NOS1AP
Nitric Oxide Synthase 1 Adaptor Protein
Gene Information Card
| Symbol | NOS1AP |
|---|---|
| Full Name | Nitric Oxide Synthase 1 Adaptor Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 1q23.3 |
| NCBI Gene ID | 9722 ncbi.nlm.nih.gov/gene/9722 |
| Ensembl ID | ENSG00000198929 |
| UniProt ID | O75052 |
| OMIM ID | 605551 |
| HGNC ID | 16859 |
| Aliases | CAPON, MGC75201 |
Description
NOS1AP (nitric oxide synthase 1 adaptor protein) encodes a cytosolic protein that binds to the signaling molecule nitric oxide synthase 1 (nNOS). It is involved in neuronal signaling, cardiac repolarization, and has been associated with QT interval variation and schizophrenia risk. The gene is expressed in multiple tissues including brain, heart, and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT syndrome | Modulation of cardiac ion channel activity via nNOS interaction | ClinVar, PMID: 16959992 |
| Schizophrenia | Altered neuronal nitric oxide signaling and synaptic plasticity | OMIM, PMID: 18454146 |
| Sudden cardiac death | QT interval prolongation and arrhythmia susceptibility | ClinVar, PMID: 19666836 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Liver | 2.4 | Low |
| Lung | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 3.8 | Embryonic kidney |
| H9c2 | 7.1 | Cardiomyoblast |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs12742393 | SNP | 0.25 (global) | Associated with QT interval prolongation |
| rs10494366 | SNP | 0.35 (global) | Associated with schizophrenia risk |
| c.1A>G | Missense | Rare | Altered protein function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce nNOS binding and disrupt cardiac repolarization.
Gain of Function (GOF)
Not well characterized; some SNPs may increase NOS1AP expression.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cell differentiation (GO:0030154) |
| • modulation of chemical synaptic transmission (GO:0050804) | • regulation of heart rate by cardiac conduction (GO:0086091) |
Pathways
• Nitric oxide signaling pathway
• Cardiac conduction
• Glutamatergic synapse
Protein Summary
NOS1AP is a 503-amino acid adaptor protein that interacts with neuronal nitric oxide synthase (nNOS) via its PDZ domain. It regulates nNOS localization and activity, influencing nitric oxide production. In the heart, it modulates ion channel function and cardiac repolarization. In the brain, it is involved in synaptic signaling and has been linked to schizophrenia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOS1AP Knockout HEK293 Cell Line | EDJ-KQ6717 | Human | 9722 | Details Get a Quote |
| NOS1AP Knockout HCT 116 Cell Line | EDJ-KQ31093 | Human | 9722 | Details Get a Quote |
| NOS1AP Knockout HeLa Cell Line | EDJ-KQ55237 | Human | 9722 | Details Get a Quote |
| NOS1AP Knockout A-549 Cell Line | EDJ-KQ63718 | Human | 9722 | Details Get a Quote |
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