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NOS1 Gene

protein-coding   GIFtS: 71
GCID: GC12M117636

Nitric Oxide Synthase 1 (Neuronal)


(Previous symbol: NOS)
  See NOS1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Nitric Oxide Synthase 1 (Neuronal)1 2     bNOS2 3
NOS1 2     nNOS2 3
Constitutive NOS2 3     NOS Type I2 3
Neuronal NOS2 3     EC 1.14.13.393 8
Peptidyl-Cysteine S-Nitrosylase NOS12 3     IHPS12
N-NOS2 3     Nitric Oxide Synthase, Brain2
NC-NOS2 3     

External Ids:    HGNC: 78721   Entrez Gene: 48422   Ensembl: ENSG000000892507   OMIM: 1637315   UniProtKB: P294753   

Export aliases for NOS1 gene to outside databases

Previous GC identifers: GC12M116666 GC12M117169 GC12M117431 GC12M116060 GC12M116111 GC12M114660


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include calmodulin binding and heme binding. An important paralog of this gene is NOS3.

UniProtKB/Swiss-Prot: NOS1_HUMAN, P29475
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

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NOS1 gene promoter:
         CREB   AP-1   ATF-2   deltaCREB   c-Jun   STAT5A   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNOS1 promoter sequence
   Search Chromatin IP Primers for NOS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NOS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.22   Ensembl cytogenetic band:  12q24.22   HGNC cytogenetic band: 12q24.22

NOS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NOS1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M117636:  view genomic region     (about GC identifiers)

Start:
117,645,947 bp from pter      End:
117,889,975 bp from pter
Size:
244,029 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NOS1_HUMAN, P29475 (See protein sequence)
Recommended Name: Nitric oxide synthase, brain  
Size: 1434 amino acids; 160970 Da
Cofactor: Heme group
Cofactor: Binds 1 FAD
Cofactor: Binds 1 FMN
Cofactor: Tetrahydrobiopterin (BH4). May stabilize the dimeric form of the enzyme
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). Interacts (via N-terminus domain)
with DLG4 (via N-terminus tandem pair of PDZ domains) (By similarity)
Secondary accessions: E9PH30 O75713
Alternative splicing: 5 isoforms:  P29475-1   P29475-2   P29475-3   P29475-4   P29475-5   

Explore the universe of human proteins at neXtProt for NOS1: NX_P29475

Explore proteomics data for NOS1 at MOPED

Post-translational modifications: 

  • Ubiquitinated; mediated by STUB1/CHIP in the presence of Hsp70 and Hsp40 (in vitro) (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NOS1 (P29475) (see all 38)
     VLEEFPS  GWYMGTE  LDITTPP  VFGLGSR 


    See NOS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000611.1  NP_001191142.1  NP_001191143.1  NP_001191147.1  

    ENSEMBL proteins: 
     ENSP00000320758   ENSP00000337459   ENSP00000339862  
    Reactome Protein details: P29475

    NOS1 Human Recombinant Protein Products:

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    OriGene Custom Protein Services for NOS1
    GenScript Custom Purified and Recombinant Proteins Services for NOS1
    Novus Biologicals NOS1 Protein
    Novus Biologicals NOS1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NOS1

     
    Search eBioscience for Proteins for NOS1 

    NOS1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NOS1
    R&D Systems Antibodies for NOS1 (nNOS)
    Cell Signaling Technology (CST) Antibodies for NOS1  (nNOS)
    OriGene Antibodies for NOS1
    OriGene Custom Antibody Services for NOS1
    Novus Biologicals NOS1 Antibodies
    Abcam antibodies for NOS1 (P29475, P35228)
    Cloud-Clone Corp. Antibodies for NOS1
    ThermoFisher Antibody for NOS1
    LSBio Antibodies in human, mouse, rat for NOS1

    NOS1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NOS1
    Enzo Life Sciences assays for NOS1
    Cloud-Clone Corp. ELISAs for NOS1
    Cloud-Clone Corp. CLIAs for NOS1
    Search eBioscience for ELISAs for NOS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Neuronal NOS
    Nitric oxide synthases

    Selected InterPro protein domains (see all 11):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR001094 Flavdoxin
     IPR001478 PDZ
     IPR008254 Flavodoxin/NO_synth
     IPR012144 NOS_euk

