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NOS1AP (nitric oxide synthase 1 adaptor protein)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9722
Gene nameGene Name - the full gene name approved by the HGNC.
Nitric oxide synthase 1 adaptor protein
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NOS1AP
SynonymsGene synonyms aliases
6330408P19Rik, CAPON, NPHS22
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
SummarySummary 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRY
EFKAKNIKKKKVSIMVSVDGVKVILKKKKKLLLLQKKEWTWDESKMLVMQDPIYRIFYVS
HDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAFEVCHKLSLQH
TQQNA
DGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDL
DAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLL
QQQQQQTQVAVAQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELE
LKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLG
RRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWS
QEELPRLLNVLQRQELGDGLDDEIAV
Sequence length 506
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Circadian entrainment  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 24220657, 20638248, 23212062
Unknown
Disease name Disease term dbSNP ID References
Romano-ward syndrome Romano-Ward Syndrome 20538168, 19822806
Torsades de pointes Torsades de Pointes rs36210421, rs36210419, rs36210415, rs36210416, rs36210420

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