NOS1AP
Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
Also known as: CAPON, CAPON_HUMAN, KIAA0464
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75052
- Gene
- NOS1AP
- Ensembl
- ENSG00000198929
- Chromosome
- 1
- Canonical length
- 506 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
506 residues, UniProt reviewed canonical sequence.
>O75052|NOS1AP
1 MPSKTKYNLV DDGHDLRIPL HNEDAFQHGI CFEAKYVGSL DVPRPNSRVE IVAAMRRIRY
61 EFKAKNIKKK KVSIMVSVDG VKVILKKKKK LLLLQKKEWT WDESKMLVMQ DPIYRIFYVS
121 HDSQDLKIFS YIARDGASNI FRCNVFKSKK KSQAMRIVRT VGQAFEVCHK LSLQHTQQNA
181 DGQEDGESER NSNSSGDPGR QLTGAERAST ATAEETDIDA VEVPLPGNDV LEFSRGVTDL
241 DAVGKEGGSH TGSKVSHPQE PMLTASPRML LPSSSSKPPG LGTETPLSTH HQMQLLQQLL
301 QQQQQQTQVA VAQVHLLKDQ LAAEAAARLE AQARVHQLLL QNKDMLQHIS LLVKQVQELE
361 LKLSGQNAMG SQDSLLEITF RSGALPVLCD PTTPKPEDLH SPPLGAGLAD FAHPAGSPLG
421 RRDCLVKLEC FRFLPPEDTP PPAQGEALLG GLELIKFRES GIASEYESNT DESEERDSWS
481 QEELPRLLNV LQRQELGDGL DDEIAVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NOS1AP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 16 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 16 nTPM
- cerebral cortex: 14 nTPM
- hippocampal formation: 14 nTPM
- amygdala: 6.5 nTPM
- hypothalamus: 6.4 nTPM
- basal ganglia: 3.9 nTPM
Single-cell type
- bergmann glia: 779 nCPM
- distal convoluted tubule cells: 749 nCPM
- podocytes: 516 nCPM
- renal collecting duct principal cells: 340 nCPM
- choroid plexus epithelial cells: 300 nCPM
- renal connecting tubule cells: 294 nCPM
Immune cell
- neutrophil: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- hippocampal formation: 81 nTPM
- cerebral cortex: 79 nTPM
- white matter: 77 nTPM
- basal ganglia: 67 nTPM
- cerebellum: 50 nTPM
- thalamus: 41 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NOS1AP.
Disease | AllUniProt
Conditions NOS1AP is implicated in, by any mechanism.
- Nephrotic syndrome 22 (NPHS22) MIM:619155
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 123 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Nephrotic syndrome, type 22
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.42
- gnomAD pLI
- 0.61
- gnomAD missense Z
- 2.04
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- nitric oxide biosynthetic process
- positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential
- positive regulation of potassium ion transmembrane transport
- postsynaptic actin cytoskeleton organization
- regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
- regulation of cardiac muscle cell action potential
- regulation of heart rate by chemical signal
- regulation of nitric oxide biosynthetic process
- regulation of ventricular cardiac muscle cell membrane repolarization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NOS1AP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NOS1AP as an antibody target. Whether an autoantibody or antibody against NOS1AP could matter depends on whether native NOS1AP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NOS1AP is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NOS1AP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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