NOSIP (nitric oxide synthase interacting protein)

Gene

• Entrez ID: 51070
• Gene name: Nitric oxide synthase interacting protein
• Gene symbol: NOSIP
• Synonyms (NCBI Gene): CGI-25
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016289	hsa-miR-193b-3p	Proteomics	21512034
MIRT022321	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT440102	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440102	hsa-miR-218-5p	HITS-CLIP	23212916

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005515	Function	Protein binding	IPI	11149895, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15548660
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	15548660
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0043086	Process	Negative regulation of catalytic activity	IDA	11149895
GO:0045428	Process	Regulation of nitric oxide biosynthetic process	IMP	15548660
GO:0046209	Process	Nitric oxide metabolic process	TAS
GO:0051001	Process	Negative regulation of nitric-oxide synthase activity	IDA	11149895
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0140313	Function	Molecular sequestering activity	EXP	11149895
GO:0140313	Function	Molecular sequestering activity	IPI	15548660
GO:0140313	Function	Molecular sequestering activity	TAS

Other IDs

• MIM: 616759
• HGNC: 17946
• e!Ensembl: ENSG00000142546

Protein

• UniProt ID: Q9Y314
• Protein 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)
• Protein function: E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye, and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (By similarity). Negativ
• PDB: 8C6J, 9FMD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15906	zf-NOSIP	4 → 78	Zinc-finger of nitric oxide synthase-interacting protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in heart, brain and lung. Present in endothelial cells (at protein level). {ECO:0000269|PubMed:11149895}.
• Sequence:

  MTRHGKNCTAGAVYTYHEKKKDTAASGYGTQNIRLSRDAVKDFDCCCLSLQPCHDPVVTP
  DGYLYEREAILEYILHQKKEIARQMKAYEKQRGTRREEQKELQRAASQDHVRGFLEKESA
  IVSRPLNPFTAKALSGTSPDDVQPGPSVGPPSKDKDKVLPSFWIPSLTPEAKATKLEKPS
  RTVTCPMSGKPLRMSDLTPVHFTPLDSSVDRVGLITRSERYVCAVTRDSLSNATPCAVLR
  PSGAVVTLECVEKLIRKDMVDPVTGDKLTDRDIIVLQRGGTGFAGSGVKLQAEKSRPVMQ
  A

• Sequence length: 301

Pathways

Reactome:

NOSIP mediated eNOS trafficking

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Atherosclerosis	Associate	33782480	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	28850114	★☆☆☆☆ Found in Text Mining only