Aliases for TULP1 Gene
External Ids for TULP1 Gene
Previous HGNC Symbols for TULP1 Gene
Previous GeneCards Identifiers for TULP1 Gene
This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. The protein encoded by this gene is thought to play a role in the physiology of photoreceptors. Mutations in this gene are associated with recessive juvenile retinitis pigmentosa and Leber congenital amaurosis-15. [provided by RefSeq, Nov 2016]
GeneCards Summary for TULP1 Gene
TULP1 (Tubby Like Protein 1) is a Protein Coding gene. Diseases associated with TULP1 include Leber Congenital Amaurosis 15 and Retinitis Pigmentosa 14. Gene Ontology (GO) annotations related to this gene include actin filament binding and G-protein coupled photoreceptor activity. An important paralog of this gene is TUB.
UniProtKB/Swiss-Prot for TULP1 Gene
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.