Gene Gene information from NCBI Gene database.
Entrez ID 9722
Gene name Nitric oxide synthase 1 adaptor protein
Gene symbol NOS1AP
Synonyms (NCBI Gene)
6330408P19RikCAPONNPHS22
Chromosome 1
Chromosome location 1q23.3
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
miRNA miRNA information provided by mirtarbase database.
326
miRTarBase ID miRNA Experiments Reference
MIRT044525 hsa-miR-320a CLASH 23622248
MIRT038020 hsa-miR-423-5p CLASH 23622248
MIRT619425 hsa-miR-8485 HITS-CLIP 23824327
MIRT619424 hsa-miR-329-3p HITS-CLIP 23824327
MIRT619423 hsa-miR-362-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0003062 Process Regulation of heart rate by chemical signal IMP 19247217
GO:0005515 Function Protein binding IPI 25416956, 25814554, 28514442, 33961781
GO:0005634 Component Nucleus ISS 24665357
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605551 16859 ENSG00000198929
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75052
Protein name Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein (C-terminal PDZ ligand of neuronal nitric oxide synthase protein) (Nitric oxide synthase 1 adaptor protein)
Protein function Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an in
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00640 PID 32 175 Phosphotyrosine interaction domain (PTB/PID) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney glomeruli podocytes. {ECO:0000269|PubMed:33523862}.
Sequence
MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRY
EFKAKNIKKKKVSIMVSVDGVKVILKKKKKLLLLQKKEWTWDESKMLVMQDPIYRIFYVS
HDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAFEVCHKLSLQH
TQQNA
DGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDL
DAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLL
QQQQQQTQVAVAQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELE
LKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLG
RRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWS
QEELPRLLNVLQRQELGDGLDDEIAV
Sequence length 506
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Circadian entrainment  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nephrotic syndrome, type 22 Pathogenic rs1656826074, rs908210610 RCV001290108
RCV001290109
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiac arrhythmia Benign; Likely benign rs77473623 RCV001841538
Colon adenocarcinoma Conflicting classifications of pathogenicity rs771956293 RCV005922434
Long QT syndrome Uncertain significance rs796052202, rs796052201 RCV000190226
RCV000190225
NOS1AP-related disorder Uncertain significance; Likely benign rs1463885272, rs142303407 RCV003404298
RCV003975680
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 19305409, 19822806, 20538168, 21685173, 22682551
Autism Spectrum Disorder Associate 20602773
Bipolar Disorder Associate 16146415
Carcinogenesis Associate 27869735
Cardiovascular Diseases Associate 26600494
Cognition Disorders Associate 28755516
Coronary Artery Disease Associate 21685173
Coronary Disease Associate 23171141
Death Associate 26146998
Death Sudden Associate 19822806, 21685173, 23171141, 30878014