| Gene Symbol |
OCRL
|
| Entrez Gene |
4952
|
| Alt Symbol |
INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
oculocerebrorenal syndrome of Lowe
|
| Other Description |
Lowe oculocerebrorenal syndrome protein|inositol polyphosphate 5-phosphatase OCRL-1|phosphatidylinositol polyphosphate 5-phosphatase
|
| Swissprots |
Q5JQF2 Q4VY09 Q15684 A6NKI1 Q15774 Q9UJG5 Q5JQF1 Q01968 B7ZLX2 Q4VY10 O60800 A8KAP2 Q9UMA5
|
| Accessions |
EAX11830 EAX11831 EAX11832 Q01968 AK226116 AK293107 BAF85796 BC018003 AAH18003 BC025253 AAH25253 BC094726 AAH94726 BC130612 AAI30613 BC144106 AAI44107 S62084 AAD13933 S62085 AAB26926 U57627 AAB03839 XM_005262422 XP_005262479 XM_011531342 XP_011529644 XM_011531343 XP_011529645 XM_011531344 XP_011529646 XM_011531345 XP_011529647 XM_011531346 XP_011529648 NM_000276 NP_000267 NM_001587 NP_001578
|
| 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. {ECO:0000269|PubMed:22228094, ECO:0000269|PubMed:22543976}.
|
| Subcellular Location |
Cytoplasmic vesicle, phagosome membrane {ECO:0000250}. Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cytoplasmic vesicle {ECO:0000250}. Endosome {ECO:0000250}. Golgi apparatus, trans-Golgi network {ECO:0000250}. Note=Also found on macropinosomes.
|
| Tissue Specificity |
Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. {ECO:0000269|PubMed:22543976}.
|
| Top Pathways |
Inositol phosphate metabolism, Phosphatidylinositol signaling system
|