NOS1AP - nitric oxide synthase 1 adaptor protein Gene
Also Known as CAPON; NPHS22; 6330408P19Rik
Species: Homo sapiens
About NOS1AP
This gene has 6 transcripts (splice variants), 220 orthologues, 11 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 5.4), adrenal (RPKM 1.1) and 11 other tissues.
Summary
This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]
NOS1AP Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001126060.2 | NP_001119532.2 | carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 2 |
| NM_001164757.2 | NP_001158229.1 | carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 3 |
| NM_014697.3 | NP_055512.1 | carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in postsynaptic actin cytoskeleton organization |
IDA
IDA: Inferred from direct assay
|
26869880 | GOA |
| involved in postsynaptic actin cytoskeleton organization |
IEP
IEP: Inferred from expression pattern
|
26869880 | GOA |
| involved in postsynaptic actin cytoskeleton organization |
IMP
IMP: Inferred from mutant phenotype
|
26869880 | GOA |
| involved in regulation of heart rate by chemical signal |
IMP
IMP: Inferred from mutant phenotype
|
19247217 | GOA |
| involved in regulation of ventricular cardiac muscle cell membrane repolarization |
IMP
IMP: Inferred from mutant phenotype
|
19247217 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in glutamatergic synapse |
IDA
IDA: Inferred from direct assay
|
26869880 | GOA |
| is active in glutamatergic synapse |
IMP
IMP: Inferred from mutant phenotype
|
26869880 | GOA |
NOS1AP Protein Structure
PID: Phosphotyrosine interaction domain (PTB/PID) (32 - 174)
- 0
- 100
- 200
- 300
- 400
- 506 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein |
|
NOS1AP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NOS1AP | O75052 | FAM133A | Homo sapiens | Q8N9E0 | 25416956 | |
|
Intra
|
NOS1AP | O75052 | FAM133A | Homo sapiens | Q8N9E0 | 25416956 | |
|
Intra
|
NOS1AP | O75052 | FAM133A | Homo sapiens | Q8N9E0 | 25416956 | |
|
Intra
|
NOS1AP | O75052 | TRAF4 | Homo sapiens | Q9BUZ4 | 25416956 | |
|
Intra
|
NOS1AP | O75052 | NKAP | Homo sapiens | Q8N5F7 | 25814554 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Nephrotic Syndrome, Type 22 |
|
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| Paranoid Personality Disorder |
|
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| Long Qt Syndrome 1 |
|
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| Long Qt Syndrome |
|
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| Personality Disorder |
|
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| Acute Ethmoiditis |
|
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| Short Qt Syndrome |
|
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| Long Qt Syndrome 13 |
|
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| Schizophrenia |
|
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| Long Qt Syndrome 2 |
|
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| Sudden Infant Death Syndrome |
|
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| Long Qt Syndrome 3 |
|
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| Bipolar Disorder |
|
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| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
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| Brugada Syndrome |
|
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| Focal Segmental Glomerulosclerosis |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | NOS1AP | VGNC | VGNC:55636 |
| Rattus norvegicus | NOS1AP | RGD | RGD:620106 |
| Mus musculus | NOS1AP | MGD | MGI:1917979 |
| Others | NOS1AP | NCBI |