    Graphical View of Domain Structure for InterPro Entry P29475

    ProtoNet protein and cluster: P29475

    Selected Blocks protein domains (see all 6):
    IPB001094 Flavodoxin signature
    IPB001433 Oxidoreductase FAD/NAD(P)-binding
    IPB001478 PDZ/DHR/GLGF domain
    IPB001709 Flavoprotein pyridine nucleotide cytochrome reductase signature
    IPB003097 FAD-binding


    UniProtKB/Swiss-Prot: NOS1_HUMAN, P29475
    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)
    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


    Find genes that share domains with NOS1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NOS1_HUMAN, P29475
    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
    Enzyme regulation: Stimulated by calcium/calmodulin. Inhibited by n-Nos-inhibiting protein (PIN) which may prevent
    the dimerization of the protein. Inhibited by NOSIP

         Genatlas biochemistry entry for NOS1:
    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 Number (IUBMB): EC 1.14.13.391 2

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003958NADPH-hemoprotein reductase activity IBA--
    GO:0004517nitric-oxide synthase activity ISS--
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI11149895
    GO:0005516calmodulin binding IEA--
         
    Find genes that share ontologies with NOS1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NOS1:
     Decreased viability after Chla 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Nos1) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with NOS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NOS1: Nos1tm1Plh Nos1tm1Enik Nos1tm2Plh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NOS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NOS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NOS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NOS1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat NOS1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NOS1 (see all 74):
    hsa-miR-4254 hsa-miR-146a hsa-miR-15a hsa-miR-938 hsa-miR-371-5p hsa-miR-502-3p hsa-miR-149 hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidNOS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NOS1
    Predesigned siRNA for gene silencing in human, mouse, rat NOS1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NOS1

    Clone
    Products:
         
    OriGene clones in human, mouse for NOS1 (see all 7)
    OriGene ORF clones in mouse, rat for NOS1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NOS1 (NM_000620)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NOS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NOS1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NOS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for NOS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NOS1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11704) for NOS1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NOS1_HUMAN, P29475: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    endoplasmic reticulum4
    cytoskeleton3
    mitochondrion2
    nucleus2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001917photoreceptor inner segment ISS17027776
    GO:0005737cytoplasm TAS17892502
    GO:0005829cytosol TAS--
    GO:0005856cytoskeleton ISS7545544
    GO:0016529sarcoplasmic reticulum IDA9892689

    Find genes that share ontologies with NOS1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NOS1 About   (see all 33)  
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    citrulline-nitric oxide cycle0.00
    superpathway of citrulline metabolism0.00
    2Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63
    3Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    4Monoamine Transport
    Monoamine Transport
    Serotonin Transporter Activity0.00
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47


    Find genes that share SuperPaths with NOS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NOS1 (see all 9)
        Cellular Effects of Sildenafil
    Muscular Dystrophies and Dystrophin-Glycoprotein Complex
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Sertoli-Sertoli Cell Junction Dynamics
    Endothelin-1 Signaling Pathway

    2 Cell Signaling Technology (CST) Pathways for NOS1
        Neuroscience
    PI3K / Akt Signaling

    3 GeneGo (Thomson Reuters) Pathways for NOS1
        Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
    Apoptosis and survival Anti-apoptotic action of nuclear ESR1 and ESR2
    NO-dependent CFTR activation (normal and CF)

    Selected BioSystems Pathways for NOS1 (see all 9)
        Myometrial Relaxation and Contraction Pathways
    Spinal Cord Injury
    Amyotrophic lateral sclerosis (ALS)
    Effects of nitric oxide
    Monoamine Transport

    2 Reactome Pathways for NOS1
        Phagosomal maturation (early endosomal stage)
    Nitric oxide stimulates guanylate cyclase

    2 PharmGKB Pathways for NOS1
        Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics
    Doxorubicin Pathway, Pharmacokinetics

    Selected Kegg Pathways  (Kegg details for NOS1) (see all 9):
        Arginine and proline metabolism
    Metabolic pathways
    Calcium signaling pathway
    Phagosome
    Circadian entrainment

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NOS1: 
              Nitric Oxide Signaling Pathway in human mouse rat
              Synaptic Plasticity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NOS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NOS1 (P294751, 2, 3 ENSP000003207584) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VAC14Q08AM61, 2, 3, ENSP000002617764EBI-7164065,EBI-2107455 MINT-3999924 MINT-3999953 MINT-3999982 MINT-3999902 MINT-3999876 I2D: score=3 STRING: ENSP00000261776
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    ADRA1AP353483, ENSP000003699604I2D: score=2 STRING: ENSP00000369960
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 30):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEP16276418
    GO:0002028regulation of sodium ion transport ----
    GO:0006527arginine catabolic process IC7545544
    GO:0006809nitric oxide biosynthetic process ISS7545544
    GO:0006941striated muscle contraction IEA--

