Gene Information | |
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Gene Name | OCRL |
Organism | Homo sapiens (Human) |
Gene Length | 901 |
Protein Names | Inositol polyphosphate 5-phosphatase OCRL (EC 3.1.3.36) (EC 3.1.3.56) (Inositol polyphosphate 5-phosphatase OCRL-1) (OCRL-1) (Lowe oculocerebrorenal syndrome protein) (Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase) (EC 3.1.3.86) |
Target Name | NA |
Target Type | NA |
Gene Age | 680 ( ENSG00000122126 ) |
Evolutionary Stage | Eukaryota |
AlphaFoldDB | Q01968 |
Gene Card | OCRL |
Uniprot ID | Q01968 |
Pfam | PF03372; PF16726; PF00620 |
In ASD | no |
Allosteric Prediction | yes (0.071906582) |
Ortholog in Animals | Alpaca_ OCRL ( ortholog_one2one ) Dog_ OCRL ( ortholog_one2one ) GuineaPig_ OCRL ( ortholog_one2one ) Macaque_ OCRL ( ortholog_one2one ) Mouse_ Ocrl ( ortholog_one2one ) Pig_ OCRL ( ortholog_one2one ) Rat_ Ocrl ( ortholog_one2one ) Rabbit_ OCRL ( ortholog_one2one ) |
Ohnologs | INPP5B |
Paralogs | SH2D1B, SH2D1A, FIG4, INPP5E, SYNJ2, SACM1L, INPP5D, INPPL1, INPP5F, INPP5J, SYNJ1, INPP5B, INPP5K |
Tissue | NA |
Tissue Specificity | Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. {ECO:0000269|PubMed:22543976}. |
Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);NULL(Rabbit) |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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PDB | 2KIE (NMR - ) 2QV2 (X-ray 2.40A ) 3QBT (X-ray 2.00A ) 3QIS (X-ray 2.30A ) 4CMN (X-ray 3.13A ) |
DBSNP | rs137853828 rs137853829 rs137853830 rs137853263 rs137853831 rs137853833 rs137853854 rs137853832 rs137853834 rs137853835 rs137853836 rs137853848 rs137853837 rs137853855 rs137853856 rs137853850 rs137853838 rs137853839 rs137853851 rs137853841 rs137853840 rs137853262 rs137853846 rs137853857 rs137853842 rs398123287 rs137853260 rs137853843 rs137853849 rs137853847 rs137853853 rs137853261 rs137853852 rs137853858 rs137853844 rs935956958 rs137853845 |
Subcellular location [CC] | 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}. |
Mouse PG classification | NA |
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