NOS1 (nitric oxide synthase 1)

2007-02-01  

Identity

HGNC
NOS1
LOCATION
12q24.22
LOCUSID
4842
ALIAS
IHPS1,N-NOS,NC-NOS,NOS,bNOS,nNOS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4842
MIM: 163731
HGNC: 7872
Ensembl: ENSG00000089250

Variants:

dbSNP: 4842
ClinVar: 4842
TCGA: ENSG00000089250
COSMIC: NOS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089250ENST00000317775P29475
ENSG00000089250ENST00000317775B3VK56
ENSG00000089250ENST00000338101P29475
ENSG00000089250ENST00000344089C9J5P6
ENSG00000089250ENST00000618760P29475

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
Arginine and proline metabolismKEGGko00330
Calcium signaling pathwayKEGGko04020
Long-term depressionKEGGko04730
Alzheimer's diseaseKEGGko05010
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Arginine biosynthesisKEGGhsa00220
Arginine and proline metabolismKEGGhsa00330
Calcium signaling pathwayKEGGhsa04020
Long-term depressionKEGGhsa04730
Alzheimer's diseaseKEGGhsa05010
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Metabolic pathwaysKEGGhsa01100
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Nitric oxide stimulates guanylate cyclaseREACTOMER-HSA-392154
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD
PA445113NeutropeniaDiseaseClinicalAnnotationassociatedPD
PA449165cyclophosphamideChemicalClinicalAnnotationassociatedPD
PA449412doxorubicinChemicalPathwayassociated21048526
PA449476epirubicinChemicalClinicalAnnotationassociatedPD
PA449957ibuprofenChemicalPathwayassociated25502615

References

Pubmed IDYearTitleCitations
366824192023nNOS-induced tyrosine nitration of TRKB impairs BDNF signaling and restrains neuronal plasticity.0
367152802023The Role of Macula Densa Nitric Oxide Synthase 1 Beta Splice Variant in Modulating Tubuloglomerular Feedback.2
381586772023The neuronal nitric oxide synthase expression increases during satellite cell-derived primary myoblasts differentiation.0
366824192023nNOS-induced tyrosine nitration of TRKB impairs BDNF signaling and restrains neuronal plasticity.0
367152802023The Role of Macula Densa Nitric Oxide Synthase 1 Beta Splice Variant in Modulating Tubuloglomerular Feedback.2
381586772023The neuronal nitric oxide synthase expression increases during satellite cell-derived primary myoblasts differentiation.0
350419382022Uncovering associations between mental illness diagnosis, nitric oxide synthase gene variation, and peripheral nitric oxide concentration.7
358218972022The expanding roles of neuronal nitric oxide synthase (NOS1).8
361979682022NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.9
350419382022Uncovering associations between mental illness diagnosis, nitric oxide synthase gene variation, and peripheral nitric oxide concentration.7
358218972022The expanding roles of neuronal nitric oxide synthase (NOS1).8
361979682022NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.9
320611342021NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis.11
333479822021Association of G84A and C276T polymorphism in neuronal nitric oxide synthase (nNOS) gene with herpes simplex encephalitis in eastern Indian population.0
334341442021Hepatic nNOS impaired hepatic insulin sensitivity through the activation of p38 MAPK.3

Citation

Dessen P

NOS1 (nitric oxide synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43850/haematological-explorer/gene-fusions/js/js/lib/bootstrap.min.js