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Aliases for NOS1 Gene

Aliases for NOS1 Gene

  • Nitric Oxide Synthase 1 (Neuronal) 2 3
  • Peptidyl-Cysteine S-Nitrosylase NOS1 3 4
  • Constitutive NOS 3 4
  • EC 1.14.13.39 4 64
  • Neuronal NOS 3 4
  • NOS Type I 3 4
  • NC-NOS 3 4
  • N-NOS 3 4
  • BNOS 3 4
  • NNOS 3 4
  • Nitric Oxide Synthase, Brain 3
  • IHPS1 3
  • NOS 3

External Ids for NOS1 Gene

Previous Symbols for NOS1 Gene

  • NOS

Summaries for NOS1 Gene

Entrez Gene Summary for NOS1 Gene

  • The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic mediator in several processes, including neurotransmission, and antimicrobial and antitumoral activities. In the brain and peripheral nervous system, nitric oxide displays many properties of a neurotransmitter, and has been implicated in neurotoxicity associated with stroke and neurodegenerative diseases, neural regulation of smooth muscle, including peristalsis, and penile erection. This protein is ubiquitously expressed, with high level of expression in skeletal muscle. Multiple transcript variants that differ in the 5' UTR have been described for this gene but the full-length nature of these transcripts is not known. Additionally, alternatively spliced transcript variants encoding different isoforms (some testis-specific) have been found for this gene.[provided by RefSeq, Feb 2011]

GeneCards Summary for NOS1 Gene

NOS1 (Nitric Oxide Synthase 1 (Neuronal)) is a Protein Coding gene. Diseases associated with NOS1 include factitious disorder and pyloric stenosis. Among its related pathways are Disease and PEDF Induced Signaling. GO annotations related to this gene include calmodulin binding and heme binding. An important paralog of this gene is MTRR.

UniProtKB/Swiss-Prot for NOS1 Gene

  • Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR

Tocris Summary for NOS1 Gene

  • Neuronal nitric oxide synthase (nNOS), along with inducible nitric oxide synthase (iNOS) and endothelial nitric oxide synthase (eNOS), catalyze the generation of nitric oxide and L-citrulline from L-arginine and molecular oxygen. It is activated at concentrations of calcium greater than 100 nM and requires co-factors of tetrahydrobiopterin, flavin adenine dinucleotide, flavin mononucleotide and NADPH for catalytic activity. Transcriptional regulation of nNOS is very complex and the nNOS gene produces multiple mRNA transcripts using alternate promoters, alternative splicing, cassette insertions/deletions, and varied sites for 3-UTR cleavage and polyadenylation. Some of these alterations lead to variation in amino acid sequence, translating into nNOS isoforms with altered structural and functional properties. nNOS has been implicated in a wide variety of physiological and pathological processes, including neurotransmission, neurotoxicity, skeletal muscle contraction, sexual function, body fluid homeostasis and atherosclerosis. Consistent with such wide involvement, nNOS is expressed in numerous tissues. The human gene encoding nNOS is localized to chromosome 12q14.

Gene Wiki entry for NOS1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOS1 Gene

Genomics for NOS1 Gene

Genomic Location for NOS1 Gene

Start:
117,208,142 bp from pter
End:
117,452,170 bp from pter
Size:
244,029 bases
Orientation:
Minus strand

Genomic View for NOS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NOS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOS1 Gene

Regulatory Elements for NOS1 Gene

Proteins for NOS1 Gene

  • Protein details for NOS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29475-NOS1_HUMAN
    Recommended name:
    Nitric oxide synthase, brain
    Protein Accession:
    P29475
    Secondary Accessions:
    • E9PH30
    • O75713

    Protein attributes for NOS1 Gene

    Size:
    1434 amino acids
    Molecular mass:
    160970 Da
    Cofactor:
    Name=5,6,7,8-tetrahydrobiopterin; Xref=ChEBI:CHEBI:15372; Note=Tetrahydrobiopterin (BH4). May stabilize the dimeric form of the enzyme.;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD.;
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210; Note=Binds 1 FMN.;
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Homodimer. Interacts with DLG4; the interaction possibly being prevented by the association between NOS1 and CAPON. Forms a ternary complex with CAPON and RASD1. Forms a ternary complex with CAPON and SYN1. Interacts with ZDHHC23. Interacts with NOSIP; which may impair its synaptic location (By similarity). Interacts with HTR4. Interacts with VAC14 (By similarity). Interacts with SLC6A4 (By similarity). Interacts (via N-terminal domain) with DLG4 (via N-terminal tandem pair of PDZ domains) (By similarity).

