Gene/Proteome Database (LMPD)
Proteins
| inositol polyphosphate 5-phosphatase OCRL-1 | |
|---|---|
| Refseq ID | NP_796189 |
| Protein GI | 46195807 |
| UniProt ID | Q6NVF0 |
| mRNA ID | NM_177215 |
| Length | 900 |
| RefSeq Status | PROVISIONAL |
| MEPRLPIGAQPLAMVAGLEMKGPLREPCVLTLARRNGQYELIIQLHGKEQHVQDIIPINSHFRCVQEAEETLLIDIASNSGCKIRVQGDWTRERHFEIPDEERCLKFLSEVLEAQEAQSQLLVPEQKDSSSWYQKLDTMDKPAYSGLLGFEDNFSSLDLDKKMNTQNPRSGSHREPPPPPSSSTRMLSREKEASNKEQPKVTNTMRKLFVPNTQTGQREGLIKHILTKREKEYVNIQSFRFFVGTWNVNGQSPDSSLEPWLDCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSLAVERGLPSKAKYRKVQLVRLVGMMLLIFARKDQCQYIRDVATETTGTGIMGKMGNKGGVAVRFVFHNTTFCIVNSHLAAHVEEFERRNQDYKDICARMTFSVPNQTVPQVNIMKHDVVIWLGDLNYRLCMPDASEVKSLINKNELHKLLKFDQLNIQRTQKKAFADFNEGEINFVPTYKYDSKTDRWDSSGKCRVPAWCDRILWRGINVNQLHYRSHMELKTSDHKPVSALFHIGVKVVDERRYRKVFEDIVRIMDRMENDFLPSLELSRREFFFENVKFRQLQKEKFQISNNGQVPCHFSFIPKLNDSQYCKPWLRAEPFEGYLEPNETLDISLDVYVSKDSVTILNSGEDKIEDILVLHLDRGKDYFLTIGGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSYLEKEKSLLQMVPLDEGTSERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETIPGNNHSVAEALLIFLEALPEPVICYELYQRCLDSAHDPRICKQVISQLPRCHRNVFRYLMAFLRELLKFSDYNNINTNMIATLFSSLLLRPPPNLMTRQTPNDRQHAIQFLLVFLLGNEED | |
Gene Information
Entrez Gene ID
Gene Name
oculocerebrorenal syndrome of Lowe
Gene Symbol
Species
Mus musculus
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0030136 | IEA:Ensembl | C | clathrin-coated vesicle |
| GO:0005905 | IEA:UniProtKB-KW | C | coated pit |
| GO:0005769 | IEA:Ensembl | C | early endosome |
| GO:0070062 | IEA:Ensembl | C | extracellular vesicular exosome |
| GO:0005794 | ISS:MGI | C | Golgi apparatus |
| GO:0005634 | IEA:Ensembl | C | nucleus |
| GO:0001750 | IEA:Ensembl | C | photoreceptor outer segment |
| GO:0005886 | IEA:Ensembl | C | plasma membrane |
| GO:0005802 | IEA:Ensembl | C | trans-Golgi network |
| GO:0004439 | IDA:MGI | F | phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity |
| GO:0030675 | IEA:Ensembl | F | Rac GTPase activator activity |
| GO:0042384 | IEA:Ensembl | P | cilium assembly |
| GO:0001701 | IGI:MGI | P | in utero embryonic development |
| GO:0046856 | IDA:MGI | P | phosphatidylinositol dephosphorylation |
| GO:0032314 | IEA:Ensembl | P | regulation of Rac GTPase activity |
| GO:0007165 | IEA:InterPro | P | signal transduction |
KEGG Pathway Links
| KEGG Pathway ID | Description |
|---|---|
| mmu00562 | Inositol phosphate metabolism |
REACTOME Pathway Links
Domain Information
UniProt Annotations
Entry Information
Gene Name
oculocerebrorenal syndrome of Lowe
Protein Entry
OCRL_MOUSE
UniProt ID
Species
Mouse
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NVF0-1; Sequence=Displayed; Name=2; IsoId=Q6NVF0-2; Sequence=VSP_045749, VSP_045750; Note=No experimental confirmation available.; |
| Catalytic Activity | 1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate. |
| 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 (By similarity). {ECO:0000250}. |
| 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 (By similarity). {ECO:0000250}. |
| Similarity | Belongs to the inositol 1,4,5-trisphosphate 5- phosphatase type II family. {ECO:0000305}. |
| Similarity | Contains 1 PH domain. {ECO:0000305}. |
| Similarity | Contains 1 Rho-GAP domain. {ECO:0000255|PROSITE- ProRule:PRU00172}. |
| Subcellular Location | Cytoplasmic vesicle, phagosome membrane {ECO:0000250}. Early endosome membrane {ECO:0000250}. Membrane, clathrin-coated pit {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Endosome {ECO:0000250}. Golgi apparatus, trans- Golgi network {ECO:0000250}. Note=Also found on macropinosomes. {ECO:0000250}. |
| 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. Interacts with RAB31 (By similarity). {ECO:0000250}. |
Identical and Related Proteins
Unique RefSeq proteins for LMP000526 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 46195807 | RefSeq | NP_796189 | 900 | inositol polyphosphate 5-phosphatase OCRL-1 |
Identical Sequences to LMP000526 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:46195807 | DBBJ | BAE20614.1 | 900 | unnamed protein product [Mus musculus] |
| GI:46195807 | GenBank | AAH68146.1 | 900 | Oculocerebrorenal syndrome of Lowe [Mus musculus] |
| GI:46195807 | SwissProt | Q6NVF0.1 | 900 | RecName: Full=Inositol polyphosphate 5-phosphatase OCRL-1 [Mus musculus] |
Related Sequences to LMP000526 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:46195807 | GenBank | EDL29059.1 | 864 | oculocerebrorenal syndrome of Lowe, isoform CRA_a [Mus musculus] |
| GI:46195807 | RefSeq | NP_001101726.2 | 899 | inositol polyphosphate 5-phosphatase OCRL-1 [Rattus norvegicus] |
| GI:46195807 | RefSeq | XP_006257590.1 | 886 | PREDICTED: inositol polyphosphate 5-phosphatase OCRL-1 isoform X1 [Rattus norvegicus] |
| GI:46195807 | RefSeq | XP_006541564.1 | 880 | PREDICTED: inositol polyphosphate 5-phosphatase OCRL-1 isoform X1 [Mus musculus] |
| GI:46195807 | RefSeq | XP_008824928.1 | 897 | PREDICTED: inositol polyphosphate 5-phosphatase OCRL-1 isoform X1 [Nannospalax galili] |
| GI:46195807 | SwissProt | D3ZGS3.1 | 902 | RecName: Full=Inositol polyphosphate 5-phosphatase OCRL-1 [Rattus norvegicus] |