• Gene id: 4867

Gene Summary

• Gene Symbol: NPHP1   Gene   UCSC   Ensembl
• Aliases: JBTS4, NPH1, SLSN1
• Gene name: nephrocystin 1
• Alternate names: nephrocystin-1, juvenile nephronophthisis 1 protein, nephronophthisis 1 (juvenile),
• Gene location: 2q13 (110205061: 110123335)     Exons: 23     NC_000002.12
• Gene summary(Entrez): This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as
• OMIM: 607100

Protein Summary

• Protein general information: O15259  
  • Name: Nephrocystin 1 (Juvenile nephronophthisis 1 protein)
  • Length: 732  
  • Mass: 83,299
• Sequence:

  MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPV
  ANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEVGAPTEEEEESESEDSEDSGGEEEDAEEEEEEKEENESHK
  WSTGEEYIAVGDFTAQQVGDLTFKKGEILLVIEKKPDGWWIAKDAKGNEGLVPRTYLEPYSEEEEGQESSEEGSE
  EDVEAVDETADGAEVKQRTDPHWSAVQKAISEAGIFCLVNHVSFCYLIVLMRNRMETVEDTNGSETGFRAWNVQS
  RGRIFLVSKPVLQINTVDVLTTMGAIPAGFRPSTLSQLLEEGNQFRANYFLQPELMPSQLAFRDLMWDATEGTIR
  SRPSRISLILTLWSCKMIPLPGMSIQVLSRHVRLCLFDGNKVLSNIHTVRATWQPKKPKTWTFSPQVTRILPCLL
  DGDCFIRSNSASPDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVD
  PSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQ
  STDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWA
  EEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV

• Structural information:
  • Protein Domains: SH3. (152-212)
  • Interpro: IPR030642  IPR036028  IPR001452  
  • Prosite: PS50002
  • CDD: cd11770
  • PDB: 1S1N
  • PDBsum: 1S1N
  • STRING: ENSP00000313169
• Other Databases: GeneCards:  NPHP1  Malacards:  NPHP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005198	structural molecule activity	NAS	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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0007632	visual behavior	NAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0016337	single organismal cell-cell adhesion	NAS	biological process
GO:0030030	cell projection organization	ISS	biological process
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0031514	motile cilium	IDA	cellular component
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0048515	spermatid differentiation	ISS	biological process
GO:0060041	retina development in camera-type eye	ISS	biological process
GO:0005198	structural molecule activity	NAS	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: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:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007588	excretion	TAS	biological process
GO:0007632	visual behavior	NAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0016337	single organismal cell-cell adhesion	NAS	biological process
GO:0030030	cell projection organization	ISS	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0031514	motile cilium	IDA	cellular component
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0048515	spermatid differentiation	ISS	biological process
GO:0060041	retina development in camera-type eye	ISS	biological process
GO:0005198	structural molecule activity	NAS	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: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:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0007632	visual behavior	NAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0016337	single organismal cell-cell adhesion	NAS	biological process
GO:0030030	cell projection organization	ISS	biological process
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0031514	motile cilium	IDA	cellular component
GO:0032391	photoreceptor connecting cilium	ISS	cellular component
GO:0048515	spermatid differentiation	ISS	biological process
GO:0060041	retina development in camera-type eye	ISS	biological process

Diseases

Associated diseases	References
Hyperparathyroidism	GAD: 20424473
Choroidal neovascularization	GAD: 20981449
Male factor infertility	MIK: 26166670
Unexplained azoospermia	MIK: 26662397
Spermatogenesis defects	MIK: 26662397
Joubert syndrome nephronophthisis	GAD: 17409309
Senior-Loken syndrome	OMIM: 607100
Nephritis	GAD: 16762963
Nephronophthisis	KEGG: H00537
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 26166670
Male infertility due to defects in sperm morphogenesis	MIK: 18684731
Spermatogenic defects	MIK: 31037746
Azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26166670	Male infertility	ADA1 G22 A		400 (200 fertile men, 200 infertile men)	Male infertility
26198798	Male infertility			126 (23 normozoospermic samples, 103 infertile samples)	Male infertility	NPHP1
18684731	Male infertility due to defects in sperm morphogenesis				Male infertility
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R