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NPHP3

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From Wikipedia, the free encyclopedia

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]

Band	3q22.1	Start	132,680,609bp^[1]
Band	3q22.1	End	132,722,432bp^[1]

Gene location (Mouse)

Chr.	Chromosome 9 (mouse)^[2]

Band	9 F1\|9 56.11 cM	Start	103,879,743bp^[2]
Band	9 F1\|9 56.11 cM	End	103,921,017bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

BioGPS

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

Species

Human

Mouse

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 Mb

Chr 9: 103.88 – 103.92 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Nephrocystin-3 is aprotein that in humans is encoded by theNPHP3gene.^[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. Multiplesplice variants have been described but their full-length nature has not been determined.^[7]

An association withrenal-hepatic-pancreatic dysplasia has been described.^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000113971 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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.

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.

v t e Ciliaryproteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also:ciliopathy

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