Human Gene NOS1 (ENST00000317775.11_11) from GENCODE V47lift37
  Description: nitric oxide synthase 1, transcript variant 4 (from RefSeq NM_001204214.2)
Gencode Transcript: ENST00000317775.11_11
Gencode Gene: ENSG00000089250.20_14
Transcript (Including UTRs)
   Position: hg19 chr12:117,645,947-117,799,431 Size: 153,485 Total Exon Count: 29 Strand: -
Coding Region
   Position: hg19 chr12:117,653,114-117,768,874 Size: 115,761 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:117,645,947-117,799,431)mRNA (may differ from genome)Protein (1434 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NOS1_HUMAN
DESCRIPTION: RecName: Full=Nitric oxide synthase, brain; EC=1.14.13.39; AltName: Full=Constitutive NOS; AltName: Full=NC-NOS; AltName: Full=NOS type I; AltName: Full=Neuronal NOS; Short=N-NOS; Short=nNOS; AltName: Full=Peptidyl-cysteine S-nitrosylase NOS1; AltName: Full=bNOS;
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.
CATALYTIC ACTIVITY: 2 L-arginine + 3 NADPH + 4 O(2) = 2 L- citrulline + 2 nitric oxide + 3 NADP(+) + 4 H(2)O.
COFACTOR: Heme group.
COFACTOR: Binds 1 FAD.
COFACTOR: Binds 1 FMN.
COFACTOR: Tetrahydrobiopterin (BH4). May stabilize the dimeric form of the enzyme.
ENZYME REGULATION: Stimulated by calcium/calmodulin. Inhibited by n-Nos-inhibiting protein (PIN) which may prevent the dimerization of the protein. Inhibited by NOSIP.
SUBUNIT: 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).
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein. Cell projection, dendritic spine (By similarity). 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).
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.
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).
PTM: Ubiquitinated; mediated by STUB1/CHIP in the presence of Hsp70 and Hsp40 (in vitro) (By similarity).
SIMILARITY: Belongs to the NOS family.
SIMILARITY: Contains 1 FAD-binding FR-type domain.
SIMILARITY: Contains 1 flavodoxin-like domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/nos1/";
WEB RESOURCE: Name=Wikipedia; Note=Nitric oxide synthase entry; URL="http://en.wikipedia.org/wiki/Nitric_oxide_synthase";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NOS1
Diseases sorted by gene-association score: achalasia, familial esophageal* (350), impotence (45), pyloric stenosis (42), hypertrophic pyloric stenosis (24), achalasia (14), becker muscular dystrophy (12), sexual disorder (9), intestinal perforation (9), duchenne muscular dystrophy (9), hepatic encephalopathy (9), tetrahydrobiopterin deficiency (8), progressive muscular dystrophy (8), hyperphenylalaninemia (7), acute chest syndrome (7), spinal cord injury (7), gastroparesis (7), jejunoileitis (6), cluster headache (6), radiation cystitis (6), cerebral hypoxia (5), alzheimer disease (3), lateral sclerosis (3), hirschsprung disease 1 (2), psychotic disorder (2), schizophrenia (2), amyotrophic lateral sclerosis 1 (1), parkinson disease, late-onset (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.68 RPKM in Muscle - Skeletal
Total median expression: 36.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -191.30535-0.358 Picture PostScript Text
3' UTR -2607.827167-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003097 - FAD-binding_1
IPR017927 - Fd_Rdtase_FAD-bd
IPR001094 - Flavdoxin
IPR008254 - Flavodoxin/NO_synth
IPR001709 - Flavoprot_Pyr_Nucl_cyt_Rdtase
IPR023173 - NADPH_Cyt_P450_Rdtase_dom3
IPR004030 - NO_synthase_oxygenase_dom
IPR026009 - NOS
IPR012144 - NOS_met
IPR001433 - OxRdtase_FAD/NAD-bd
IPR001478 - PDZ
IPR017938 - Riboflavin_synthase-like_b-brl

Pfam Domains:
PF00175 - Oxidoreductase NAD-binding domain
PF00258 - Flavodoxin
PF00595 - PDZ domain
PF00667 - FAD binding domain
PF02898 - Nitric oxide synthase, oxygenase domain
PF17820 - PDZ domain

SCOP Domains:
50156 - PDZ domain-like
63380 - Riboflavin synthase domain-like
50729 - PH domain-like
52218 - Flavoproteins
52343 - Ferredoxin reductase-like, C-terminal NADP-linked domain
56512 - Nitric oxide (NO) synthase oxygenase domain

ModBase Predicted Comparative 3D Structure on P29475
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003958 NADPH-hemoprotein reductase activity
GO:0004517 nitric-oxide synthase activity
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0010181 FMN binding
GO:0016491 oxidoreductase activity
GO:0017080 sodium channel regulator activity
GO:0020037 heme binding
GO:0034617 tetrahydrobiopterin binding
GO:0034618 arginine binding
GO:0044325 ion channel binding
GO:0046870 cadmium ion binding
GO:0046872 metal ion binding
GO:0050660 flavin adenine dinucleotide binding
GO:0050661 NADP binding
GO:0097110 scaffold protein binding

