• Gene id: 261734

Gene Summary

• Gene Symbol: NPHP4   Gene   UCSC   Ensembl
• Aliases: POC10, SLSN4
• Gene name: nephrocystin 4
• Alternate names: nephrocystin-4, POC10 centriolar protein homolog, nephroretinin,
• Gene location: 1p36.31 (5992472: 5862807)     Exons: 36     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are ass
• OMIM: 607215

Protein Summary

• Protein general information: O75161  
  • Name: Nephrocystin 4 (Nephroretinin)
  • Length: 1426  
  • Mass: 157,598
• Sequence:

  MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHFFGRTW
  KTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQPDSPISASQDK
  RLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSGLQQIPGLLPAHGESG
  DALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGALEILERRLRVGVHNGLGFVQR
  PQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVGHPAFAVIFQLEYVFSSPAGVDGNAA
  SVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHCLVYKVPSASMSSEEVKQVESGTLRFQFSLG
  SEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVLAAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQ
  LPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVLETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVL
  LQSSGFPEILDANKQPAEAVSATEPVTFNPQKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRF
  PPATTPRLQLVQLDEAGQPSSGALTHILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQID
  VWDGDSLLLIGSAAVQMKHLLRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTL
  ANVGHPCEQKVRGCSTLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKG
  PQDVSRESDATRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAI
  TTEHTLHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQ
  LYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLCLTVEL
  QPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGEPRDIFLKVAS
  GPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRKVRAFTSHPQELKTDP
  KGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLISKAFEIMLAAGEGKGVNKRI
  TYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVGEEEILIYINDHEDKNEEAFCVKVIY
  Q

• Structural information:
  • Interpro: IPR029775  
  • STRING: ENSP00000367398
• Other Databases: GeneCards:  NPHP4  Malacards:  NPHP4

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:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
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:0005923	bicellular tight junction	IEA	cellular component
GO:0007165	signal transduction	NAS	biological process
GO:0007632	visual behavior	NAS	biological process
GO:0016020	membrane	IC	cellular component
GO:0016337	single organismal cell-cell adhesion	NAS	biological process
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0035329	hippo signaling	TAS	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0097470	ribbon synapse	IEA	cellular component
GO:0097546	ciliary base	IEA	cellular component
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:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005829	cytosol	TAS	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:0005856	cytoskeleton	IEA	cellular component
GO:0005911	cell-cell junction	IDA	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:0007165	signal transduction	NAS	biological process
GO:0007632	visual behavior	NAS	biological process
GO:0016020	membrane	IC	cellular component
GO:0016337	single organismal cell-cell adhesion	NAS	biological process
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0035329	hippo signaling	TAS	biological process
GO:0035845	photoreceptor cell outer segment organization	IEA	biological process
GO:0035869	ciliary transition zone	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0097470	ribbon synapse	IEA	cellular component
GO:0097546	ciliary base	IEA	cellular component
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:0005813	centrosome	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
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:0007632	visual behavior	NAS	biological process
GO:0016020	membrane	IC	cellular component
GO:0016337	single organismal cell-cell adhesion	NAS	biological process
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0035329	hippo signaling	TAS	biological process

Diseases

Associated diseases	References
Kidney diseases	GAD: 15776426
Male factor infertility	MIK: 23574405
Senior-Loken syndrome	KEGG: H00538
Nephronophthisis	OMIM: 607215
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 23574405
Male mutants are sterile and show reduced sperm motility and epididymal sperm counts	MIK: 21078623
Sperm morphological defects	MIK: 29713536
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23574405	Male infertility				Male infertility
21078623	Male mutants are sterile and show reduced sperm motility and epididymal sperm counts				Male infertility
29713536	Sperm morphological defects	c.2044C?>?T (p.R682*)			Male infertility	NGS
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq