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Aliases for NOS1 Gene

Aliases for NOS1 Gene

  • Nitric Oxide Synthase 1 2 3 5
  • Peptidyl-Cysteine S-Nitrosylase NOS1 3 4
  • Nitric Oxide Synthase 1 (Neuronal) 2 3
  • Constitutive NOS 3 4
  • 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
  • EC 1.14.13.39 4
  • IHPS1 3
  • NOS 3

External Ids for NOS1 Gene

Previous HGNC Symbols for NOS1 Gene

  • NOS

Previous GeneCards Identifiers for NOS1 Gene

  • GC12M116666
  • GC12M117431
  • GC12M116060
  • GC12M116111
  • GC12M117636
  • GC12M114660

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) is a Protein Coding gene. Diseases associated with NOS1 include Achalasia, Familial Esophageal and Pyloric Stenosis, Infantile Hypertrophic, 1. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Apelin signaling pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is NOS3.

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), with inducible nitric oxide synthase (iNOS) and endothelial nitric oxide synthase (eNOS), catalyzes nitric oxide and L-citrulline generation from L-arginine and molecular oxygen. nNOS is activated at calcium concentrations over 100 nM.

Gene Wiki entry for NOS1 Gene

Additional gene information for NOS1 Gene

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

Genomics for NOS1 Gene

GeneHancer (GH) Regulatory Elements for NOS1 Gene

Promoters and enhancers for NOS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J117361 Promoter/Enhancer 1 EPDnew ENCODE 650.2 +90.8 90795 0.1 SUZ12 CTBP2 ZNF398 ZBTB8A ZBTB26 EZH2 GC12M117362 GC12M117361 NOS1 GC12M117408 GC12M117409
GH12J117362 Promoter 0.7 EPDnew 658.5 +90.4 90449 0.1 SUZ12 EZH2 NOS1 GC12M117361 GC12M117362 GC12M117408 GC12M117409
GH12J117407 Enhancer 0.6 ENCODE 20.6 +43.9 43911 1.2 SP1 ZFHX2 HNF4A ZFX RAD21 GABPA YY1 EGR2 GC12M117409 GC12M117408 NOS1 ENSG00000255686 GC12M117362 GC12M117361
GH12J117485 Enhancer 1 Ensembl ENCODE 11.6 -34.7 -34721 2.2 SIN3A GLIS2 FOS EGR2 SMARCA5 RXRA REST ZNF217 SREBF1 SP1 ENSG00000255686 NOS1 LOC105370012 GC12M117454 GC12M117481 KSR2
GH12J117434 Enhancer 0.6 FANTOM5 14.2 +17.9 17855 0.5 HDGF SREBF1 ZFHX2 ZNF680 ZNF512B YBX1 EGR2 NOS1 GC12M117439 GC12M117440 GC12M117409 GC12M117408
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NOS1 gene promoter:
  • Nkx2-5
  • AP-1
  • STAT5A
  • CREB
  • deltaCREB
  • ATF-2
  • c-Jun

Genomic Locations for NOS1 Gene

Genomic Locations for NOS1 Gene
chr12:117,208,142-117,452,170
(GRCh38/hg38)
Size:
244,029 bases
Orientation:
Minus strand
chr12:117,645,947-117,889,975
(GRCh37/hg19)
Size:
244,029 bases
Orientation:
Minus strand

Genomic View for NOS1 Gene

Genes around NOS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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=heme; Xref=ChEBI:CHEBI:30413;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Cofactor:
    Name=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin; Xref=ChEBI:CHEBI:59560;
    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

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

Antibody Products

No data available for DME Specific Peptides for NOS1 Gene

Domains & Families for NOS1 Gene

Gene Families for NOS1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P29475

UniProtKB/Swiss-Prot:

NOS1_HUMAN :
  • 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).
  • Belongs to the NOS family.
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).
Family:
  • Belongs to the NOS family.
genes like me logo Genes that share domains with NOS1: view

Function for NOS1 Gene

Molecular function for NOS1 Gene

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.
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.
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

Enzyme Numbers (IUBMB) for NOS1 Gene

Phenotypes From GWAS Catalog 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 TAS,IEA --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI,IEA 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

Human Phenotype Ontology for NOS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOS1 Gene

MGI Knock Outs for NOS1:

Animal Model Products

Clone Products

No data available for Transcription Factor Targets 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
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 NOS1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
endoplasmic reticulum 5
cytosol 5
cytoskeleton 4
mitochondrion 4
extracellular 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NOS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment ISS 17027776
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 17892502
GO:0005739 mitochondrion ISS,IEA --
genes like me logo Genes that share ontologies with NOS1: view

Pathways & Interactions 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 IEA,ISS --
GO:0006527 arginine catabolic process IC 7545544
GO:0006809 nitric oxide biosynthetic process IEA,ISS 7545544
GO:0006936 muscle contraction IBA --
genes like me logo Genes that share ontologies with NOS1: view

No data available for SIGNOR curated interactions for NOS1 Gene

Drugs & Compounds for NOS1 Gene

(133) Drugs for NOS1 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citrulline Approved, Investigational Nutra Full agonist, Agonist, Target 0
FAD Approved Pharma Target 0
Flavin Mononucleotide Approved, Investigational Pharma Target 8
Ketamine Approved, Vet_approved Pharma Channel blocker, Target, inhibitor 634
Nitric Oxide Approved Pharma 643

(55) Additional Compounds for NOS1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) p'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
N(omega)-Hydroxyarginine
  • N-OMEGA-hydroxy-L-arginine
  • N(Omega)-hydroxy-L-arginine
  • N(ω)-hydroxy-L-arginine
  • N(ω)-hydroxyarginine
  • 6-NOHA
53054-07-2
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
Nomega-Propyl-L-arginine hydrochloride
137361-05-8

(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 866914-87-6
Nomega-Propyl-L-arginine hydrochloride Highly selective inhibitor of nNOS 137361-05-8
genes like me logo Genes that share compounds with NOS1: view

Transcripts for NOS1 Gene

mRNA/cDNA for NOS1 Gene

Unigene Clusters for NOS1 Gene

Nitric oxide synthase 1 (neuronal):
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x8.8), Brain - Putamen (basal ganglia) (x5.7), and Brain - Caudate (basal ganglia) (x4.6).

