OCRL - OCRL inositol polyphosphate-5-phosphatase Gene
Also Known as LOCR; DENT2; NPHL2; OCRL1; Dent-2; INPP5F; OCRL-1
生物種: Homo sapiens
About OCRL
This gene has 10 transcripts (splice variants), 223 orthologues, 13 paralogues and is associated with 6 phenotypes. Broad expression in testis (RPKM 21.7), adrenal (RPKM 15.8) and 25 other tissues.
Summary
This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
OCRL Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_000276.4 | NP_000267.2 | inositol polyphosphate 5-phosphatase OCRL isoform a |
| NM_001318784.2 | NP_001305713.1 | inositol polyphosphate 5-phosphatase OCRL isoform c |
| NM_001587.4 | NP_001578.2 | inositol polyphosphate 5-phosphatase OCRL isoform b |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables GTPase activator activity |
IDA
IDA: Inferred from direct assay
|
12915445 | GOA |
| enables inositol phosphate phosphatase activity |
IDA
IDA: Inferred from direct assay
|
25869668 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12915445 | GOA |
| enables small GTPase binding |
IPI
IPI: Inferred from physical interaction
|
12915445 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in cilium assembly |
IMP
IMP: Inferred from mutant phenotype
|
22228094 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in clathrin-coated vesicle |
IDA
IDA: Inferred from direct assay
|
21233288 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12915445 | GOA |
| located in early endosome |
IDA
IDA: Inferred from direct assay
|
21233288 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
12915445 | GOA |
| located in photoreceptor outer segment |
IDA
IDA: Inferred from direct assay
|
22543976 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
12915445 | GOA |
| located in trans-Golgi network |
IDA
IDA: Inferred from direct assay
|
12915445 | GOA |
OCRL Protein Structure
Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (245 - 524)
RhoGAP: RhoGAP domain (735 - 874)
- 0
- 200
- 400
- 600
- 800
- 901 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
inositol polyphosphate 5-phosphatase OCRL |
|
OCRL Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
OCRL | Q01968 | RAB1B | Homo sapiens | Q9H0U4 | 21378754 | |
|
Intra
|
OCRL | Q01968 | RAB1B | Homo sapiens | Q9H0U4 | 25107275 | |
|
Intra
|
OCRL | Q01968 | RAB6A | Homo sapiens | P20340 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB6A | Homo sapiens | P20340 | 25107275 | |
|
Intra
|
OCRL | Q01968 | RAB6A | Homo sapiens | P20340 | 21378754 | |
|
Intra
|
OCRL | Q01968 | RAB6A | Homo sapiens | P20340 | 21378754 | |
|
Intra
|
OCRL | Q01968 | RAB6A | Homo sapiens | P20340 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB6A | Homo sapiens | P20340 | 33961781 | |
|
Intra
|
OCRL | Q01968 | RAB14 | Homo sapiens | P61106 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB14 | Homo sapiens | P61106 | 16902405 | |
|
Intra
|
OCRL | Q01968 | CLTC | Homo sapiens | Q00610 | 25107275 | |
|
Intra
|
OCRL | Q01968 | CLTC | Homo sapiens | Q00610 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB5A | Homo sapiens | P20339 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB5A | Homo sapiens | P20339 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB5A | Homo sapiens | P20339 | 25107275 | |
|
Intra
|
OCRL | Q01968 | RAB5A | Homo sapiens | P20339 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB5A | Homo sapiens | P20339 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB5A | Homo sapiens | P20339 | 21378754 | |
|
Intra
|
OCRL | Q01968 | RAC1 | Homo sapiens | P63000 | 12915445 | |
|
Intra
|
OCRL | Q01968 | RAC1 | Homo sapiens | P63000 | 12915445 | |
|
Intra
|
OCRL | Q01968 | RAB1A | Homo sapiens | P62820 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB1A | Homo sapiens | P62820 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB1A | Homo sapiens | P62820 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB1A | Homo sapiens | P62820 | 25107275 | |
|
Intra
|
OCRL | Q01968 | RAB8A | Homo sapiens | P61006 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB8A | Homo sapiens | P61006 | 16902405 | |
|
Intra
|
OCRL | Q01968 | RAB8A | Homo sapiens | P61006 | 21378754 | |
|
Intra
|
OCRL | Q01968 | RAB8A | Homo sapiens | P61006 | 21378754 | |
|
Intra
|
OCRL | Q01968 | RAB8A | Homo sapiens | P61006 | 16902405 | |
|
Intra
|
OCRL | Q01968 | PHETA1 | Homo sapiens | Q8N4B1 | 33961781 | |
|
Intra
|
OCRL | Q01968 | PHETA1 | Homo sapiens | Q8N4B1 | 35271311 | |
|
Intra
|
OCRL | Q01968 | PHETA1 | Homo sapiens | Q8N4B1 | 25107275 | |
|
Cross
|
OCRL | Q01968 | Cltc | Mus musculus | Q68FD5 | 25107275 | |
|
Intra
|
OCRL | Q01968 | SNX9 | Homo sapiens | Q9Y5X1 | 25107275 | |
|
Cross
|
OCRL | Q01968 | Snx9 | Mus musculus | Q91VH2 | 25107275 | |
|
Cross
|
OCRL | Q01968 | Cltc | Rattus norvegicus | P11442 | 19536138 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Lowe Oculocerebrorenal Syndrome |
|
|
| Dent Disease 2 |
|
|
| Dent Disease 1 |
|
|
| Renal Tubular Acidosis |
|
|
| Rickets |
|
|
| Fanconi Syndrome |
|
|
| Cataract |
|
|
| Cataract-Glaucoma |
|
|
| Nephrocalcinosis |
|
|
| Lens Disease |
|
|
| Ablepharon-Macrostomia Syndrome |
|
|
| Hypophosphatemia |
|
|
| Donnai-Barrow Syndrome |
|
|
| Renal Tubular Transport Disease |
|
|
| Aminoaciduria |
|
|
| Bardet-Biedl Syndrome 5 |
|
|
| Hypophosphatemic Rickets, X-Linked Recessive |
|
|
| Legionnaire Disease |
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
|
| Legionellosis |
|
|
| Bardet-Biedl Syndrome |
|
|
| Glaucoma 3, Primary Congenital, A |
|
|
| Joubert Syndrome 1 |
|
|
| Cystinosis |
|
|
| Stereotypic Movement Disorder |
|
|
| Alport Syndrome |
|
|
| Fundus Dystrophy |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Canis familiaris | OCRL | VGNC | VGNC:44095 |
| Rattus norvegicus | OCRL | RGD | RGD:1594526 |
| Felis catus | OCRL | VGNC | VGNC:68616 |
| Mus musculus | OCRL | MGD | MGI:109589 |
| Macaca mulatta | OCRL | VGNC | VGNC:75577 |
| Bos taurus | OCRL | VGNC | VGNC:32398 |
| Others | OCRL | NCBI |