• Gene id: 51070

Gene Summary

• Gene Symbol: NOSIP   Gene   UCSC   Ensembl
• Aliases: CGI-25
• Gene name: nitric oxide synthase interacting protein
• Alternate names: nitric oxide synthase-interacting protein, E3 ubiquitin-protein ligase NOSIP, RING-type E3 ubiquitin transferase NOSIP, eNOS-interacting protein,
• Gene location: 19q13.33 (49580571: 49555467)     Exons: 1     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene may modulate the activity and localization of nitric oxide synthase (endothelial and neuronal) and thus nitric oxide production. Alternative splicing results in multiple transcript variants that encode the same protein. [p
• OMIM: 616759

Protein Summary

• Protein general information: Q9Y314  
  • Name: Nitric oxide synthase interacting protein (E3 ubiquitin protein ligase NOSIP) (EC 2.3.2.27) (RING type E3 ubiquitin transferase NOSIP) (eNOS interacting protein)
  • Length: 301  
  • Mass: 33172
  • Tissue specificity: Expressed in heart, brain and lung. Present in endothelial cells (at protein level). {ECO
• Sequence:

  MTRHGKNCTAGAVYTYHEKKKDTAASGYGTQNIRLSRDAVKDFDCCCLSLQPCHDPVVTPDGYLYEREAILEYIL
  HQKKEIARQMKAYEKQRGTRREEQKELQRAASQDHVRGFLEKESAIVSRPLNPFTAKALSGTSPDDVQPGPSVGP
  PSKDKDKVLPSFWIPSLTPEAKATKLEKPSRTVTCPMSGKPLRMSDLTPVHFTPLDSSVDRVGLITRSERYVCAV
  TRDSLSNATPCAVLRPSGAVVTLECVEKLIRKDMVDPVTGDKLTDRDIIVLQRGGTGFAGSGVKLQAEKSRPVMQ
  A

• Structural information:
  • Interpro: IPR016818  IPR031790  IPR013083  
  • STRING: ENSP00000470034
• Other Databases: GeneCards:  NOSIP  Malacards:  NOSIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0061630	ubiquitin protein ligase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0051001	negative regulation of nitric-oxide synthase activity	IDA	biological process
GO:0043086	negative regulation of catalytic activity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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