Protein differential expression in normal tissues from HIPED for NOS1 Gene

This gene is overexpressed in Fetal gut (18.3), Pancreas (17.1), Lung (12.1), and Colon (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NOS1 Gene



NURSA nuclear receptor signaling pathways regulating expression of NOS1 Gene:

NOS1

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.

Evidence on tissue expression from TISSUES for NOS1 Gene

  • Nervous system(4.8)
  • Muscle(4.7)
  • Eye(4.4)
  • Blood(2.5)
  • Lung(2.4)
  • Heart(2.3)
  • Intestine(2.3)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NOS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • nervous
  • skeleton
Regions:
Head and neck:
  • eye
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • salivary gland
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NOS1: view

No data available for Protein tissue co-expression partners for NOS1 Gene

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 34 33
  • 98.48 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
-- 34
  • 74 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NOS1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NOS1 34 33
  • 90.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NOS1 34 33
  • 90.34 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nos1 33
  • 87.45 (n)
mouse
(Mus musculus)
Mammalia Nos1 16 34 33
  • 87.05 (n)
chicken
(Gallus gallus)
Aves NOS1 34 33
  • 80.04 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NOS1 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nos1 33
  • 71.82 (n)
African clawed frog
(Xenopus laevis)
Amphibia nos1-A 33
zebrafish
(Danio rerio)
Actinopterygii nos1 34 33 33
  • 70.83 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008255 33
  • 57.58 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nos 34 35 33
  • 56.44 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5751 34
  • 54 (a)
OneToMany
Cin.12824 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12824 33
Species where no ortholog for NOS1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NOS1: view image

Paralogs for NOS1 Gene

Paralogs for NOS1 Gene

(2) SIMAP similar genes for NOS1 Gene using alignment to 5 proteins:

  • NOS1_HUMAN
  • A0PJJ7_HUMAN
  • B3VK56_HUMAN
  • C9J5P6_HUMAN
  • L8E6X1_HUMAN
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 Variation AA Info Type
rs41279104 uncertain-significance, Pyloric stenosis, infantile hypertrophic 1 117,439,680(-) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1060499530 uncertain-significance, not provided 117,227,441(-) G/C coding_sequence_variant, stop_gained
rs1000006523 -- 117,313,158(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000013967 -- 117,292,081(-) T/C intron_variant
rs1000027954 -- 117,393,126(-) G/C genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv2903n54 CNV loss 21841781
esv2746435 CNV deletion 23290073
esv2746436 CNV deletion 23290073
esv3581916 CNV gain 25503493
esv3630863 CNV gain 21293372
nsv1051681 CNV gain 25217958
nsv1070131 CNV deletion 25765185
nsv1113524 CNV deletion 24896259
nsv1142817 CNV tandem duplication 24896259
nsv509478 CNV insertion 20534489
nsv510592 CNV deletion 20534489
nsv53465 CNV deletion 16902084
nsv560385 CNV loss 21841781
nsv832526 CNV loss 17160897
nsv901 CNV insertion 18451855

Variation tolerance for NOS1 Gene

Residual Variation Intolerance Score: 5.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.81; 93.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOS1 Gene

Human Gene Mutation Database (HGMD)
NOS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOS1 Gene

Disorders for NOS1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for NOS1 Gene - From: HGMD, OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
achalasia, familial esophageal
  • idiopathic achalasia
pyloric stenosis, infantile hypertrophic, 1
  • ihps1
pyloric stenosis
impotence
  • erectile dysfunction
hypertrophic pyloric stenosis
  • congenital hypertrophic pyloric stenosis
- elite association - COSMIC cancer census association via MalaCards
Search NOS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NOS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NOS1: view

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

Publications for NOS1 Gene

  1. Genetic association analysis of functional polymorphisms in neuronal nitric oxide synthase 1 gene (NOS1) and mood disorders and fluvoxamine response in major depressive disorder in the Japanese population. (PMID: 20016223) Okumura T … Iwata N (Neuropsychobiology 2010) 3 22 44 58
  2. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome. (PMID: 18058820) Winkelmann J … Müller-Myhsok B (Movement disorders : official journal of the Movement Disorder Society 2008) 3 22 44 58
  3. Nitric oxide synthase 1 as a potential modifier gene of decline in lung function in patients with cystic fibrosis. (PMID: 14760158) Texereau J … Dinh-Xuan AT (Thorax 2004) 3 22 44 58
  4. Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. (PMID: 14757827) Saur D … Allescher HD (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 22 44 58
  5. Association analysis for neuronal nitric oxide synthase gene polymorphism with major depression and fluoxetine response. (PMID: 12759556) Yu YW … Tsai SJ (Neuropsychobiology 2003) 3 22 44 58

Products for NOS1 Gene

Sources for NOS1 Gene

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