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Aliases for NOS1AP Gene

Aliases for NOS1AP Gene

  • Nitric Oxide Synthase 1 Adaptor Protein 2 3 4 5
  • C-Terminal PDZ Ligand Of Neuronal Nitric Oxide Synthase Protein 3 4
  • Nitric Oxide Synthase 1 (Neuronal) Adaptor Protein 2 3
  • CAPON 3 4
  • Ligand Of Neuronal Nitric Oxide Synthase With Carboxyl-Terminal PDZ Domain 3
  • C-Terminal PDZ Domain Ligand Of Neuronal Nitric Oxide Synthase (CAPON) 3
  • Carboxyl-Terminal PDZ Ligand Of Neuronal Nitric Oxide Synthase Protein 3
  • C-Terminal PDZ Domain Ligand Of Neuronal Nitric Oxide Synthase 2
  • 6330408P19Rik 3
  • KIAA0464 4

External Ids for NOS1AP Gene

Previous GeneCards Identifiers for NOS1AP Gene

  • GC01P158772
  • GC01P160306
  • GC01P162039
  • GC01P133284

Summaries for NOS1AP Gene

Entrez Gene Summary for NOS1AP 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]

GeneCards Summary for NOS1AP Gene

NOS1AP (Nitric Oxide Synthase 1 Adaptor Protein) is a Protein Coding gene. Diseases associated with NOS1AP include Long Qt Syndrome 1 and Schizophrenia. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Circadian entrainment. GO annotations related to this gene include nitric-oxide synthase binding. An important paralog of this gene is ENSG00000254706.

UniProtKB/Swiss-Prot for NOS1AP Gene

  • 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 indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity).

Gene Wiki entry for NOS1AP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOS1AP Gene

Genomics for NOS1AP Gene

Regulatory Elements for NOS1AP Gene

Enhancers for NOS1AP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G162283 0.8 ENCODE 7.5 +215.1 215085 2.3 PKNOX1 ESRRA NFIB SAP130 SIN3A THRB RAD21 RARA CTBP1 ZNF316 C1orf226 NOS1AP ENSG00000227094 LOC105371475
GH01G162371 1 ENCODE 4.3 +303.3 303286 3.7 PKNOX1 ATF1 ARNT YY1 TCF12 ZNF766 ELK1 GATA2 FOS KLF13 SPATA46 DUSP12 C1orf226 NOS1AP
GH01G162716 0.7 FANTOM5 dbSUPER 3 +645.8 645791 0.0 TCF7 JUNB NOS1AP RN7SL861P DDR2
GH01G162246 1.3 FANTOM5 ENCODE 1.5 +177.6 177631 1.9 FOXA2 ATF1 MLX ARID4B FEZF1 ZNF48 YY1 ZNF143 ZNF263 SP5 ENSG00000227094 SH2D1B C1orf226 SPATA46 NOS1AP LOC105371475
GH01G162488 0.5 FANTOM5 2.5 +418.7 418745 0.3 PKNOX1 MYNN ZNF512 UHMK1 SLAMF6P1 NOS1AP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NOS1AP on UCSC Golden Path with GeneCards custom track

Promoters for NOS1AP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014797 209 1601 ARID4B SIN3A GLIS2 KLF7 ZNF263 SP3 SP5 SMARCB1 KAT8 GLIS1

Genomic Location for NOS1AP Gene

Chromosome:
1
Start:
162,069,774 bp from pter
End:
162,370,475 bp from pter
Size:
300,702 bases
Orientation:
Plus strand

Genomic View for NOS1AP Gene

Genes around NOS1AP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOS1AP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOS1AP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOS1AP Gene

Proteins for NOS1AP Gene

  • Protein details for NOS1AP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75052-CAPON_HUMAN
    Recommended name:
    Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein
    Protein Accession:
    O75052
    Secondary Accessions:
    • B7ZLF5
    • O43564
    • Q3T551
    • Q5VU95

    Protein attributes for NOS1AP Gene

    Size:
    506 amino acids
    Molecular mass:
    56150 Da
    Quaternary structure:
    • Interacts with the PDZ domain of NOS1 or the second PDZ domain of DLG4 through its C-terminus. Interacts with RASD1 and SYN1, SYN2 and SYN3 via its PID domain. Forms a ternary complex with NOS1 and RASD1. Forms a ternary complex with NOS1 and SYN1 (By similarity).
    SequenceCaution:
    • Sequence=BAA32309.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NOS1AP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOS1AP Gene

Post-translational modifications for NOS1AP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NOS1AP Gene

No data available for DME Specific Peptides for NOS1AP Gene

Domains & Families for NOS1AP Gene

Protein Domains for NOS1AP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NOS1AP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NOS1AP: view

No data available for Gene Families and UniProtKB/Swiss-Prot for NOS1AP Gene

Function for NOS1AP Gene

Molecular function for NOS1AP Gene

UniProtKB/Swiss-Prot 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 indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity).

