NPHP3 (original) (raw)

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Protein-coding gene in the species Homo sapiens

NPHP3
Identifiers
Aliases	NPHP3, CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3, nephronophthisis 3 (adolescent), nephrocystin 3
External IDs	OMIM: 608002; MGI: 1921275; HomoloGene: 32697; GeneCards: NPHP3; OMA:NPHP3 - orthologs
Gene location (Human)Chr.Chromosome 3 (human)[1]Band3q22.1Start132,680,609 bp[1]End132,722,432 bp[1]
Gene location (Mouse)Chr.Chromosome 9 (mouse)[2]Band9 F1|9 56.11 cMStart103,879,743 bp[2]End103,921,017 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed insuperficial temporal arterysynovial membraneleft ovarythymusright uterine tubeAchilles tendonurethraright ovarycanal of the cervixmucosa of paranasal sinusTop expressed inventricular zonetail of embryogenital tubercleright kidneysuperior frontal gyrusprimary visual cortexzygoteembryoyolk sacembryoMore reference expression dataBioGPSn/a
Gene ontologyMolecular function protein binding Cellular component cell projection cytosol cilium extracellular region Biological process Wnt signaling pathway determination of liver left/right asymmetry determination of pancreatic left/right asymmetry lung development atrial septum development heart looping convergent extension involved in gastrulation ureter development regulation of Wnt signaling pathway, planar cell polarity pathway negative regulation of canonical Wnt signaling pathway epithelial cilium movement involved in determination of left/right asymmetry photoreceptor cell maintenance determination of intestine left/right asymmetry determination of stomach left/right asymmetry regulation of planar cell polarity pathway involved in neural tube closure kidney development determination of left/right symmetry maintenance of animal organ identity cilium assembly kidney morphogenesis Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez2703174025EnsemblENSG00000113971ENSMUSG00000032558UniProtQ7Z494Q7TNH6RefSeq (mRNA)NM_153240NM_028721NM_172460RefSeq (protein)NP_694972NP_082997NP_766048Location (UCSC)Chr 3: 132.68 – 132.72 MbChr 9: 103.88 – 103.92 MbPubMed 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]

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.

• Omran H, Fernandez C, Jung M, et al. (2000). "Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree". Am. J. Hum. Genet. 66 (1): 118–27. doi:10.1086/302705. PMC 1360127. PMID 10631142.
• Omran H, Häffner K, Burth S, et al. (2001). "Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice". J. Am. Soc. Nephrol. 12 (1): 107–13. doi:10.1681/ASN.V121107. PMID 11134256.
• Omran H, Sasmaz G, Häffner K, et al. (2002). "Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene". J. Am. Soc. Nephrol. 13 (1): 75–9. doi:10.1681/ASN.V13175. PMID 11752023.
• Ohara O, Nagase T, Mitsui G, et al. (2003). "Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method". DNA Res. 9 (2): 47–57. doi:10.1093/dnares/9.2.47. PMID 12056414.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.