    Find genes that share ontologies with NOS1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for NOS1
      Browse compounds at ApexBio 

    Compounds for NOS1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    3-Bromo-7-nitroindazoleSelective nNOS inhibitor[74209-34-0]
    Nomega-Propyl-L-arginine hydrochlorideHighly selective inhibitor of nNOS[137361-05-8]
    ARL 17477 dihydrochlorideSelective nNOS inhibitor[180983-17-9]

    Selected HMDB Compounds for NOS1 (see all 14)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-916804678
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-216216381
    CalciumCa (see all 2)7440-70-2--
    Citrulline(2S)-2-amino-5-(carbamoylamino)pentanoic acid (see all 55)372-75-8--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Flavin MononucleotideFMN (see all 19)146-17-8--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    N-(o)-HydroxyarginineN-(G)-Hydroxyarginine (see all 2)----
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--

    Selected DrugBank Compounds for NOS1 (see all 26)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Citrulline2-Amino-5-uredovaleric acid (see all 8)372-75-8target--10681601 10502685 10962148 10945985 10799481
    (6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin-- --target--17139284 17016423 10592235
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    3-Bromo-7-Nitroindazole-- --target--17139284 17016423 10592235
    5-N-Allyl-Arginine-- --target--17139284 17016423 10592235
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423 10592235
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235
    Heme-- --target--17139284 17016423 10592235
    L-N(Omega)-Nitroarginine-(4r)-Amino-L-Proline Amide-- --target--17139284 17016423 10592235
    L-N(Omega)-Nitroarginine-2,4-L-Diaminobutyric Amide-- --target--17139284 17016423 10592235

    2 IUPHAR Ligands for NOS1 (Neuronal NOS)    About this table
    LigandTypeActionAffinityPubmed IDs
    3-bromo-7NI
    InhibitorInhibition6.1 - 6.57544863
    7NI
    InhibitorInhibition5.37693279

    Selected Novoseek inferred chemical compound relationships for NOS1 gene (see all 127)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nitric oxide 94.2 3522 18580182 (7), 16581191 (7), 17320763 (6), 7524095 (6) (see all 99)
    tetrahydrobiopterin 92.1 193 16216381 (6), 7691806 (5), 9858648 (4), 7514193 (2) (see all 99)
    citrulline 87.1 144 12586539 (4), 14725962 (3), 17110176 (3), 8962079 (2) (see all 91)
    7-nitroindazole 85.1 167 7542758 (3), 11448483 (3), 12322787 (3), 15138761 (2) (see all 70)
    arginine 84.3 472 7519607 (9), 14602725 (5), 15007014 (5), 8955074 (4) (see all 99)
    n(g)-hydroxy-l-arginine 81.7 27 9398165 (4), 19128180 (3), 11481035 (2), 9735327 (1) (see all 12)
    nadph 81.2 265 10847600 (6), 7528212 (5), 12429187 (4), 8690302 (4) (see all 99)
    dihydrobiopterin 78.6 14 8626754 (3), 16804678 (1), 15476407 (1), 16118486 (1) (see all 6)
    peroxynitrite 75.9 47 8839053 (4), 11085318 (3), 12208472 (2), 9398256 (2) (see all 28)
    n-omega-propyl-l-arginine 75 21 15160393 (2), 16423462 (1), 17572695 (1), 19019012 (1) (see all 8)



    Find genes that share compounds with NOS1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NOS1 gene (4 alternative transcripts): 
    NM_000620.4  NM_001204213.1  NM_001204214.1  NM_001204218.1  

    Unigene Cluster for NOS1:

    Nitric oxide synthase 1 (neuronal)
    Hs.654410  [show with all ESTs]
    Unigene Representative Sequence: NM_001204218
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000317775(uc021ren.1 uc021reo.1 uc001twn.2 uc001twm.2)
    ENST00000338101 ENST00000549189 ENST00000477584 ENST00000344089
    miRNA
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    Additional mRNA sequence: 

    AF446135.1 AJ004918.1 AK294435.1 AK307481.1 BC010126.2 BC033208.1 D16408.1 EU753241.1 
    L02881.1 U17327.1 U31466.1 

    5 DOTS entries:

    DT.209591  DT.430999  DT.40118528  DT.121200078  DT.87046327 

    Selected AceView cDNA sequences (see all 49):

