full name
OCRL, inositol polyphosphate-5-phosphatase

synonyms
INPP5F, LOCR, NPHL2, OCRL-1, OCRL1, OCRL, ENSG00000122126

HGNC
HGNC:8108

Entrez Gene
Gene:4952

ENSEMBL
ENSG00000122126

location
chr: X
start: 128673826
stop: 128726533
strand: +

OMIM
OMIM:300535: OCRL (X-linked recessive inheritance)
OMIM:300555: Dent disease 2
OMIM:309000: Lowe syndrome

transcripts
NM_000276.3
NM_001587.3

pathways
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian) [NCBI:545332] [BIOCYC:HUMAN_PWY-6362] [PUBMED:1371119] [PUBMED:10390371] [PUBMED:9334307] [PUBMED:2584198] [PUBMED:15531582] [PUBMED:10683435] [PUBMED:9838040] [PUBMED:1849645] [PUBMED:3426614] [PUBMED:3010126] [PUBMED:1684044] [PUBMED:8435066] [PUBMED:9114007] [PUBMED:7814377] [PUBMED:7829485] [PUBMED:12223481]
3-phosphoinositide degradation [NCBI:545349] [BIOCYC:HUMAN_PWY-6368]
Clathrin derived vesicle budding [NCBI:1269881] [REACTOME:R-HSA-421837]
Clathrin-mediated endocytosis [NCBI:1427858] [REACTOME:R-HSA-8856828] [PUBMED:16516836] [PUBMED:15339664] [PUBMED:19754444] [PUBMED:8552632] [PUBMED:21779028] [PUBMED:12353027] [PUBMED:23891661] [PUBMED:21613550] [PUBMED:20059951] [PUBMED:21447041] [PUBMED:17620409] [PUBMED:16903783] [PUBMED:21445324] [PUBMED:19696798] [PUBMED:26246598] [PUBMED:25085911] [PUBMED:24186068] [PUBMED:26829388] [PUBMED:27092250] [PUBMED:24581490] [PUBMED:26042225] [PUBMED:23823722] [PUBMED:24789820] [PUBMED:9736607] [PUBMED:23637288] [PUBMED:22233676] [PUBMED:19458185] [PUBMED:26403691] [PUBMED:19296720] [PUBMED:15703209] [PUBMED:20428113] [PUBMED:8953040] [PUBMED:1177317] [PUBMED:9092476] [PUBMED:26872272] [PUBMED:19092055]
D-myo-inositol (1,3,4)-trisphosphate biosynthesis [NCBI:545328] [BIOCYC:HUMAN_PWY-6364] [PUBMED:3010126] [PUBMED:1659392] [PUBMED:6285891] [PUBMED:6095097] [PUBMED:7637787] [PUBMED:9038348]
D-myo-inositol (1,4,5)-trisphosphate degradation [NCBI:545327] [BIOCYC:HUMAN_PWY-6363] [PUBMED:6285891] [PUBMED:6095097]
Golgi Associated Vesicle Biogenesis [NCBI:1269882] [REACTOME:R-HSA-432722]
Inositol phosphate metabolism [NCBI:82987] [KEGG:hsa00562] [NCBI:1269988] [REACTOME:R-HSA-1483249] [PUBMED:17943301] [PUBMED:18310071] [PUBMED:20414202] [PUBMED:11331907] [PUBMED:20359876] [PUBMED:14993306] [PUBMED:16781889]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
PI Metabolism [NCBI:1270073] [REACTOME:R-HSA-1483255] [PUBMED:17035995] [PUBMED:18216768] [PUBMED:17330069] [PUBMED:15170460] [PUBMED:16828287] [PUBMED:18726176] [PUBMED:20861159] [PUBMED:19196647] [PUBMED:20043944] [PUBMED:20192774] [PUBMED:18784754] [PUBMED:20559318] [PUBMED:18216767] [PUBMED:17605038] [PUBMED:15269334]
Phosphatidylinositol signaling system [NCBI:83052] [KEGG:hsa04070] [PUBMED:19439500] [PUBMED:19580826]
Phospholipid metabolism [NCBI:1270053] [REACTOME:R-HSA-1483257] [PUBMED:9242906]
Rho GTPase cycle [NCBI:1269508] [REACTOME:R-HSA-194840] [PUBMED:17222083] [PUBMED:9308960]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Rho GTPases [NCBI:1269507] [REACTOME:R-HSA-194315] [PUBMED:16212495] [PUBMED:15630019]
Synthesis of IP2, IP, and Ins in the cytosol [NCBI:1270000] [REACTOME:R-HSA-1855183] [PUBMED:17068342] [PUBMED:20414202] [PUBMED:11331907] [PUBMED:15024000]
Synthesis of IP3 and IP4 in the cytosol [NCBI:1269989] [REACTOME:R-HSA-1855204] [PUBMED:11331907] [PUBMED:20414202]
Synthesis of PIPs at the Golgi membrane [NCBI:1270075] [REACTOME:R-HSA-1660514] [PUBMED:11279162] [PUBMED:17556371] [PUBMED:10766823] [PUBMED:10559940] [PUBMED:10805725] [PUBMED:14527956] [PUBMED:18950639]
Synthesis of PIPs at the plasma membrane [NCBI:1270077] [REACTOME:R-HSA-1660499] [PUBMED:16399794] [PUBMED:12646134] [PUBMED:10224048] [PUBMED:9113989] [PUBMED:9211928] [PUBMED:12536145] [PUBMED:22647598] [PUBMED:11733541] [PUBMED:9660759] [PUBMED:19896968]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism [NCBI:545325] [BIOCYC:HUMAN_PWY-6358]
superpathway of inositol phosphate compounds [NCBI:547492] [BIOCYC:HUMAN_PWY-6371]
trans-Golgi Network Vesicle Budding [NCBI:1269880] [REACTOME:R-HSA-199992] [PUBMED:11252894]