NPHP3

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NPHP3
Identifiers
Aliases NPHP3, CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, nephronophthisis 3 (adolescent), nephrocystin 3
External IDs MGI: 1921275 HomoloGene: 32697 GeneCards: NPHP3
Gene location (Human)
Chromosome 3 (human)
Chr. Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for NPHP3
Genomic location for NPHP3
Band 3q22.1 Start 132,680,609 bp[1]
End 132,722,442 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_153240

NM_028721
NM_172460

RefSeq (protein)

NP_694972

NP_082997
NP_766048

Location (UCSC) Chr 3: 132.68 – 132.72 Mb Chr 3: 104 – 104.04 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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 as been described.[8]

References[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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. 
  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 2427297Freely accessible. PMID 18371931. 

Further reading[edit]