3c5n
From Proteopedia
Structure of human TULP1 in complex with IP3
Structural highlights
DiseaseTULP1_HUMAN Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14) [MIM:600132. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP14 inheritance is autosomal recessive.[1] [2] [3] [4] [5] Defects in TULP1 are the cause of Leber congenital amaurosis type 15 (LCA15) [MIM:613843. LCA15 is a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.[6] [7] FunctionTULP1_HUMAN 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.[8] [9] Evolutionary ConservationCheck, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
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Categories: Homo sapiens | Large Structures | Arrowsmith CH | Berglund H | Busam RD | Collins R | Dahlgren LG | Edwards AM | Flodin S | Flores A | Graslund S | Hallberg BM | Hammarstrom M | Herman MD | Johansson A | Johansson I | Kallas A | Karlberg T | Kotenyova T | Lehtio L | Moche M | Nilsson ME | Nordlund P | Nyman T | Persson C | Sagemark J | Svensson L | Thorsell AG | Tresaugues L | Van den Berg S | Weigelt J | Welin M