NPHP3, nephrocystin 3

NPHP3, nephrocystin 3

• 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]

• Gene Synonyms (CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, nephrocystin-3, Meckel syndrome, type 7, cilia and flagella associated protein 31, nephronophthisis 3 (adolescent),)
• NCBI Gene ID: 27031
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q7Z494
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

nephrocystin 3 interacts with:

• alanyl-tRNA synthetase domain containing 1
  chromosome 12 open reading frame 75
  family with sequence similarity 167 member A
  formin like 2
  geminin DNA replication inhibitor
  kelch like family member 29
  nephrocystin 3
  non-SMC condensin II complex, subunit G2
  odontogenesis associated phosphoprotein
  phosphatase domain containing paladin 1
  pleckstrin homology domain containing A4
  Rho guanine nucleotide exchange factor 35
  ring finger and SPRY domain containing 1
  sorting nexin 11
  unc-119 lipid binding chaperone B
  USO1 vesicle docking factor
  zinc finger protein 517

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.