    Three dimensional structures from OCA and Proteopedia for NOS1 Gene

    Alternative splice isoforms for NOS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOS1 Gene

Proteomics data for NOS1 Gene at MOPED

Post-translational modifications for NOS1 Gene

  • Ubiquitinated; mediated by STUB1/CHIP in the presence of Hsp70 and Hsp40 (in vitro).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NOS1 Gene

Domains for NOS1 Gene

Gene Families for NOS1 Gene

UniProtKB/Swiss-Prot:

NOS1_HUMAN
Domain:
  • The PDZ domain in the N-terminal part of the neuronal isoform participates in protein-protein interaction, and is responsible for targeting nNos to synaptic membranes in muscles. Mediates interaction with VAC14 (By similarity).:
    • P29475
  • Contains 1 FAD-binding FR-type domain.:
    • P29475
  • Contains 1 flavodoxin-like domain.:
    • P29475
  • Contains 1 PDZ (DHR) domain.:
    • P29475
Family:
  • Belongs to the NOS family.:
    • P29475
genes like me logo Genes that share domains with NOS1: view

Function for NOS1 Gene

Molecular function for NOS1 Gene

GENATLAS Biochemistry: nitric oxide synthase 1,constitutive by expressed,neuronal,putative susceptibility gene for infantile pyloric stenosis,widely expressed with a high expression in skeletal muscle
UniProtKB/Swiss-Prot CatalyticActivity: 2 L-arginine + 3 NADPH + 4 O(2) = 2 L-citrulline + 2 nitric oxide + 3 NADP(+) + 4 H(2)O
UniProtKB/Swiss-Prot EnzymeRegulation: Stimulated by calcium/calmodulin. Inhibited by n-Nos-inhibiting protein (PIN) which may prevent the dimerization of the protein. Inhibited by NOSIP
UniProtKB/Swiss-Prot Function: Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body. In the brain and peripheral nervous system, NO displays many properties of a neurotransmitter. Probably has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such SRR

Enzyme Numbers (IUBMB) for NOS1 Gene

Gene Ontology (GO) - Molecular Function for NOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003958 NADPH-hemoprotein reductase activity IBA --
GO:0004517 nitric-oxide synthase activity ISS --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 11149895
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with NOS1: view
genes like me logo Genes that share phenotypes with NOS1: view

Animal Models for NOS1 Gene

MGI Knock Outs for NOS1:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for NOS1 Gene

Localization for NOS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOS1 Gene

Cell membrane, sarcolemma; Peripheral membrane protein. Cell projection, dendritic spine. Note=In skeletal muscle, it is localized beneath the sarcolemma of fast-twitch muscle fiber by associating with the dystrophin glycoprotein complex. In neurons, enriched in dendritic spines (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NOS1 Gene COMPARTMENTS Subcellular localization image for NOS1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
endoplasmic reticulum 4
cytoskeleton 3
mitochondrion 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for NOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS 17027776
GO:0005737 cytoplasm TAS 17892502
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton ISS --
genes like me logo Genes that share ontologies with NOS1: view

Pathways for NOS1 Gene

genes like me logo Genes that share pathways with NOS1: view

Gene Ontology (GO) - Biological Process for NOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEP 16276418
GO:0002028 regulation of sodium ion transport ISS --
GO:0006527 arginine catabolic process IC 7545544
GO:0006809 nitric oxide biosynthetic process ISS 7545544
GO:0006941 striated muscle contraction ISS --
genes like me logo Genes that share ontologies with NOS1: view

Compounds for NOS1 Gene

(3) Tocris Compounds for NOS1 Gene

Compound Action Cas Number
3-Bromo-7-nitroindazole Selective nNOS inhibitor [74209-34-0]
ARL 17477 dihydrochloride Selective nNOS inhibitor [180983-17-9]
Nomega-Propyl-L-arginine hydrochloride Highly selective inhibitor of nNOS [137361-05-8]

(14) HMDB Compounds for NOS1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Citrulline
  • (2S)-2-amino-5-(carbamoylamino)pentanoic acid
372-75-8
Dihydrobiopterin
  • (S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone
6779-87-9
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Flavin Mononucleotide
  • FMN
146-17-8

(2) IUPHAR Ligand for NOS1 Gene

Ligand Type Action Affinity Pubmed IDs
3-bromo-7NI Inhibitor Inhibition 6.5
7NI Inhibitor Inhibition 5.3

(127) Novoseek inferred chemical compound relationships for NOS1 Gene

Compound -log(P) Hits PubMed IDs
nitric oxide 94.2 328
tetrahydrobiopterin 92.1 126
citrulline 87.1 113
7-nitroindazole 85.1 90
arginine 84.3 188
genes like me logo Genes that share compounds with NOS1: view

Transcripts for NOS1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for NOS1 Gene

No ASD Table

Relevant External Links for NOS1 Gene

GeneLoc Exon Structure for
NOS1
ECgene alternative splicing isoforms for
NOS1

Expression for NOS1 Gene

mRNA expression in normal human tissues for NOS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NOS1 Gene

This gene is overexpressed in Muscle - Skeletal (8.8), Brain - Putamen (basal ganglia) (5.7), and Brain - Caudate (basal ganglia) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for NOS1 Gene

SOURCE GeneReport for Unigene cluster for NOS1 Gene Hs.654410

mRNA Expression by UniProt/SwissProt for NOS1 Gene

P29475-NOS1_HUMAN
Tissue specificity: Isoform 1 is ubiquitously expressed: detected in skeletal muscle and brain, also in testis, lung and kidney, and at low levels in heart, adrenal gland and retina. Not detected in the platelets. Isoform 3 is expressed only in testis. Isoform 4 is detected in testis, skeletal muscle, lung, and kidney, at low levels in the brain, but not in the heart and adrenal gland
genes like me logo Genes that share expressions with NOS1: view

Orthologs for NOS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NOS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NOS1 36
  • 98.48 (n)
  • 98.45 (a)
NOS1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NOS1 36
  • 90.34 (n)
  • 95.02 (a)
NOS1 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOS1 36
  • 90.4 (n)
  • 94.41 (a)
NOS1 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nos1 36
  • 87.05 (n)
  • 94.05 (a)
Nos1 16
Nos1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NOS1 37
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 93 (a)
OneToMany
-- 37
  • 74 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Nos1 36
  • 87.45 (n)
  • 94.05 (a)
chicken
(Gallus gallus)
Aves NOS1 36
  • 80.04 (n)
  • 84.36 (a)
NOS1 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOS1 37
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia nos1-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nos1 36
  • 71.82 (n)
  • 79.24 (a)
zebrafish
(Danio rerio)
Actinopterygii nos1 36
  • 70.83 (n)
  • 74.82 (a)
nos1 37
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008255 36
  • 57.58 (n)
  • 52.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nos 36
  • 56.44 (n)
  • 51.37 (a)
Nos 37
  • 45 (a)
OneToMany
Nos 38
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 37
  • 25 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12824 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5751 37
  • 54 (a)
OneToMany
Species with no ortholog for NOS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NOS1 Gene

ENSEMBL:
Gene Tree for NOS1 (if available)
TreeFam:
Gene Tree for NOS1 (if available)

Paralogs for NOS1 Gene

Paralogs for NOS1 Gene

Selected SIMAP similar genes for NOS1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NOS1: view

Variants for NOS1 Gene

Sequence variations from dbSNP and Humsavar for NOS1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs2091 -- 117,387,080(+) TTTTG(G/T)CTCTT intron-variant
rs471075 -- 117,340,898(+) ttttg(G/T)atttt intron-variant
rs471871 -- 117,327,713(+) AGACT(A/T)TTGGT intron-variant
rs473640 -- 117,327,909(+) GGTCT(C/T)ACTGG intron-variant
rs474523 -- 117,328,005(+) GGCCA(C/T)CAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NOS1 Gene

Variant ID Type Subtype PubMed ID
nsv832526 CNV Loss 17160897
nsv510592 CNV Loss 20534489
nsv53465 CNV Loss 16902084
esv2746435 CNV Deletion 23290073
esv2746436 CNV Deletion 23290073
nsv509478 CNV Insertion 20534489
nsv901 CNV Insertion 18451855

Relevant External Links for NOS1 Gene

HapMap Linkage Disequilibrium report
NOS1
Human Gene Mutation Database (HGMD)
NOS1
Locus Specific Mutation Databases (LSDB)
NOS1

Disorders for NOS1 Gene

(1) University of Copenhagen DISEASES for NOS1 Gene

(92) Novoseek inferred disease relationships for NOS1 Gene

Disease -log(P) Hits PubMed IDs
pyloric stenosis 59 17
diabetic gastroparesis 54 5
muscular dystrophy duchenne 51.2 18
pyloric stenosis, infantile 50.5 2
neurodegenerative diseases 49.3 14

Relevant External Links for NOS1

Genetic Association Database (GAD)
NOS1
Human Genome Epidemiology (HuGE) Navigator
NOS1
genes like me logo Genes that share disorders with NOS1: view

No data available for UniProtKB/Swiss-Prot for NOS1 Gene

Publications for NOS1 Gene

  1. Expression of two types of nitric oxide synthase mRNA in human neuroblastoma cell lines. (PMID: 7515942) Fujisawa H. … Esumi H. (J. Neurochem. 1994) 3 4 23
  2. Neuronal isoform of nitric oxide synthase is expressed at low levels in human retina. (PMID: 8879752) Park C.-S. … Krishna G. (Cell. Mol. Neurobiol. 1996) 3 4 23
  3. Localization of brain nitric oxide synthase (NOS) to human chromosome 12. (PMID: 1385308) Kishimoto J. … Xu W. (Genomics 1992) 2 3 23
  4. Exhaled nitric oxide in patients with asthma: association with NOS1 genotype. (PMID: 11112111) Wechsler M.E. … Drazen J.M. (Am. J. Respir. Crit. Care Med. 2000) 3 23 49
  5. Fine mapping and single nucleotide polymorphism association results of candidate genes for asthma and related phenotypes. (PMID: 11668616) Immervoll T. … Wjst M. (Hum. Mutat. 2001) 3 23 49

Products for NOS1 Gene

Sources for NOS1 Gene

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