Human Gene NPHP3 (ENST00000337331.10) from GENCODE V43
Description: Homo sapiens nephrocystin 3 (NPHP3), mRNA. (from RefSeq NM_153240) RefSeq Summary (NM_153240): 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, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000337331.10 Gencode Gene: ENSG00000113971.21 Transcript (Including UTRs) Position: hg38 chr3:132,680,609-132,722,409 Size: 41,801 Total Exon Count: 27 Strand: - Coding Region Position: hg38 chr3:132,681,910-132,722,355 Size: 40,446 Coding Exon Count: 27
ID:NPHP3_HUMAN DESCRIPTION: RecName: Full=Nephrocystin-3; FUNCTION: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. SUBUNIT: Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is required for localization to cilium. Interacts with CEP164. SUBCELLULAR LOCATION: Cell projection, cilium. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus. TISSUE SPECIFICITY: Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung. DISEASE: Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3) [MIM:604387]; also known as adolescent nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. DISEASE: Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]. RHPD is an autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation. DISEASE: Defects in NPHP3 are the cause of Meckel syndrome type 7 (MKS7) [MIM:267010]. It is a form of Meckel syndrome, an autosomal recessive disorder. It is characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. SIMILARITY: Contains 11 TPR repeats. SEQUENCE CAUTION: Sequence=BAB70891.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC02709.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC04268.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7Z494
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
AB082531 - Homo sapiens mRNA for KIAA2000 protein. AY257867 - Homo sapiens nephrocystin 3 splice variant (NPHP3) mRNA, partial cds. BC063277 - Homo sapiens cDNA clone IMAGE:30334133, partial cds. AL832877 - Homo sapiens mRNA; cDNA DKFZp667I223 (from clone DKFZp667I223). CR749498 - Homo sapiens mRNA; cDNA DKFZp781K1312 (from clone DKFZp781K1312). AL832863 - Homo sapiens mRNA; cDNA DKFZp667K242 (from clone DKFZp667K242). AB056657 - Homo sapiens mRNA, possible morphine-related gene. AK093012 - Homo sapiens cDNA FLJ35693 fis, clone SPLEN2019571, weakly similar to KINESIN LIGHT CHAIN. AX747855 - Sequence 1380 from Patent EP1308459. JD482639 - Sequence 463663 from Patent EP1572962. JD435302 - Sequence 416326 from Patent EP1572962. JD249791 - Sequence 230815 from Patent EP1572962. JD148269 - Sequence 129293 from Patent EP1572962. JD463782 - Sequence 444806 from Patent EP1572962. JD478540 - Sequence 459564 from Patent EP1572962. JD543230 - Sequence 524254 from Patent EP1572962. JD537271 - Sequence 518295 from Patent EP1572962. JD148270 - Sequence 129294 from Patent EP1572962. JD463783 - Sequence 444807 from Patent EP1572962. JD478541 - Sequence 459565 from Patent EP1572962. JD543231 - Sequence 524255 from Patent EP1572962. BC131729 - Homo sapiens nephronophthisis 3 (adolescent), mRNA (cDNA clone IMAGE:40124362). AY257864 - Homo sapiens nephrocystin 3 (NPHP3) mRNA, complete cds. AK092910 - Homo sapiens cDNA FLJ35591 fis, clone SPLEN2007647, weakly similar to KINESIN LIGHT CHAIN. AX747803 - Sequence 1328 from Patent EP1308459. AK094015 - Homo sapiens cDNA FLJ36696 fis, clone UTERU2008939, weakly similar to Plectonema boryanum kinesin light chain (KLC) gene. AX748412 - Sequence 1937 from Patent EP1308459. JD045834 - Sequence 26858 from Patent EP1572962. BC172279 - Synthetic construct Homo sapiens clone IMAGE:100068973, MGC:198984 nephronophthisis 3 (adolescent) (NPHP3) mRNA, encodes complete protein. AY257865 - Homo sapiens nephrocystin 3 splice variant (NPHP3) mRNA, partial cds. AK055253 - Homo sapiens cDNA FLJ30691 fis, clone FCBBF2000591, weakly similar to KINESIN LIGHT CHAIN. JD408233 - Sequence 389257 from Patent EP1572962. AY257866 - Homo sapiens nephrocystin 3 splice variant (NPHP3) mRNA, partial cds. AK055893 - Homo sapiens cDNA FLJ31331 fis, clone MAMGL1000056. BC068082 - Homo sapiens nephronophthisis 3 (adolescent), mRNA (cDNA clone IMAGE:6213558), complete cds. KJ902445 - Synthetic construct Homo sapiens clone ccsbBroadEn_11839 NPHP3 gene, encodes complete protein.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q7Z494 (Reactome details) participates in the following event(s):
R-HSA-5624130 Myristoylated NPHP3 translocates into the ciliary membrane R-HSA-5624131 UNC119B binds myristoylated proteins R-HSA-5624133 ARL3:GTP binds the UNC119B complex R-HSA-5624138 Trafficking of myristoylated proteins to the cilium R-HSA-5620920 Cargo trafficking to the periciliary membrane R-HSA-5617833 Cilium Assembly R-HSA-1852241 Organelle biogenesis and maintenance
US Server