    NM_000620 AI793292 BX115063 BC010126 AA935529 BE744153 AI914145 BX105805 
    AI299150 U17327 AJ004918 AF446131 AI791677 BE669690 BE297602 BF433556 
    AF446135 U31466 D16408 BC033208 AI302351 BE741353 BE326294 L02881 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NOS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGGGCTTCT
    NOS1 Expression
    About this image


    NOS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Midbrain tegmentum
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
    NOS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NOS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654410

    UniProtKB/Swiss-Prot: NOS1_HUMAN, P29475
    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NOS1: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NOS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nos11 , 5 nitric oxide synthase 1, neuronal1, 5 87.05(n)1
    94.05(a)1
      5 (57.29 cM)5
    181251  NM_008712.21  NP_032738.11 
     1177810325 
    chicken
    (Gallus gallus)
    Aves NOS11 nitric oxide synthase 1 (neuronal) 80.04(n)
    84.36(a)
      427721  XM_004934480.1  XP_004934537.1 
    lizard
    (Anolis carolinensis)
    Reptilia NOS16
    nitric oxide synthase 1 (neuronal)
    81(a)
    1 ↔ 1
    LGb(2413952-2463375)
    African clawed frog
    (Xenopus laevis)
    Amphibia nos1-A2 neuronal nitric oxide synthase 1 76.45(n)    AF053935.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nos12 nitric oxide synthase 1 (neuronal) 74.9(n)   60658  AY211528.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nos1 , 3 imaginal disc development calmodulin
    binding3
    Nitric oxide synthase1
    49(a)3
    56.44(n)1
    51.37(a)1
      2 32B13
    344951  NM_078817.31  NP_523541.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCP16
    NADP-cytochrome P450 reductase; involved in ergost...
    25(a)
    1 → many
    VIII(190543-192618) YHR042W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NOS1 gene
    NOS32  POR2  NOS22  MTRR2  
    2 SIMAP similar genes for NOS1 using alignment to 5 protein entries:     NOS1_HUMAN (see all proteins):
    NOS3    NOS2

    Find genes that share paralogs with NOS1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NOS1 (see all 3617)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1495514001,2
    --114654634(+) TTCCCC/TTCCCC 4 -- ds50010--------
    rs779348951,2
    C,F--114654681(+) TCTTTT/CCCTCT 4 -- ds50011Minor allele frequency- C:0.16EA 120
    rs732060861,2
    C,F--114654699(+) CTTTCC/TCTCCT 4 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1878691161,2
    --114654871(+) CCTCCC/TCTCTC 4 -- ds50010--------
    rs560557391,2
    C--114655039(+) TCTGGA/GGCACC 4 -- ds50010--------
    rs714446101,2
    C--114655364(+) ACAGC-/GT/GTG
    TGTGTGTGT
    GTGTG
    8 -- ut31 cds11NA 2
    rs668864451,2
    C--114655365(+) CAGCG-/GT/GTGTG
    TGTGTGTGTGT
    TGTGT
    8 -- ut310--------
    rs587149991,2
    C--114655395(+) GTGTG-/TGT/TGTGT/TGTGTGTGT
    GTGT
    /TGTGTGTGTGTGTGTG
    GTGAG
    16 -- cds1 ut310--------
    rs1918675061,2
    --114655723(+) ACAGGG/TTCTCA 4 -- ut310--------
    rs73081501,2
    C,F,A--114655764(+) CATCTC/TGGCTC 4 -- ut312Minor allele frequency- T:0.50WA CSA 4

    HapMap Linkage Disequilibrium report for NOS1 (117645947 - 117889975 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for NOS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2746436CNV Deletion23290073
    esv2746435CNV Deletion23290073
    nsv901CNV Insertion18451855
    nsv509478CNV Insertion20534489
    nsv832526CNV Loss17160897
    nsv53465CNV Loss16902084
    nsv510592CNV Loss20534489

    Human Gene Mutation Database (HGMD): NOS1
    Locus Specific Mutation Databases (LSDB): NOS1

    1 Site Specific Mutation Identification with PCR Assay for NOS1:
    Cosmic IdAA Change
    110337p.S771L
    SeqTarget long-range PCR primers for resequencing NOS1
    DNA2.0 Custom Variant and Variant Library Synthesis for NOS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 163731    OMIM disorders: --

