Tubby Like Protein 1 (TULP1) Human Recombinant Protein

This gene encodes a member of the tubby-like gene family (TULPs). Members of this family have been identified in plants, vertebrates, and invertebrates and encode proteins of unknown function. TULP proteins share a conserved C-terminal region of approximately 200 amino acid residues. Mutations in this gene may be associated with juvenile retinitis pigmentosa and Leber congenital amaurosis-15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

TULP1: 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. 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. Defects in TULP1 are the cause of retinitis pigmentosa type 14 (RP14). 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. Defects in TULP1 are the cause of Leber congenital amaurosis type 15 (LCA15). 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. Belongs to the TUB family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 6p21.3

Cellular Component: photoreceptor inner segment; cell projection; photoreceptor outer segment; cytoplasm; plasma membrane; extracellular region; synapse; cell junction

Molecular Function: actin filament binding; protein binding; phosphatidylinositol-4,5-bisphosphate binding; G-protein coupled photoreceptor activity

Biological Process: retinal homeostasis; eye photoreceptor cell development; visual perception; retina development in camera-type eye; positive regulation of phagocytosis; photoreceptor cell maintenance; dendrite development; phototransduction; detection of light stimulus involved in visual perception; phagocytosis

Disease: Retinitis Pigmentosa 14; Leber Congenital Amaurosis 15