Biological Process:
GO:0001666 response to hypoxia
GO:0002028 regulation of sodium ion transport
GO:0006527 arginine catabolic process
GO:0006809 nitric oxide biosynthetic process
GO:0006941 striated muscle contraction
GO:0007263 nitric oxide mediated signal transduction
GO:0007520 myoblast fusion
GO:0009408 response to heat
GO:0010523 negative regulation of calcium ion transport into cytosol
GO:0018119 peptidyl-cysteine S-nitrosylation
GO:0031284 positive regulation of guanylate cyclase activity
GO:0033555 multicellular organismal response to stress
GO:0035066 positive regulation of histone acetylation
GO:0042136 neurotransmitter biosynthetic process
GO:0042311 vasodilation
GO:0042738 exogenous drug catabolic process
GO:0043267 negative regulation of potassium ion transport
GO:0045454 cell redox homeostasis
GO:0045776 negative regulation of blood pressure
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050767 regulation of neurogenesis
GO:0051346 negative regulation of hydrolase activity
GO:0051612 negative regulation of serotonin uptake
GO:0051926 negative regulation of calcium ion transport
GO:0055114 oxidation-reduction process
GO:0055117 regulation of cardiac muscle contraction
GO:0060314 regulation of ryanodine-sensitive calcium-release channel activity
GO:0071363 cellular response to growth factor stimulus
GO:0098735 positive regulation of the force of heart contraction
GO:0098924 retrograde trans-synaptic signaling by nitric oxide
GO:1902307 positive regulation of sodium ion transmembrane transport
GO:1902514 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
GO:1903779 regulation of cardiac conduction

Cellular Component:
GO:0001917 photoreceptor inner segment
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016020 membrane
GO:0016529 sarcoplasmic reticulum
GO:0030018 Z disc
GO:0030315 T-tubule
GO:0032991 macromolecular complex
GO:0033017 sarcoplasmic reticulum membrane
GO:0042383 sarcolemma
GO:0042995 cell projection
GO:0043197 dendritic spine
GO:0045121 membrane raft
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:1990425 ryanodine receptor complex


