSERETAVRISQEIGNLMKEIETLVEEKTKESLDVSRLTREGGPLLYEGISLTMNSKLLNGSQRVVMDGVISDHECQELQRLTNVAATSGDGYRGQTSPHTPNEKFYGVTVFKALKLGQEGKVPLQSAHLYYNVTEKVRRIMESYFRLDTPLYFSYSHLVCRTAIEEVQAERKDDSHPVHVDNCILNAETLVCVKEPPAYTFRDYSAILYLNGDFDGGNFYFTELDAKTVTAEVQPQCGRAVGFSSGTENPHGVKAVTRGQRCAIALWFTLDPRHSERDRVQADDLVKMLFSPEEMDLSQEQPLDAQQGPPEPAQESLSGSESKPKDEL
uniprot
proteins
disease_involvement
DISEASE: Osteogenesis imperfecta 8 (OI8) [MIM:610915]: A form of osteogenesis imperfecta, a disorder of bone formation 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, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest. {ECO:0000269|PubMed:17277775, ECO:0000269|PubMed:19088120, ECO:0000269|PubMed:26634552}. Note=The disease is caused by variants 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}.
uniprot
proteins
ec_number
1.14.11.7
uniprot
proteins
function
FUNCTION: Has prolyl 3-hydroxylase activity and catalyzes the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in pro-collagen chains, a critical step for the formation of mature collagen trimers (PubMed:39245686). May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts. {ECO:0000269|PubMed:10951563, ECO:0000269|PubMed:39245686}.
uniprot
proteins
mass_dalton
83394
uniprot
proteins
mutagenesis
MUTAGEN 76; /note="R->A,D: Decreased interaction with CRTAP."; /evidence="ECO:0000269|PubMed:39245686"; MUTAGEN 106; /note="D->A,R: Decreased interaction with CRTAP."; /evidence="ECO:0000269|PubMed:39245686"; MUTAGEN 121; /note="R->A,D: Decreased interaction with CRTAP."; /evidence="ECO:0000269|PubMed:39245686"; MUTAGEN 263; /note="D->A,K: Decreased interaction with CRTAP."; /evidence="ECO:0000269|PubMed:39245686"; MUTAGEN 587; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:39245686"; MUTAGEN 589; /note="D->A: Severely decreased catalytic activity."; /evidence="ECO:0000269|PubMed:39245686"; MUTAGEN 659; /note="H->A: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:39245686"; MUTAGEN 669; /note="R->H: Loss of catalytic activity."; /evidence="ECO:0000269|PubMed:39245686
uniprot
proteins
post_translational_modification
PTM: O-glycosylated; chondroitin sulfate. {ECO:0000250|UniProtKB:Q9R1J8}.
uniprot
proteins
protein_family
Leprecan family
uniprot
proteins
pubmed
10951563
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
17277775
uniprot
proteins
pubmed
19088120
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26634552
uniprot
proteins
pubmed
39245686
uniprot
proteins
sequence_length
736
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum {ECO:0000269|PubMed:19088120}.; SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:Q9R1J8}. Note=Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG). {ECO:0000250|UniProtKB:Q9R1J8}.
uniprot
proteins