NPHP3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Nephronophthisis 3 (adolescent)
Identifiers
Symbols NPHP3 ; CFAP31; MKS7; NPH3; RHPD; RHPD1; SLSN3
External IDs OMIM608002 MGI1921275 HomoloGene32697 GeneCards: NPHP3 Gene
Orthologs
Species Human Mouse
Entrez 27031 74025
Ensembl ENSG00000113971 ENSMUSG00000032558
UniProt Q7Z494 Q7TNH6
RefSeq (mRNA) NM_153240 NM_028721
RefSeq (protein) NP_694972 NP_082997
Location (UCSC) Chr 3:
132.28 – 132.44 Mb
Chr 9:
104 – 104.04 Mb
PubMed search [1] [2]

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.[1][2][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 and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.[3]

References[edit]

  1. ^ Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H (Aug 2003). "Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis". Nat Genet 34 (4): 455–9. doi:10.1038/ng1216. PMID 12872122. 
  2. ^ Leipe DD, Koonin EV, Aravind L (Sep 2004). "STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer". J Mol Biol 343 (1): 1–28. doi:10.1016/j.jmb.2004.08.023. PMID 15381417. 
  3. ^ a b "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)". 

Further reading[edit]