    22 diseases for NOS1 (see first 20):    
    About MalaCards
    factitious disorder    pyloric stenosis    hypertrophic pyloric stenosis    spermatogenic failure 12
    intestinal perforation    psychotic disorder    sepiapterin reductase deficiency    impotence
    gastroparesis    cerebral hypoxia    childhood-onset schizophrenia    achalasia
    gastroschisis    acute chest syndrome    brain ischemia    brain injury
    tetrahydrobiopterin deficiency    hirschsprung's disease    atherosclerosis    amyotrophic lateral sclerosis
    neuroblastoma    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for NOS1:
    Vascular disease

    Find genes that share disorders with NOS1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for NOS1 gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyloric stenosis 59 21 11283889 (3), 14757827 (2), 9354728 (1), 15361336 (1) (see all 14)
    diabetic gastroparesis 54 6 12768383 (1), 17161551 (1), 17160518 (1), 20185690 (1) (see all 5)
    muscular dystrophy duchenne 51.2 20 17313973 (2), 11745948 (2), 9536265 (1), 9398448 (1) (see all 16)
    pyloric stenosis, infantile 50.5 4 8571963 (2)
    neurodegenerative diseases 49.3 23 7523410 (2), 19268602 (1), 20337441 (1), 9847056 (1) (see all 13)
    erectile dysfunction 47.9 4 9284206 (1), 9631946 (1), 7588327 (1), 8562693 (1)
    schizophrenia 45.5 85 19513863 (6), 12140778 (4), 19200422 (4), 18544180 (3) (see all 46)
    brain ischemia 43.5 3 16141535 (1), 10320673 (1)
    schizoaffective disorder 42.7 12 9988837 (1), 17665305 (1), 8483645 (1), 17267179 (1) (see all 11)
    neurodegeneration 41.9 15 15579064 (1), 16095570 (1), 16179512 (1), 18805011 (1) (see all 11)

    Genetic Association Database (GAD): NOS1
    Human Genome Epidemiology (HuGE) Navigator: NOS1 (103 documents)

    Export disorders for NOS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NOS1 gene, integrated from 10 sources (see all 1622):
    (articles sorted by number of sources associating them with NOS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 20016223)1, 4, 9 Okumura T....Iwata N. (Neuropsychobiology 2010)
    2. Nasal nitric oxide levels in cystic fibrosis patients are associated with a neuronal NO synthase (NOS1) gene polymorphism. (PubMed id 11890749)1, 4, 9 Grasemann H....Ratjen F. (Nitric Oxide 2002)
    3. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome. (PubMed id 18058820)1, 4, 9 Winkelmann J....MA1ller-Myhsok B. (Mov. Disord. 2008)
    4. Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. (PubMed id 14757827)1, 4, 9 Saur D....Allescher H.D. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    5. Expression of two types of nitric oxide synthase mRNA in human neuroblastoma cell lines. (PubMed id 7515942)1, 2, 9 Fujisawa H....Esumi H. (J. Neurochem. 1994)
    6. Association between achalasia and nitric oxide synthase gene polymorphisms. (PubMed id 16848803)1, 4, 9 Mearin F....Lanas A. (Am. J. Gastroenterol. 2006)
    7. Effects of sex and of gene variants in constitutive nitric oxide synthases on exhaled nitric oxide. (PubMed id 12531780)1, 4, 9 Grasemann H....Ratjen F. (Am. J. Respir. Crit. Care Med. 2003)
    8. Allelic association of the neuronal nitric oxide synthase (NOS1) gene with schizophrenia. (PubMed id 12140778)1, 4, 9 Shinkai T....Nakamura J. (Mol. Psychiatry 2002)
    9. Influence of NOS1 on verbal intelligence and working memory in both patients with schizophrenia and healthy control subjects. (PubMed id 19805695)1, 4, 9 Donohoe G....Corvin A. (Arch. Gen. Psychiatry 2009)
    10. Environmental exposures, nitric oxide synthase genes, and exhaled nitric oxide in asthmatic children. (PubMed id 19603529)1, 4, 9 Spanier A.J....Lanphear B.P. (Pediatr. Pulmonol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4842 HGNC: 7872 AceView: NOS1 Ensembl:ENSG00000089250 euGenes: HUgn4842
    ECgene: NOS1 Kegg: 4842 H-InvDB: NOS1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NOS1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/nos1/
    Wikipedia http://en.wikipedia.org/wiki/Nitric_oxide_synthase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NOS1 gene:
    Search GeneIP for patents involving NOS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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