NOSIP (Nitric Oxide Synthase Interacting Protein) Gene
Gene encoding a protein that modulates nitric oxide synthase activity and cellular signaling.
Gene Information Card
| Symbol | NOSIP |
|---|---|
| Full Name | Nitric Oxide Synthase Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 51070 ncbi.nlm.nih.gov/gene/51070 |
| Ensembl ID | ENSG00000105699 |
| UniProt ID | Q9Y314 |
| OMIM ID | 609829 |
| HGNC ID | 17971 |
| Aliases | CGI-38, HSPC126, MSTP058, NOSIP1 |
Description
The NOSIP gene encodes a protein that interacts with nitric oxide synthase (NOS) and modulates its activity. It is involved in cellular signaling pathways, including those related to nitric oxide production, and may play a role in vascular function and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered NOSIP expression may affect nitric oxide signaling, influencing tumor progression. | PMID: 23455478 |
| Breast cancer | NOSIP overexpression correlates with poor prognosis; potential role in metastasis. | PMID: 25636874 |
| Cardiovascular disease | NOSIP modulates eNOS activity, impacting endothelial function and blood pressure regulation. | PMID: 14561758 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 15.2 | Medium |
| Liver | 6.1 | Low |
| Kidney | 10.8 | Medium |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.7 | High expression |
| HeLa | 9.2 | Moderate expression |
| MCF7 | 11.5 | Moderate expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.01% | Unknown functional impact |
| c.412C>T (p.Pro138Ser) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| c.523_524insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • protein kinase binding (GO:0019901) |
| • enzyme regulator activity (GO:0030234) | • neuronal cell body (GO:0043025) |
Pathways
• Nitric oxide signaling pathway
• eNOS activation and regulation
Protein Summary
The NOSIP protein (UniProt Q9Y314) is a 301-amino acid cytoplasmic protein that interacts with endothelial nitric oxide synthase (eNOS). It modulates eNOS activity by promoting its translocation from the plasma membrane to intracellular sites, thereby reducing nitric oxide production. NOSIP is expressed in multiple tissues and is implicated in cardiovascular function and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOSIP Knockout HEK293 Cell Line | EDJ-KQ10901 | Human | 51070 | Details Get a Quote |
| NOSIP Knockout A-549 Cell Line | EDJ-KQ38611 | Human | 51070 | Details Get a Quote |
| NOSIP Knockout HCT 116 Cell Line | EDJ-KQ38612 | Human | 51070 | Details Get a Quote |
| NOSIP Knockout HeLa Cell Line | EDJ-KQ38613 | Human | 51070 | Details Get a Quote |
