P3H2
entrez
55214
canonical
uniprot
Q8IVL5
canonical
ensembl
ENSG00000090530
resolver
ensp
ENSP00000316881
resolver
ensp
ENSP00000408947
resolver
genesymbol
P3H2
resolver
genesymbol_syn
LEPREL1
resolver
genesymbol_syn
MLAT4
resolver
hgnc
HGNC:19317
resolver
uniprot
B3KPK0
resolver
uniprot
B3KWI9
resolver
uniprot
D3DNV8
resolver
uniprot
Q9NVI2
resolver
uniprot_entry
P3H2_HUMAN
resolver
uniprot_sec
B3KPK0
resolver
uniprot_sec
B3KWI9
resolver
uniprot_sec
D3DNV8
resolver
uniprot_sec
Q9NVI2
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by pyridine 2,4-dicarboxylate, an analog of 2-oxoglutarate. {ECO:0000269|PubMed:18487197}.
uniprot
proteins
amino_acid_sequence
MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPFDLLYASGAAAYYSGDYERAVRDLEAALRSHRRLREIRTRCARHCAARHPLPPPPPGEGPGAELPLFRSLLGRARCYRSCETQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIKLNQLEKAVEAAHTFFVANPEHMEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREYFVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQVLVCQHECVRELATRPGRLSPIENFLPLHYDYLQFAYYRVGEYVKALECAKAYLLCHPDDEDVLDNVDYYESLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWIRYGGRQDENRVPSGVNVEGAEVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELHSVASGIMLVGDGYRGKTSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMVCRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGRMISFSSGGENPHGVKAVTKGKRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKDEL
uniprot
proteins
disease_involvement
DISEASE: Myopia, 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.7
uniprot
proteins
function
FUNCTION: Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 (PubMed:18487197). Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline (PubMed:18487197). Has no activity on substrates that lack 4-hydroxyproline in the third position (PubMed:18487197). {ECO:0000250|UniProtKB:Q8CG71, ECO:0000269|PubMed:18487197}.
uniprot
proteins
mass_dalton
80984
uniprot
proteins
protein_family
Leprecan family
uniprot
proteins
pubmed
10449603
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15063763
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18487197
uniprot
proteins
pubmed
21885030
uniprot
proteins
sequence_length
708
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:15063763}. Sarcoplasmic reticulum {ECO:0000305|PubMed:15063763}. Golgi apparatus {ECO:0000269|PubMed:15063763}.
uniprot
proteins