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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NOSIP
nitric oxide synthase interacting protein
Chromosome 19 · 19q13.33
NCBI Gene: 51070Ensembl: ENSG00000142546.14HGNC: HGNC:17946UniProt: A0A075B6F9
87PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingprotein bindingregulation of nitric oxide biosynthetic processnegative regulation of nitric-oxide synthase activityneurodegenerative diseasegenetic disorderhypothyroidismhepatocellular carcinoma
✦AI Summary

NOSIP (nitric oxide synthase interacting protein) is an E3 ubiquitin ligase essential for forebrain, eye, and craniofacial development 1. Its primary function is negative regulation of nitric oxide (NO) production through two mechanisms: it mediates translocation of endothelial NO synthase (eNOS) and neuronal NO synthase (nNOS) to the actin cytoskeleton, inhibiting their enzymatic activity 2, and catalyzes monoubiquitination of protein phosphatase 2A (PP2A) catalytic subunits 1. Nuclear import of NOSIP is mediated primarily by transportin 1, with subsequent cytoplasmic export occurring via passive diffusion 3. NOSIP is critical for developmental neurogenesis; knockout mice exhibit reduced cortical thickness, diminished postmitotic neuron formation, and decreased neural progenitor populations 4. Loss of NOSIP causes holoprosencephaly and craniofacial anomalies including cleft palate and cyclopia 1, and disrupts eye development and anterior neural crest cell induction 5. During neutrophil differentiation, NOSIP expression is downregulated to permit increased NO generation 6. Clinically, elevated NOSIP expression in Hirschsprung's disease colon may contribute to enterocolitis by suppressing local NO production 7. NOSIP emerges as a candidate gene for human holoprosencephaly and other developmental disorders.

Sources cited
1
NOSIP knockout causes holoprosencephaly, facial anomalies, and affects PP2A activity in craniofacial development
PMID: 25546391
2
NOSIP is a negative eNOS interacting protein involved in eNOS regulation and trafficking
PMID: 24180383
3
Transportin 1 is the major nuclear import receptor for NOSIP; NOSIP regulates eNOS by translocation to cytoskeleton
PMID: 36690276
4
Nosip is critical for neural stem cell/progenitor self-renewal and neurogenesis; loss causes microcephaly and reduced neurogenesis in mouse and Xenopus
PMID: 28663132
5
Nosip is required for eye development and anterior neural crest cell induction; deficiency causes retinal lamination defects
PMID: 30055071
6
NOSIP expression is decreased during neutrophil differentiation to permit increased NO generation via nNOS
PMID: 33771575
7
NOSIP is increased in Hirschsprung's disease colon and may inhibit local NO production contributing to enterocolitis
PMID: 28196663
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.12Weak
hypothyroidismOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
prostate carcinomaOpen Targets
0.06Suggestive
prostate cancerOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.06Suggestive
early-onset non-syndromic cataractOpen Targets
0.06Suggestive
holoprosencephalyOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
skin agingOpen Targets
0.06Suggestive
Posterior polar cataractOpen Targets
0.05Suggestive
Total congenital cataractOpen Targets
0.05Suggestive
Partial congenital cataractOpen Targets
0.05Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.05Suggestive
isolated ectopia lentisOpen Targets
0.05Suggestive
Foveal hypoplasia - presenile cataractOpen Targets
0.05Suggestive
Cataract-microcornea syndromeOpen Targets
0.05Suggestive
snowflake vitreoretinal degenerationOpen Targets
0.05Suggestive
cataract 50 with or without glaucomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NOS3Protein interaction99%GCHFRShared pathway33%APBA3Shared pathway25%CAND1Shared pathway25%ZDHHC21Shared pathway14%TMBIM1Shared pathway14%
Tissue Expression6 tissues
Lung
100%
Ovary
98%
Liver
96%
Brain
72%
Heart
67%
Bone Marrow
53%
Gene Interaction Network
Click a node to explore
NOSIPNOS3GCHFRAPBA3CAND1ZDHHC21TMBIM1
PROTEIN STRUCTURE
Preparing viewer…
PDB8C6J · 2.80 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.58–1.13]
RankingsWhere NOSIP stands among ~20K protein-coding genes
  • #5,499of 20,598
    Most Researched87
  • #11,715of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedNOSIP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Transportin 1 is a major nuclear import receptor of the nitric oxide synthase interacting protein.
PMID: 36690276
J Biol Chem · 2023
1.00
2
nNOS induction and NOSIP interaction impact granulopoiesis and neutrophil differentiation by modulating nitric oxide generation.
PMID: 33771575
Biochim Biophys Acta Mol Cell Res · 2021
0.90
3
NOSIP and its interacting protein, eNOS, in the rat trachea and lung.
PMID: 15684328
J Histochem Cytochem · 2005
0.80
4
Developmental neurogenesis in mouse and Xenopus is impaired in the absence of Nosip.
PMID: 28663132
Dev Biol · 2017
0.70
5
The ubiquitin E3 ligase NOSIP modulates protein phosphatase 2A activity in craniofacial development.
PMID: 25546391
PLoS One · 2014
0.60