-  Descriptions from all associated GenBank mRNAs
  AK294435 - Homo sapiens cDNA FLJ57045 complete cds, highly similar to Nitric-oxide synthase, brain (EC 1.14.13.39).
EU753241 - Homo sapiens NOS1 mutant mRNA, complete cds.
HV708935 - JP 2012506450-A/33: Methods for treating eye disorders.
JA482064 - Sequence 47 from Patent WO2011072091.
JE980356 - Sequence 47 from Patent EP2862929.
U17327 - Human neuronal nitric oxide synthase (NOS1) mRNA, complete cds.
D16408 - Homo sapiens mRNA for neuronal nitric oxide synthase, complete cds.
L02881 - Human nitric oxide synthase mRNA, complete cds.
U31466 - Human retinal nitric oxide synthase (NOS) mRNA, complete cds.
BC156399 - Synthetic construct Homo sapiens clone IMAGE:100062005, MGC:190140 nitric oxide synthase 1 (neuronal) (NOS1) mRNA, encodes complete protein.
BC172474 - Synthetic construct Homo sapiens clone IMAGE:100069168, MGC:199179 nitric oxide synthase 1 (neuronal) (NOS1) mRNA, encodes complete protein.
AK307481 - Homo sapiens cDNA, FLJ97429.
JD179116 - Sequence 160140 from Patent EP1572962.
JD421512 - Sequence 402536 from Patent EP1572962.
JD514945 - Sequence 495969 from Patent EP1572962.
JD294137 - Sequence 275161 from Patent EP1572962.
JD179115 - Sequence 160139 from Patent EP1572962.
JD199477 - Sequence 180501 from Patent EP1572962.
JD471987 - Sequence 453011 from Patent EP1572962.
BC010126 - Homo sapiens cDNA clone IMAGE:3948082, partial cds.
BC033208 - Homo sapiens nitric oxide synthase 1 (neuronal), mRNA (cDNA clone IMAGE:4903999), partial cds.
JD309291 - Sequence 290315 from Patent EP1572962.
JD361188 - Sequence 342212 from Patent EP1572962.
JD334193 - Sequence 315217 from Patent EP1572962.
JD309925 - Sequence 290949 from Patent EP1572962.
JD177549 - Sequence 158573 from Patent EP1572962.
JD334191 - Sequence 315215 from Patent EP1572962.
JD177547 - Sequence 158571 from Patent EP1572962.
JD199372 - Sequence 180396 from Patent EP1572962.
JD094116 - Sequence 75140 from Patent EP1572962.
JD460122 - Sequence 441146 from Patent EP1572962.
JD541505 - Sequence 522529 from Patent EP1572962.
JD560690 - Sequence 541714 from Patent EP1572962.
JD120559 - Sequence 101583 from Patent EP1572962.
JD379667 - Sequence 360691 from Patent EP1572962.
JD379668 - Sequence 360692 from Patent EP1572962.
JD120558 - Sequence 101582 from Patent EP1572962.
JD513918 - Sequence 494942 from Patent EP1572962.
JD148683 - Sequence 129707 from Patent EP1572962.
JD414809 - Sequence 395833 from Patent EP1572962.
JD123404 - Sequence 104428 from Patent EP1572962.
JD070401 - Sequence 51425 from Patent EP1572962.
JD134309 - Sequence 115333 from Patent EP1572962.
JD524771 - Sequence 505795 from Patent EP1572962.
JD352566 - Sequence 333590 from Patent EP1572962.
JD213393 - Sequence 194417 from Patent EP1572962.
JD213395 - Sequence 194419 from Patent EP1572962.
JD463302 - Sequence 444326 from Patent EP1572962.
JD537799 - Sequence 518823 from Patent EP1572962.
JD253667 - Sequence 234691 from Patent EP1572962.
JD403620 - Sequence 384644 from Patent EP1572962.
JD117544 - Sequence 98568 from Patent EP1572962.
JD354097 - Sequence 335121 from Patent EP1572962.
JD270053 - Sequence 251077 from Patent EP1572962.
JD323585 - Sequence 304609 from Patent EP1572962.
JD482926 - Sequence 463950 from Patent EP1572962.
JD544300 - Sequence 525324 from Patent EP1572962.
JD551184 - Sequence 532208 from Patent EP1572962.
JD535918 - Sequence 516942 from Patent EP1572962.
JD156415 - Sequence 137439 from Patent EP1572962.
JD330222 - Sequence 311246 from Patent EP1572962.
JD047892 - Sequence 28916 from Patent EP1572962.
JD038034 - Sequence 19058 from Patent EP1572962.
JD434722 - Sequence 415746 from Patent EP1572962.
JD305794 - Sequence 286818 from Patent EP1572962.
JD043827 - Sequence 24851 from Patent EP1572962.
JD042590 - Sequence 23614 from Patent EP1572962.
JD266607 - Sequence 247631 from Patent EP1572962.
JD227009 - Sequence 208033 from Patent EP1572962.
JD327681 - Sequence 308705 from Patent EP1572962.
JD163513 - Sequence 144537 from Patent EP1572962.
JD111301 - Sequence 92325 from Patent EP1572962.
JD389485 - Sequence 370509 from Patent EP1572962.
JD516992 - Sequence 498016 from Patent EP1572962.
JD120111 - Sequence 101135 from Patent EP1572962.
JD184915 - Sequence 165939 from Patent EP1572962.
JD284189 - Sequence 265213 from Patent EP1572962.
JD091171 - Sequence 72195 from Patent EP1572962.
JD512248 - Sequence 493272 from Patent EP1572962.
JD465310 - Sequence 446334 from Patent EP1572962.
JD343505 - Sequence 324529 from Patent EP1572962.
JD490110 - Sequence 471134 from Patent EP1572962.
JD391961 - Sequence 372985 from Patent EP1572962.
JD393747 - Sequence 374771 from Patent EP1572962.
JD254394 - Sequence 235418 from Patent EP1572962.
JD521009 - Sequence 502033 from Patent EP1572962.
JD287926 - Sequence 268950 from Patent EP1572962.
AJ004918 - Homo sapiens mRNA for neuronal nitric-oxide synthase isoform mu, partial.
JD285779 - Sequence 266803 from Patent EP1572962.
JD150067 - Sequence 131091 from Patent EP1572962.
JD395183 - Sequence 376207 from Patent EP1572962.
JD063836 - Sequence 44860 from Patent EP1572962.
JD454771 - Sequence 435795 from Patent EP1572962.
AF446135 - Homo sapiens neuronal nitric oxide synthase (NOS1) mRNA, alternative exon 1f.
JD071595 - Sequence 52619 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-4983 - citrulline-nitric oxide cycle

Reactome (by CSHL, EBI, and GO)

Protein P29475 (Reactome details) participates in the following event(s):

R-HSA-5617178 ATP2B4 binds to NOS1, inhibiting it
R-HSA-418436 Nitric Oxide Synthase (NOS) produces Nitric Oxide (NO)
R-HSA-5578775 Ion homeostasis
R-HSA-5576891 Cardiac conduction
R-HSA-392154 Nitric oxide stimulates guanylate cyclase
R-HSA-1222556 ROS, RNS production in phagocytes
R-HSA-397014 Muscle contraction
R-HSA-418346 Platelet homeostasis
R-HSA-168249 Innate Immune System
R-HSA-109582 Hemostasis
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: E9PH30, ENST00000317775.1, ENST00000317775.10, ENST00000317775.2, ENST00000317775.3, ENST00000317775.4, ENST00000317775.5, ENST00000317775.6, ENST00000317775.7, ENST00000317775.8, ENST00000317775.9, NM_001204214, NOS1 , NOS1_HUMAN, O75713, P29475, uc317qib.1, uc317qib.2
UCSC ID: ENST00000317775.11_11
RefSeq Accession: NM_000620.5
Protein: P29475 (aka NOS1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.