Gene Gene information from NCBI Gene database.
Entrez ID 4842
Gene name Nitric oxide synthase 1
Gene symbol NOS1
Synonyms (NCBI Gene)
IHPS1N-NOSNC-NOSNOSbNOSnNOS
Chromosome 12
Chromosome location 12q24.22
Summary 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,
miRNA miRNA information provided by mirtarbase database.
345
miRTarBase ID miRNA Experiments Reference
MIRT736673 hsa-miR-146a-3p Northern blottingRNA-seqqRT-PCR 32758035
MIRT1189360 hsa-miR-103a CLIP-seq
MIRT1189361 hsa-miR-107 CLIP-seq
MIRT1189362 hsa-miR-1183 CLIP-seq
MIRT1189363 hsa-miR-1184 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
NFKB1 Activation 17081374
NR0B1 Activation 19726747
RELA Activation 17081374
SP1 Unknown 12237165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
124
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEP 16276418
GO:0001917 Component Photoreceptor inner segment ISS 17027776
GO:0002028 Process Regulation of sodium ion transport IEA
GO:0002028 Process Regulation of sodium ion transport ISS
GO:0004517 Function Nitric-oxide synthase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
163731 7872 ENSG00000089250
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29475
Protein name Nitric oxide synthase 1 (EC 1.14.13.39) (Constitutive NOS) (NC-NOS) (NOS type I) (Neuronal NOS) (N-NOS) (nNOS) (Nitric oxide synthase, brain) (bNOS) (Peptidyl-cysteine S-nitrosylase NOS1)
Protein 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 cy
PDB 4D1N , 4UCH , 4UH5 , 4UH6 , 4V3U , 5ADF , 5ADG , 5ADI , 5FVU , 5FVV , 5FVW , 5FVX , 5UO1 , 5UO2 , 5UO3 , 5UO4 , 5UO5 , 5UO6 , 5UO7 , 5VUV , 5VUW , 5VUX , 5VUY , 5VUZ , 5VV0 , 5VV1 , 5VV2 , 5VV3 , 5VV4 , 5VV5 , 6AUY , 6AUZ , 6AV0 , 6AV1 , 6AV2 , 6AV3 , 6AV4 , 6AV5 , 6CIC , 6CID , 6NG1 , 6NG2 , 6NG4 , 6NG5 , 6NG6 , 6NG7 , 6NG8 , 6NGA , 6NGB , 6NGC , 6NGD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 17 96 PDZ domain Domain
PF02898 NO_synthase 355 717 Nitric oxide synthase, oxygenase domain Domain
PF00258 Flavodoxin_1 762 935 Flavodoxin Domain
PF00667 FAD_binding_1 990 1219 FAD binding domain Domain
PF00175 NAD_binding_1 1251 1365 Oxidoreductase NAD-binding domain Domain
Tissue specificity 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. Is
Sequence
MEDHMFGVQQIQPNVISVRLFKRKVGGLGFLVKERVSKPPVIISDLIRGGAAEQSGLIQA
GDIILAVNGRPLVDLSYDSALEVLRGIASETHVVLI
LRGPEGFTTHLETTFTGDGTPKTI
RVTQPLGPPTKAVDLSHQPPAGKEQPLAVDGASGPGNGPQHAYDDGQEAGSLPHANGLAP
RPPGQDPAKKATRVSLQGRGENNELLKEIEPVLSLLTSGSRGVKGGAPAKAEMKDMGIQV
DRDLDGKSHKPLPLGVENDRVFNDLWGKGNVPVVLNNPYSEKEQPPTSGKQSPTKNGSPS
KCPRFLKVKNWETEVVLTDTLHLKSTLETGCTEYICMGSIMHPSQHARRPEDVRTKGQLF
PLAKEFIDQYYSSIKRFGSKAHMERLEEVNKEIDTTSTYQLKDTELIYGAKHAWRNASRC
VGRIQWSKLQVFDARDCTTAHGMFNYICNHVKYATNKGNLRSAITIFPQRTDGKHDFRVW
NSQLIRYAGYKQPDGSTLGDPANVQFTEICIQQGWKPPRGRFDVLPLLLQANGNDPELFQ
IPPELVLEVPIRHPKFEWFKDLGLKWYGLPAVSNMLLEIGGLEFSACPFSGWYMGTEIGV
RDYCDNSRYNILEEVAKKMNLDMRKTSSLWKDQALVEINIAVLYSFQSDKVTIVDHHSAT
ESFIKHMENEYRCRGGCPADWVWIVPPMSGSITPVFHQEMLNYRLTPSFEYQPDPWN
THV
WKGTNGTPTKRRAIGFKKLAEAVKFSAKLMGQAMAKRVKATILYATETGKSQAYAKTLCE
IFKHAFDAKVMSMEEYDIVHLEHETLVLVVTSTFGNGDPPENGEKFGCALMEMRHPNSVQ
EERKSYKVRFNSVSSYSDSQKSSGDGPDLRDNFESAGPLANVRFSVFGLGSRAYPHFCAF
GHAVDTLLEELGGERILKMREGDELCGQEEAFRTW
AKKVFKAACDVFCVGDDVNIEKANN
SLISNDRSWKRNKFRLTFVAEAPELTQGLSNVHKKRVSAARLLSRQNLQSPKSSRSTIFV
RLHTNGSQELQYQPGDHLGVFPGNHEDLVNALIERLEDAPPVNQMVKVELLEERNTALGV
ISNWTDELRLPPCTIFQAFKYYLDITTPPTPLQLQQFASLATSEKEKQRLLVLSKGLQEY
EEWKWGKNPTIVEVLEEFPSIQMPATLLLTQLSLLQPRYYSISSSPDMYPDEVHLTVAIV
SYRTRDGEGPIHHGVCSSW
LNRIQADELVPCFVRGAPSFHLPRNPQVPCILVGPGTGIAP
FRSFWQQRQFDIQHKGMNPCPMVLVFGCRQSKIDHIYREETLQAKNKGVFRELYTAYSRE
PDKPKKYVQDILQEQLAESVYRALKEQGGHIYVCGDVTMAADVLK
AIQRIMTQQGKLSAE
DAGVFISRMRDDNRYHEDIFGVTLRTYEVTNRLRSESIAFIEESKKDTDEVFSS
Sequence length 1434
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arginine biosynthesis
Arginine and proline metabolism
Metabolic pathways
Calcium signaling pathway
Hormone signaling
Phagosome
Apelin signaling pathway
Circadian entrainment
Long-term depression
Relaxin signaling pathway
Salivary secretion
Alzheimer disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
  ROS and RNS production in phagocytes
Nitric oxide stimulates guanylate cyclase
Ion homeostasis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
39
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations