Gene/Proteome Database (LMPD)
LMPD ID
LMP002091
Gene ID
Species
Homo sapiens (Human)
Gene Name
oculocerebrorenal syndrome of Lowe
Gene Symbol
Synonyms
INPP5F; LOCR; NPHL2; OCRL-1; OCRL1
Alternate Names
inositol polyphosphate 5-phosphatase OCRL-1; Lowe oculocerebrorenal syndrome protein; phosphatidylinositol polyphosphate 5-phosphatase
Chromosome
X
Map Location
Xq25
EC Number
3.1.3.36
Summary
This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. [provided by RefSeq, Jul 2008]
Orthologs
Proteins
| inositol polyphosphate 5-phosphatase OCRL-1 isoform a | |
|---|---|
| Refseq ID | NP_000267 |
| Protein GI | 13325072 |
| UniProt ID | Q01968 |
| mRNA ID | NM_000276 |
| Length | 901 |
| RefSeq Status | REVIEWED |
| MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED | |
| inositol polyphosphate 5-phosphatase OCRL-1 isoform b | |
|---|---|
| Refseq ID | NP_001578 |
| Protein GI | 13325070 |
| UniProt ID | Q01968 |
| mRNA ID | NM_001587 |
| Length | 893 |
| RefSeq Status | REVIEWED |
| MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQLLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPPPFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTFRFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMAVERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWLGDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEKSLLQMVPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLMAFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEED | |
Gene Information
Entrez Gene ID
Gene Name
oculocerebrorenal syndrome of Lowe
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005795 | TAS:ProtInc | C | Golgi stack |
| GO:0005798 | TAS:ProtInc | C | Golgi-associated vesicle |
| GO:0030136 | IDA:UniProtKB | C | clathrin-coated vesicle |
| GO:0005905 | IEA:UniProtKB-KW | C | coated pit |
| GO:0005737 | IDA:FlyBase | C | cytoplasm |
| GO:0005829 | TAS:Reactome | C | cytosol |
| GO:0005769 | IDA:UniProtKB | C | early endosome |
| GO:0070062 | IDA:UniProt | C | extracellular vesicular exosome |
| GO:0005634 | IDA:FlyBase | C | nucleus |
| GO:0001750 | IDA:UniProtKB | C | photoreceptor outer segment |
| GO:0005886 | IDA:FlyBase | C | plasma membrane |
| GO:0005802 | IDA:FlyBase | C | trans-Golgi network |
| GO:0030675 | IDA:FlyBase | F | Rac GTPase activator activity |
| GO:0048365 | IPI:FlyBase | F | Rac GTPase binding |
| GO:0052745 | NAS:UniProtKB | F | inositol phosphate phosphatase activity |
| GO:0004439 | TAS:ProtInc | F | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
| GO:0042384 | IMP:UniProtKB | P | cilium assembly |
| GO:0001701 | IEA:Ensembl | P | in utero embryonic development |
| GO:0043647 | TAS:Reactome | P | inositol phosphate metabolic process |
| GO:0006629 | NAS:UniProtKB | P | lipid metabolic process |
| GO:0006661 | TAS:Reactome | P | phosphatidylinositol biosynthetic process |
| GO:0046856 | IEA:Ensembl | P | phosphatidylinositol dephosphorylation |
| GO:0006644 | TAS:Reactome | P | phospholipid metabolic process |
| GO:0032855 | IDA:GOC | P | positive regulation of Rac GTPase activity |
| GO:0032314 | IDA:FlyBase | P | regulation of Rac GTPase activity |
| GO:0051056 | TAS:Reactome | P | regulation of small GTPase mediated signal transduction |
| GO:0007264 | TAS:Reactome | P | small GTPase mediated signal transduction |
| GO:0044281 | TAS:Reactome | P | small molecule metabolic process |
BIOCYC Pathway Links
| BIOCYC Pathway ID | Description |
|---|---|
| PWY-6362 | 1D-myo-inositol hexakisphosphate biosynthesis II (mammalian) |
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_150352 | Synthesis of IP2, IP, and Ins in the cytosol |
| REACT_150312 | Synthesis of IP3 and IP4 in the cytosol |
| REACT_120836 | Synthesis of PIPs at the Golgi membrane |
Domain Information
UniProt Annotations
Entry Information
Gene Name
oculocerebrorenal syndrome of Lowe
Protein Entry
OCRL_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=A; IsoId=Q01968-1; Sequence=Displayed; Name=B; IsoId=Q01968-2; Sequence=VSP_002681; |
| Catalytic Activity | 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
| Caution | It is uncertain whether Met-1, Met-18 or Met-20 is the initiator. |
| Disease | Dent disease 2 (DD2) [MIM |
| Disease | Lowe oculocerebrorenal syndrome (OCRL) [MIM |
| Domain | The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature. |
| Function | Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also converts inositol 1,4,5- trisphosphate to inositol 1,4-bisphosphate and inositol 1,3,4,5- tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with lysosomes. Involved in primary cilia assembly. |
| Interaction | Q00610:CLTC; NbExp=4; IntAct=EBI-6148898, EBI-354967; P11442:Cltc (xeno); NbExp=5; IntAct=EBI-6148898, EBI-397997; P61106:RAB14; NbExp=3; IntAct=EBI-6148898, EBI-1056404; P62820:RAB1A; NbExp=7; IntAct=EBI-6148898, EBI-716845; Q9H0U4:RAB1B; NbExp=2; IntAct=EBI-6148898, EBI-1045214; P20339:RAB5A; NbExp=10; IntAct=EBI-6148898, EBI-399437; P20340:RAB6A; NbExp=11; IntAct=EBI-6148898, EBI-1052826; P61006:RAB8A; NbExp=11; IntAct=EBI-6148898, EBI-722293; P63000:RAC1; NbExp=3; IntAct=EBI-6148898, EBI-413628; |
| Sequence Caution | Sequence=AAA59964.2; Type=Erroneous initiation; Evidence= ; |
| Similarity | Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family. |
| Similarity | Contains 1 PH domain. |
| Similarity | Contains 1 Rho-GAP domain. {ECO |
| Subcellular Location | Cytoplasmic vesicle, phagosome membrane . Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cytoplasmic vesicle {ECO |
| Subunit | Interacts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually exclusive. Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia. {ECO |
| Tissue Specificity | Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. |
| Web Resource | Name=Lowe Syndrome mutation database; URL="http://research.nhgri.nih.gov/lowe/"; |
Identical and Related Proteins
Unique RefSeq proteins for LMP002091 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 13325072 | RefSeq | NP_000267 | 901 | inositol polyphosphate 5-phosphatase OCRL-1 isoform a |
| 13325070 | RefSeq | NP_001578 | 893 | inositol polyphosphate 5-phosphatase OCRL-1 isoform b |
Identical Sequences to LMP002091 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:13325072 | GenBank | AAB03839.2 | 901 | ocrl1 [Homo sapiens] |
| GI:13325070 | GenBank | EAX11831.1 | 893 | oculocerebrorenal syndrome of Lowe, isoform CRA_b [Homo sapiens] |
| GI:13325072 | GenBank | EAX11832.1 | 901 | oculocerebrorenal syndrome of Lowe, isoform CRA_c [Homo sapiens] |
| GI:13325070 | GenBank | AAI30613.1 | 893 | Oculocerebrorenal syndrome of Lowe [Homo sapiens] |
| GI:13325070 | PIR | - | 893 | phosphatidylinositol polyphosphate 5-phosphotase, isoform b [imported] - human [Homo sapiens] |
| GI:13325072 | SwissProt | Q01968.3 | 901 | RecName: Full=Inositol polyphosphate 5-phosphatase OCRL-1; AltName: Full=Lowe oculocerebrorenal syndrome protein [Homo sapiens] |
Related Sequences to LMP002091 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:13325072 | DBBJ | BAF85796.1 | 901 | unnamed protein product [Homo sapiens] |
| GI:13325072 | GenBank | AAE27692.1 | 901 | Sequence 5 from patent US 5955338 |
| GI:13325070 | GenBank | AAA59964.2 | 968 | Lowe oculocerebrorenal syndrome protein [Homo sapiens] |
| GI:13325070 | GenBank | AAI44107.1 | 893 | Oculocerebrorenal syndrome of Lowe [Homo sapiens] |
| GI:13325070 | GenBank | ACM81785.1 | 952 | Sequence 7283 from patent US 6812339 |
| GI:13325070 | GenBank | ACM81786.1 | 952 | Sequence 7284 from patent US 6812339 |
| GI:13325072 | GenBank | JAA10286.1 | 901 | oculocerebrorenal syndrome of Lowe [Pan troglodytes] |
| GI:13325070 | GenBank | JAA14252.1 | 893 | oculocerebrorenal syndrome of Lowe [Pan troglodytes] |
| GI:13325072 | GenBank | JAA14253.1 | 901 | oculocerebrorenal syndrome of Lowe [Pan troglodytes] |
| GI:13325072 | GenBank | JAA26807.1 | 901 | oculocerebrorenal syndrome of Lowe [Pan troglodytes] |
| GI:13325072 | GenBank | JAA34286.1 | 901 | oculocerebrorenal syndrome of Lowe [Pan troglodytes] |
| GI:13325070 | PRF | - | 970 | OCRL-1 gene [Homo sapiens] |