Pigeon Tubby-Related Protein 1 (TULP1) ELISA Kit | TULP1 elisa kit

Pigeon Tubby-Related Protein 1 (TULP1) ELISA Kit

• Gene Names: TULP1; RP14; LCA15; TUBL1
• Reactivity: Pigeon
• Synonyms: Tubby-Related Protein 1 (TULP1); Pigeon Tubby-Related Protein 1 (TULP1) ELISA Kit; TULP1 elisa kit

• Reactivity: Pigeon
• Sequence Length: 542

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 157266334
• NCBI GeneID: 7287
• NCBI Accession #: NP_003313.3
• NCBI GenBank Nucleotide #: NM_003322.5
• UniProt Accession #: O00294; O43536; Q5TGM5; Q8N571
• Molecular Weight: 54,667 Da
• NCBI Official Full Name: tubby-related protein 1 isoform 1
• NCBI Official Synonym Full Names: tubby like protein 1
• NCBI Official Symbol: TULP1
• NCBI Official Synonym Symbols: RP14; LCA15; TUBL1
• NCBI Protein Information: tubby-related protein 1
• UniProt Protein Name: Tubby-related protein 1
• Protein Family: Tubby-related protein
• UniProt Gene Name: TULP1
• UniProt Synonym Gene Names: TUBL1

NCBI Description

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]

Uniprot Description

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: 6p21.31

Cellular Component: axon terminus; cell junction; cell projection; cilium; cytosol; extracellular region; photoreceptor inner segment; photoreceptor outer segment; plasma membrane; synapse

Molecular Function: actin filament binding; phosphatidylinositol-4,5-bisphosphate binding; protein binding

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

Disease: Leber Congenital Amaurosis 15; Retinitis Pigmentosa 14