NPHP3 information

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)
End	132,722,432 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	103,921,017 bp
RNA expression pattern
	Top expressed in
	superficial temporal artery; ; synovial membrane; ; left ovary; ; thymus; ; right uterine tube; ; Achilles tendon; ; urethra; ; right ovary; ; canal of the cervix; ; mucosa of paranasal sinus;
	Top expressed in
	ventricular zone; ; tail of embryo; ; genital tubercle; ; right kidney; ; superior frontal gyrus; ; primary visual cortex; ; zygote; ; embryo; ; yolk sac; ; embryo;
	More reference expression data
	n/a
Gene ontology
Molecular 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
Orthologs
	27031
	74025
	ENSG00000113971
	ENSMUSG00000032558
	Q7Z494
	Q7TNH6
	NM_153240
	NM_028721; NM_172460
	NP_694972
	NP_082997; NP_766048
	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 has been described.^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000113971 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032558 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)".
^ 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000113971 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid12872122-5] 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.

[pmid15381417-6] 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.

[entrez-7] "Entrez Gene: NPHP3 nephronophthisis 3 (adolescent)".

[pmid18371931-8] 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.

NPHP3 information

and 7 Related for: NPHP3 information

NPHP3

Conorenal syndrome

Ciliopathy

Tetratricopeptide repeat

Nephronophthisis

NPHP1

List of OMIM disorder codes