Gene Ontology (GO) - Molecular Function for NOS1AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0050998 nitric-oxide synthase binding ISS 9459447
genes like me logo Genes that share ontologies with NOS1AP: view
genes like me logo Genes that share phenotypes with NOS1AP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NOS1AP Gene

Localization for NOS1AP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOS1AP gene
Compartment Confidence
mitochondrion 3
nucleus 3
endoplasmic reticulum 3
cytosol 3

Gene Ontology (GO) - Cellular Components for NOS1AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS 24665357
GO:0005739 mitochondrion ISS 19800018
GO:0005829 cytosol ISS 24665357
GO:0005901 colocalizes_with caveola ISS 19800018
GO:0030018 Z disc ISS 19800018
genes like me logo Genes that share ontologies with NOS1AP: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NOS1AP Gene

Pathways & Interactions for NOS1AP Gene

genes like me logo Genes that share pathways with NOS1AP: view

Pathways by source for NOS1AP Gene

1 KEGG pathway for NOS1AP Gene
1 Qiagen pathway for NOS1AP Gene

Gene Ontology (GO) - Biological Process for NOS1AP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003062 regulation of heart rate by chemical signal IMP 19247217
GO:0010628 positive regulation of gene expression ISS 18337493
GO:0010750 positive regulation of nitric oxide mediated signal transduction ISS 18337493
GO:0042981 regulation of apoptotic process NAS 20431962
GO:0045428 regulation of nitric oxide biosynthetic process NAS 20431962
genes like me logo Genes that share ontologies with NOS1AP: view

No data available for SIGNOR curated interactions for NOS1AP Gene

Drugs & Compounds for NOS1AP Gene

(8) Drugs for NOS1AP Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiodarone Approved, Investigational Pharma Pore Blocker 122
Dolasetron Approved Pharma 8
Granisetron Approved, Investigational Pharma Serotonin 5-HT3 receptor antagonist 72
Repaglinide Approved, Investigational Pharma Kir6 (KATP) channel blocker 51
Verapamil Approved Pharma Channel blocker 130
genes like me logo Genes that share compounds with NOS1AP: view

Transcripts for NOS1AP Gene

Unigene Clusters for NOS1AP Gene

Nitric oxide synthase 1 (neuronal) adaptor protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NOS1AP Gene

No ASD Table

Relevant External Links for NOS1AP Gene

GeneLoc Exon Structure for
NOS1AP
ECgene alternative splicing isoforms for
NOS1AP

Expression for NOS1AP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NOS1AP Gene

Protein differential expression in normal tissues from HIPED for NOS1AP Gene

This gene is overexpressed in Fetal testis (24.7), Retina (18.8), Fetal Liver (10.3), and Spinal cord (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NOS1AP Gene



NURSA nuclear receptor signaling pathways regulating expression of NOS1AP Gene:

NOS1AP

SOURCE GeneReport for Unigene cluster for NOS1AP Gene:

Hs.731942

Evidence on tissue expression from TISSUES for NOS1AP Gene

  • Nervous system(4.4)
  • Liver(4.1)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NOS1AP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
Organs:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
General:
  • blood
  • blood vessel
  • red blood cell
genes like me logo Genes that share expression patterns with NOS1AP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NOS1AP Gene

Orthologs for NOS1AP Gene

This gene was present in the common ancestor of animals.

Orthologs for NOS1AP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOS1AP 35
  • 100 (a)
OneToOne
LOC101058258 34
  • 99.48 (n)
mouse
(Mus musculus)
Mammalia Nos1ap 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NOS1AP 34 35
  • 93.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 82 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 55 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NOS1AP 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves NOS1AP 34
  • 80.24 (n)
-- 35
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 43 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.30504 34
zebrafish
(Danio rerio)
Actinopterygii nos1apa 35
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG42673 35
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyc-1 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 56 (a)
OneToMany
Species where no ortholog for NOS1AP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for NOS1AP Gene

ENSEMBL:
Gene Tree for NOS1AP (if available)
TreeFam:
Gene Tree for NOS1AP (if available)

Paralogs for NOS1AP Gene

Paralogs for NOS1AP Gene

genes like me logo Genes that share paralogs with NOS1AP: view

Variants for NOS1AP Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NOS1AP Gene

CAPON_HUMAN-O75052
Genetic variation in NOS1AP influences the electrocardiographic QT interval [MIM:610141]. The QT interval is defined as the time from the beginning of the Q wave to the end of the T wave, representing the duration of ventricular electrical activity. The QT interval, a measure of cardiac repolarization, is a genetically influenced quantitative trait with considerable medical relevance: both high and low values are associated with increased risk of cardiovascular morbidity and mortality.

