NPHP3
Identifiers
AliasesNPHP3, CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, nephronophthisis 3 (adolescent), nephrocystin 3
External IDsOMIM: 608002 MGI: 1921275 HomoloGene: 32697 GeneCards: NPHP3
Orthologs
SpeciesHumanMouse
Entrez

27031

74025

Ensembl

ENSG00000113971

ENSMUSG00000032558

UniProt

Q7Z494

Q7TNH6

RefSeq (mRNA)

NM_153240

NM_028721
NM_172460

RefSeq (protein)

NP_694972

NP_082997
NP_766048

Location (UCSC)Chr 3: 132.68 – 132.72 MbChr 9: 103.88 – 103.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Nephrocystin-3 is a protein that in humans is encoded by the NPHP3 gene.[5][6][7]

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.[7]

An association with renal-hepatic-pancreatic dysplasia has been described.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000113971 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032558 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. S2CID 22062277.
  6. ^ 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.
  7. ^ a b "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)".
  8. ^ Bergmann C, Fliegauf M, Brüchle NO, et al. (April 2008). "Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia". Am. J. Hum. Genet. 82 (4): 959–970. doi:10.1016/j.ajhg.2008.02.017. PMC 2427297. PMID 18371931.

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