NOSTRIN
Nitric Oxide Synthase Trafficking Inducer
Gene Information Card
| Symbol | NOSTRIN |
|---|---|
| Full Name | Nitric Oxide Synthase Trafficking Inducer |
| Gene Type | Protein coding |
| Chromosomal Location | 2q24.3 |
| NCBI Gene ID | 115677 ncbi.nlm.nih.gov/gene/115677 |
| Ensembl ID | ENSG00000163069 |
| UniProt ID | Q8IVI9 |
| OMIM ID | 609151 |
| HGNC ID | 19899 |
| Aliases | eNOS trafficking inducer, NOSTRIN, FLJ12529 |
Description
NOSTRIN (Nitric Oxide Synthase Trafficking Inducer) encodes a protein that interacts with endothelial nitric oxide synthase (eNOS) and regulates its subcellular localization and activity. The protein contains a spectrin-like repeat and a SH3 domain, and is involved in vesicular trafficking of eNOS from the plasma membrane to intracellular compartments, thereby modulating nitric oxide production. NOSTRIN is expressed in various tissues, with highest levels in heart, placenta, and lung.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered eNOS trafficking and reduced nitric oxide bioavailability | PMID: 15689499 |
| Atherosclerosis | Impaired eNOS localization leading to endothelial dysfunction | PMID: 15689499 |
| Preeclampsia | Dysregulated NOSTRIN expression affecting placental nitric oxide signaling | PMID: 19535604 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Placenta | 10.8 | Medium |
| Lung | 9.5 | Medium |
| Kidney | 6.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 15.2 | Endothelial cell line, high expression |
| HEK293 | 4.8 | Low expression |
| HeLa | 2.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional effect |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • SH3 domain binding |
| • vesicle-mediated transport | • nitric oxide biosynthetic process |
| • intracellular protein transport |
Pathways
• eNOS trafficking pathway
• Nitric oxide signaling pathway
Protein Summary
The NOSTRIN protein (UniProt Q8IVI9) is 506 amino acids long and contains an N-terminal spectrin-like repeat and a C-terminal SH3 domain. It functions as a trafficking inducer for endothelial nitric oxide synthase (eNOS), facilitating its internalization from the plasma membrane to perinuclear compartments. This regulation is critical for controlling nitric oxide production and endothelial function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOSTRIN Knockout HEK293 Cell Line | EDJ-KQ7528 | Human | 115677 | Details Get a Quote |
| NOSTRIN Knockout A-549 Cell Line | EDJ-KQ32806 | Human | 115677 | Details Get a Quote |
| NOSTRIN Knockout HCT 116 Cell Line | EDJ-KQ32807 | Human | 115677 | Details Get a Quote |
| NOSTRIN Knockout HeLa Cell Line | EDJ-KQ32808 | Human | 115677 | Details Get a Quote |
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