Sequence variations from dbSNP and Humsavar for NOS1AP Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs77473623 Likely benign 162,357,061(+) CTGTC(C/T)ACTCA reference, synonymous-codon
rs34398505 Uncertain significance 162,367,163(+) GGGCG(C/T)GGGCT reference, missense
rs796052201 Uncertain significance 162,367,222(+) GCTTG(A/G)TGAAG reference, missense
rs796052202 Uncertain significance 162,357,021(+) TTCTT(C/T)CTCGA reference, missense
rs1000005367 -- 162,339,404(+) TTTAA(A/T)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NOS1AP Gene

Variant ID Type Subtype PubMed ID
dgv214n106 CNV deletion 24896259
dgv41n27 CNV gain 19166990
dgv456n100 CNV gain 25217958
dgv608n54 CNV gain 21841781
esv1282003 CNV deletion 17803354
esv1930340 CNV deletion 18987734
esv2055258 CNV deletion 18987734
esv2653197 CNV deletion 19546169
esv2662394 CNV deletion 23128226
esv2667219 CNV deletion 23128226
esv2718906 CNV deletion 23290073
esv2718918 CNV deletion 23290073
esv2758973 CNV gain 17122850
esv2761965 CNV loss 21179565
esv2849124 CNV deletion 24192839
esv29246 CNV loss 19812545
esv2951 CNV loss 18987735
esv3304648 CNV mobile element insertion 20981092
esv3306499 CNV mobile element insertion 20981092
esv33393 CNV gain+loss 17666407
esv3340175 CNV insertion 20981092
esv3348186 CNV insertion 20981092
esv3378650 CNV insertion 20981092
esv34183 CNV loss 18971310
esv34209 CNV gain 17911159
esv34749 CNV gain 17911159
esv3541722 CNV deletion 23714750
esv3541744 CNV deletion 23714750
esv3541789 CNV deletion 23714750
esv3578232 CNV loss 25503493
esv3587740 CNV gain 21293372
esv3587741 CNV gain 21293372
esv3587746 CNV loss 21293372
esv3587747 CNV loss 21293372
esv3877 CNV loss 18987735
esv6376 CNV loss 19470904
esv988854 CNV deletion 20482838
nsv1001433 CNV gain 25217958
nsv1012248 CNV loss 25217958
nsv1079020 CNV deletion 25765185
nsv1133916 CNV deletion 24896259
nsv158962 CNV deletion 16902084
nsv464206 CNV gain 19166990
nsv470744 CNV gain 18288195
nsv516482 CNV gain+loss 19592680
nsv548077 CNV gain 21841781
nsv818511 CNV gain 17921354
nsv818522 CNV gain 17921354
nsv818533 CNV gain 17921354
nsv825276 CNV loss 20364138
nsv831747 CNV loss 17160897
nsv831759 CNV gain+loss 17160897
nsv946472 CNV duplication 23825009
nsv952228 CNV duplication 24416366
nsv957942 CNV deletion 24416366

Variation tolerance for NOS1AP Gene

Residual Variation Intolerance Score: 32.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NOS1AP Gene

Human Gene Mutation Database (HGMD)
NOS1AP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOS1AP

Disorders for NOS1AP Gene

MalaCards: The human disease database

(2) MalaCards diseases for NOS1AP Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
long qt syndrome 1
  • long qt syndrome 1, acquired
schizophrenia
  • schizophrenia 12
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NOS1AP

Genetic Association Database (GAD)
NOS1AP
Human Genome Epidemiology (HuGE) Navigator
NOS1AP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NOS1AP
genes like me logo Genes that share disorders with NOS1AP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NOS1AP Gene

Publications for NOS1AP Gene

  1. CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95. (PMID: 9459447) Jaffrey S.R. … Snyder S.H. (Neuron 1998) 2 3 4 22 64
  2. NOS1AP variant associated with incidence of type 2 diabetes in calcium channel blocker users in the Atherosclerosis Risk in Communities (ARIC) study. (PMID: 19943157) Chu A.Y. … Kao W.H. (Diabetologia 2010) 3 22 46 64
  3. Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. (PMID: 19204306) Kao W.H. … Chakravarti A. (Circulation 2009) 3 22 46 64
  4. Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration. (PMID: 18927126) Eijgelsheim M. … Stricker B.H. (Hum. Mol. Genet. 2009) 3 22 46 64
  5. Evidence for a role of the NOS1AP (CAPON) gene in schizophrenia and its clinical dimensions: an association study in a South American population isolate. (PMID: 19077434) Kremeyer B. … Ruiz-Linares A. (Hum. Hered. 2009) 3 22 46 64

Products for NOS1AP Gene

Sources for NOS1AP Gene

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