Tbio RPGRIP1L Protein fantom

Protein Summary

Description

Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left-right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis (PubMed:19464661). Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled proteins (By similarity). Involved in regulation of proteasomal activity at the primary cilium probably implicating association with PSDM2 (By similarity). The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]

Uniprot Accession IDs

• Q68CZ1
• A0PJ88
• Q9Y2K8

Gene Name

• RPGRIP1L

Ensembl ID

• ENST00000262135
• ENSP00000262135
• ENSG00000103494
• ENST00000379925
• ENSP00000369257
• ENST00000647211
• ENSP00000493946

Symbol

• FTM
• KIAA1005
• NPHP8
• FTM
• MKS5
• CORS3
• JBTS7
• NPHP8
• PPP1R134

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.79
microRNA	0.76
phenotype	0.73
cell line	0.62
tissue sample	0.62

Protein Classes

PANTHER Classes

Protein / Enzyme Modulator / G-protein Modulator / Protein Fantom

DTO Classes

Protein / Enzyme Modulator / G-protein Modulator / Protein Fantom

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: 172.59   (req: < 5)

Gene RIFs: 30   (req: <= 3)

Antibodies: 99   (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: 172.59   (req: >= 5)

Gene RIFs: 30   (req: > 3)

Antibodies: 99   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 22

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