Tbio TULP1 Tubby-related protein 1

Protein Summary

Description

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. 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 Accession IDs

• O00294
• O43536
• Q5TGM5
• Q8N571

Gene Name

• TULP1

Ensembl ID

• ENST00000229771
• ENSP00000229771
• ENSG00000112041
• ENST00000322263
• ENSP00000319414

Symbol

• TUBL1
• RP14
• LCA15
• TUBL1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cell type or tissue	0.84
molecular function	0.81
cellular component	0.67
gene perturbation	0.67
tissue sample	0.65

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 62.07   (req: < 5)

Gene RIFs: 21   (req: <= 3)

Antibodies: 91   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 62.07   (req: >= 5)

Gene RIFs: 21   (req: > 3)

Antibodies: 91   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0