Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9722
Gene name Gene Name - the full gene name approved by the HGNC.
Nitric oxide synthase 1 adaptor protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NOS1AP
Synonyms (NCBI Gene) Gene synonyms aliases
6330408P19Rik, CAPON, NPHS22
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NPHS22
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003062 Process Regulation of heart rate by chemical signal IMP 19247217
GO:0005515 Function Protein binding IPI 25416956
GO:0005634 Component Nucleus ISS 24665357
GO:0005739 Component Mitochondrion ISS 19800018
GO:0005829 Component Cytosol ISS 24665357
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605551 16859 ENSG00000198929
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
24220657, 20638248, 23212062
Unknown
Disease term Disease name Evidence References Source
Torsades de pointes Torsades de Pointes ClinVar
Nephrotic Syndrome nephrotic syndrome, type 22 GenCC
Long QT Syndrome Long QT Syndrome GWAS
Associations from Text Mining
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