Tbio NPHP3 Nephrocystin-3

Protein Summary

Description

Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]

Uniprot Accession IDs

• Q7Z494
• Q5JPE3
• Q5JPE6
• Q68D99
• Q6NVH3
• Q7Z492
• Q7Z493
• Q8N9R2
• Q8NCM5
• Q96N70
• Q96NK2

Gene Name

• NPHP3

Ensembl ID

• ENST00000337331
• ENSP00000338766
• ENSG00000113971
• ENST00000383282
• ENSP00000372769

Symbol

• KIAA2000
• MKS7
• NPH3
• RHPD
• RHPD1
• SLSN3
• CFAP31

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cell type or tissue	0.81
histone modification site profile	0.76
tissue sample	0.67
biological process	0.64
phenotype	0.61

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: 41.51   (req: < 5)

Gene RIFs: 13   (req: <= 3)

Antibodies: 95   (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: 41.51   (req: >= 5)

Gene RIFs: 13   (req: > 3)

Antibodies: 95   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20

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