• Gene id: 27031

Gene Summary

• Gene Symbol: NPHP3   Gene   UCSC   Ensembl
• Aliases: CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
• Gene name: nephrocystin 3
• Alternate names: nephrocystin-3, Meckel syndrome, type 7, cilia and flagella associated protein 31, nephronophthisis 3 (adolescent),
• Gene location: 3q22.1 (132722408: 132680608)     Exons: 27     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 602386

Protein Summary

• Protein general information: Q7Z494  
  • Name: Nephrocystin 3
  • Length: 1330  
  • Mass: 150864
  • 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. {ECO
• Sequence:

  MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSLPRGVGAGGLLGASFK
  STGSSVPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLDTENKRLRAELQALQKTYQKILREKESALEA
  KYQAMERAATFEHDRDKVKRQFKIFRETKENEIQDLLRAKRELESKLQRLQAQGIQVFDPGESDSDDNCTDVTAA
  GTQCEYWTGGALGSEPSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIAVASLLQVTPLFSHSLWSNTV
  RCYLIYTDETQPEMDLFLKDYSPKLKRMCETMGYFFHAVYFPIDVENQYLTVRKWEIEKSSLVILFIHLTLPSLL
  LEDCEEAFLKNPEGKPRLIFHRLEDGKVSSDSVQQLIDQVSNLNKTSKAKIIDHSGDPAEGVYKTYICVEKIIKQ
  DILGFENTDLETKDLGSEDSIPEEDDFGDVLWDIHDEQEQMETFQQASNSAHELGFEKYYQRLNDLVAAPAPIPP
  LLVSGGPGSGKSLLLSKWIQLQQKNSPNTLILSHFVGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLL
  EEFPRWLEKLSARHQGSIIIVIDSIDQVQQVEKHMKWLIDPLPVNVRVIVSVNVETCPPAWRLWPTLHLDPLSPK
  DAKSIIIAECHSVDIKLSKEQEKKLERHCRSATTCNALYVTLFGKMIARAGRAGNLDKILHQCFQCQDTLSLYRL
  VLHSIRESMANDVDKELMKQILCLVNVSHNGVSESELMELYPEMSWTFLTSLIHSLYKMCLLTYGCGLLRFQHLQ
  AWETVRLEYLEGPTVTSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQKLHDCLLNLFVSQNLYKRGH
  FAELLSYWQFVGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLSQAIVPLQRSLEIRET
  ALDPDHPRVAQSLHQLASVYVQWKKFGNAEQLYKQALEISENAYGADHPYTARELEALATLYQKQNKYEQAEHFR
  KKSFKIHQKAIKKKGNLYGFALLRRRALQLEELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSLEMRER
  VLGPDHPDCAQSLNNLAALCNEKKQYDKAEELYERALDIRRRALAPDHPSLAYTVKHLAILYKKMGKLDKAVPLY
  ELAVEIRQKSFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRVGETLKNLAVLSYEGG
  DFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQR

• Structural information:
  • Interpro: IPR027417  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • PDB: 5L7K
  • PDBsum: 5L7K
  • STRING: ENSP00000338766
• Other Databases: GeneCards:  NPHP3  Malacards:  NPHP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048496	maintenance of animal organ identity	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0005929	cilium	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IC	biological process
GO:2000167	regulation of planar cell polarity pathway involved in neural tube closure	IC	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001947	heart looping	IMP	biological process
GO:0001947	heart looping	IMP	biological process
GO:0003283	atrial septum development	IMP	biological process
GO:0060027	convergent extension involved in gastrulation	IGI	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0071909	determination of stomach left/right asymmetry	IMP	biological process
GO:0071910	determination of liver left/right asymmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0030324	lung development	IMP	biological process
GO:0035469	determination of pancreatic left/right asymmetry	IMP	biological process
GO:0060993	kidney morphogenesis	IMP	biological process
GO:0071908	determination of intestine left/right asymmetry	IMP	biological process
GO:0072189	ureter development	IMP	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048496	maintenance of animal organ identity	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IDA	biological process
GO:0005929	cilium	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0060271	cilium assembly	ISS	biological process
GO:2000095	regulation of Wnt signaling pathway, planar cell polarity pathway	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005929	cilium	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060287	epithelial cilium movement involved in determination of left/right asymmetry	IC	biological process
GO:2000167	regulation of planar cell polarity pathway involved in neural tube closure	IC	biological process
GO:0001822	kidney development	IMP	biological process
GO:0001947	heart looping	IMP	biological process
GO:0001947	heart looping	IMP	biological process
GO:0003283	atrial septum development	IMP	biological process
GO:0060027	convergent extension involved in gastrulation	IGI	biological process
GO:0060271	cilium assembly	ISS	biological process
GO:0071909	determination of stomach left/right asymmetry	IMP	biological process
GO:0071910	determination of liver left/right asymmetry	IMP	biological process
GO:0007368	determination of left/right symmetry	IMP	biological process
GO:0030324	lung development	IMP	biological process
GO:0035469	determination of pancreatic left/right asymmetry	IMP	biological process
GO:0060993	kidney morphogenesis	IMP	biological process
GO:0071908	determination of intestine left/right asymmetry	IMP	biological process
GO:0072189	ureter development	IMP	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Meckel syndrome	KEGG:H00261
Renal-hepatic-pancreatic dysplasia	KEGG:H00543
Nephronophthisis	KEGG:H00537
Meckel syndrome	KEGG:H00261
Renal-hepatic-pancreatic dysplasia	KEGG:H00543
Nephronophthisis	PMID:12872122
nephronophthisis	PMID:17855640
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881