OCRL
entrez
4952
canonical
uniprot
Q01968
canonical
ensembl
ENSG00000122126
resolver
ensp
ENSP00000349635
resolver
ensp
ENSP00000360154
resolver
genesymbol
OCRL
resolver
genesymbol_syn
OCRL1
resolver
hgnc
HGNC:8108
resolver
uniprot
A6NKI1
resolver
uniprot
A8KAP2
resolver
uniprot
B7ZLX2
resolver
uniprot
O60800
resolver
uniprot
Q15684
resolver
uniprot
Q15774
resolver
uniprot
Q4VY09
resolver
uniprot
Q4VY10
resolver
uniprot
Q504W7
resolver
uniprot
Q5JQF1
resolver
uniprot
Q5JQF2
resolver
uniprot
Q9UJG5
resolver
uniprot
Q9UMA5
resolver
uniprot_entry
OCRL_HUMAN
resolver
uniprot_entry
Q504W7_HUMAN
resolver
uniprot_sec
A6NKI1
resolver
uniprot_sec
A8KAP2
resolver
uniprot_sec
B7ZLX2
resolver
uniprot_sec
O60800
resolver
uniprot_sec
Q15684
resolver
uniprot_sec
Q15774
resolver
uniprot_sec
Q4VY09
resolver
uniprot_sec
Q4VY10
resolver
uniprot_sec
Q5JQF1
resolver
uniprot_sec
Q5JQF2
resolver
uniprot_sec
Q9UJG5
resolver
uniprot_sec
Q9UMA5
resolver
amino_acid_sequence
MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED
uniprot
proteins
disease_involvement
DISEASE: Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]: X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, intellectual disability, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination. {ECO:0000269|PubMed:10767176, ECO:0000269|PubMed:10923037, ECO:0000269|PubMed:19168822, ECO:0000269|PubMed:20133602, ECO:0000269|PubMed:21031565, ECO:0000269|PubMed:21233288, ECO:0000269|PubMed:9199559, ECO:0000269|PubMed:9632163, ECO:0000269|PubMed:9682219, ECO:0000269|PubMed:9788721}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Dent disease 2 (DENT2) [MIM:300555]: An X-linked renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. {ECO:0000269|PubMed:15627218, ECO:0000269|PubMed:17384968, ECO:0000269|PubMed:21031565}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.3.36
uniprot
proteins
ec_number
3.1.3.56
uniprot
proteins
ec_number
3.1.3.86
uniprot
proteins
function
FUNCTION: Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:10764818, PubMed:15474001, PubMed:7761412, PubMed:9430698). Also, is able to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:15474001, PubMed:40969890, PubMed:7761412). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788). {ECO:0000269|PubMed:10764818, ECO:0000269|PubMed:15474001, ECO:0000269|PubMed:21971085, ECO:0000269|PubMed:22072788, ECO:0000269|PubMed:22228094, ECO:0000269|PubMed:22543976, ECO:0000269|PubMed:25869668, ECO:0000269|PubMed:40969890, ECO:0000269|PubMed:7761412, ECO:0000269|PubMed:9430698}.
uniprot
proteins
mass_dalton
104205
uniprot
proteins
mutagenesis
MUTAGEN 422; /note="D->A: Does not affect interaction with RAB8A."; /evidence="ECO:0000269|PubMed:22543976"; MUTAGEN 499; /note="D->A: Does not affect interaction with RAB8A."; /evidence="ECO:0000269|PubMed:22543976"; MUTAGEN 668; /note="F->V: Does not interact with RAB8A. Does not localize to cilia."; /evidence="ECO:0000269|PubMed:22543976
uniprot
proteins
protein_family
4
uniprot
proteins
protein_family
5-trisphosphate 5-phosphatase type II family
uniprot
proteins
protein_family
Inositol 1
uniprot
proteins
pubmed
10764818
uniprot
proteins
pubmed
10767176
uniprot
proteins
pubmed
10923037
uniprot
proteins
pubmed
1321346
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15474001
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15627218
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17384968
uniprot
proteins
pubmed
17765681
uniprot
proteins
pubmed
19168822
uniprot
proteins
pubmed
19536138
uniprot
proteins
pubmed
20133602
uniprot
proteins
pubmed
21031565
uniprot
proteins
pubmed
21233288
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21378754
uniprot
proteins
pubmed
21666675
uniprot
proteins
pubmed
21971085
uniprot
proteins
pubmed
22072788
uniprot
proteins
pubmed
22228094
uniprot
proteins
pubmed
22381590
uniprot
proteins
pubmed
22543976
uniprot
proteins
pubmed
25869668
uniprot
proteins
pubmed
30905672
uniprot
proteins
pubmed
40969890
uniprot
proteins
pubmed
7761412
uniprot
proteins
pubmed
8504307
uniprot
proteins
pubmed
9048911
uniprot
proteins
pubmed
9199559
uniprot
proteins
pubmed
9430698
uniprot
proteins
pubmed
9632163
uniprot
proteins
pubmed
9682219
uniprot
proteins
pubmed
9788721
uniprot
proteins
sequence_length
901
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:D3ZGS3}. Early endosome membrane {ECO:0000269|PubMed:21971085, ECO:0000269|PubMed:25869668}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:25869668}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:22543976}. Cell projection, cilium {ECO:0000269|PubMed:22543976}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:D3ZGS3}. Endosome {ECO:0000269|PubMed:21971085, ECO:0000269|PubMed:25869668}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:D3ZGS3}. Lysosome {ECO:0000269|PubMed:9430698}. Note=Also found on macropinosomes (PubMed:25869668). Colocalized with APPL1 on phagosomes (PubMed:22072788). {ECO:0000269|PubMed:22072788, ECO:0000269|PubMed:25869668}.
uniprot
proteins