| Gene Symbol | TULP1 |
|---|---|
| Entrez Gene | 7287 |
| Alt Symbol | LCA15, RP14, TUBL1 |
| Species | Human |
| Gene Type | protein-coding |
| Description | tubby like protein 1 |
| Other Description | tubby-related protein 1 |
| Swissprots | O43536 Q5TGM5 Q8N571 O00294 |
| Accessions | AAB97966 EAX03839 EAX03840 O00294 AB593123 BAJ84063 AB593124 BAJ84064 BC032714 AAH32714 BC065261 AAH65261 CN355966 DQ426893 ABD90544 EU446712 ABZ92241 U82468 AAB53700 NM_001289395 NP_001276324 NM_003322 NP_003313 |
| Function | Required for normal development of photoreceptor synapses. Required for normal photoreceptor function and for long- term survival of photoreceptor cells. Interacts with cytoskeleton proteins and may play a role in protein transport in photoreceptor cells (By similarity). Binds lipids, especially phosphatidylinositol 3-phosphate, phosphatidylinositol 4- phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,4-bisphosphate, phosphatidylinositol 4,5-bisphosphate, phosphatidylinositol 3,4,5-bisphosphate, phosphatidylserine and phosphatidic acid (in vitro). Contribute to stimulation of phagocytosis of apoptotic retinal pigment epithelium (RPE) cells and macrophages. {ECO:0000250, ECO:0000269|PubMed:16303976, ECO:0000269|PubMed:19837063}. |
| Subcellular Location | Cytoplasm {ECO:0000269|PubMed:16303976}. Cell membrane {ECO:0000269|PubMed:16303976}; Peripheral membrane protein {ECO:0000269|PubMed:16303976}; Cytoplasmic side {ECO:0000269|PubMed:16303976}. Secreted {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Detected at synapses between photoreceptor cells and second-order neurons. Does not have a cleavable signal peptide and is secreted by an alternative pathway (By similarity). {ECO:0000250}. |
| Tissue Specificity | Retina-specific. |