mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NOS1
Gene summary
Basic gene Info.Gene symbolNOS1
Gene namenitric oxide synthase 1 (neuronal)
SynonymsIHPS1|N-NOS|NC-NOS|NOS|bNOS|nNOS
CytomapUCSC genome browser: 12q24.22
Type of geneprotein-coding
RefGenesNM_000620.4,
NM_001204213.1,NM_001204214.1,NM_001204218.1,
DescriptionNOS type Iconstitutive NOSneuronal NOSnitric oxide synthase, brainpeptidyl-cysteine S-nitrosylase NOS1
Modification date20141207
dbXrefs MIM : 163731
HGNC : HGNC
Ensembl : ENSG00000089250
HPRD : 01226
Vega : OTTHUMG00000137376
ProteinUniProt: P29475
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NOS1
BioGPS: 4842
PathwayNCI Pathway Interaction Database: NOS1
KEGG: NOS1
REACTOME: NOS1
Pathway Commons: NOS1
ContextiHOP: NOS1
ligand binding site mutation search in PubMed: NOS1
UCL Cancer Institute: NOS1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0009408response to heat18048451
GO:0045909positive regulation of vasodilation18048451


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Ligand binding site mutations for NOS1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 : non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R601V600ICOAD2
W414R415QBRCA1
W414R415WBRCA1
M383A381TCOAD1
W414R415QCOAD1
V572V572MCOAD1
Q483Q483PCOAD1
V572V572MGBM1
R419R419CGBM1
R419R419HGBM1
R601R601CKIRC1
M594G595VLUAD1
E387E387KSKCM1
W414R415QSTAD1
R419R419HSTAD1
S462A463VUCEC1
V572V572MUCEC1
R486A488TUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for NOS1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
V572V572M-1.2752289
R419R419H-0.90200296
M383A381T-0.901806
E387E387K-0.88517302
R601V600I-0.85902098
W414R415Q-0.82445669
S462A463V-0.79696156
R419R419C-0.65490216
W414R415W-0.52069212
Q483Q483P-0.31942452
R486A488T-0.26864164
R601R601C-0.17405475
M594G595V-0.080877253
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NOS1 from PDB
PDB IDPDB titlePDB structure
4D1NStructure of human nNOS heme domain with L-Arg bound

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Differential gene expression and gene-gene network for NOS1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NOS1 and the right PPI network was created from samples without mutations in the LBS of NOS1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for NOS1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0036341Schizophrenia20AlteredExpression, Biomarker, GeneticVariation
umls:C1867403Pyloric Stenosis, Infantile Hypertrophic 16Biomarker, GeneticVariation
umls:C0011581Depressive Disorder4Biomarker
umls:C0011854Diabetes Mellitus, Type 13Biomarker
umls:C0020429Hyperalgesia2Biomarker
umls:C0004936Mental Disorders2Biomarker
umls:C0036572Seizures2Biomarker
umls:C0027746Nerve Degeneration2Biomarker
umls:C0236733Amphetamine-Related Disorders1Biomarker
umls:C0003130Anoxia1Biomarker
umls:C0015967Fever1Biomarker
umls:C0021845Intestinal Perforation1Biomarker
umls:C0026552Morphine Dependence1Biomarker
umls:C0027765Nervous System Diseases1Biomarker
umls:C0034531Radiation Injuries, Experimental1Biomarker
umls:C0038220Status Epilepticus1Biomarker
umls:C0751792Trauma, Nervous System1Biomarker
umls:C0042035Urination Disorders1Biomarker
umls:C0600519Ventricular Remodeling1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for NOS1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00155L-CitrullineSmall molecule
ExperimentalDB01821L-N(Omega)-Nitroarginine-2,4-L-Diaminobutyric AmideSmall molecule
ExperimentalDB01942Formic AcidSmall molecule
ExperimentalDB019973-Bromo-7-NitroindazoleSmall molecule
ExperimentalDB02027N-{(4s)-4-Amino-5-[(2-Aminoethyl)Amino]Pentyl}-N'-NitroguanidineSmall molecule
ExperimentalDB02044N-(3-(Aminomethyl)Benzyl)AcetamidineSmall molecule
ExperimentalDB02077L-N(Omega)-Nitroarginine-(4r)-Amino-L-Proline AmideSmall molecule
ExperimentalDB02143N-Isopropyl-N'-HydroxyguanidineSmall molecule
ExperimentalDB02644N-Omega-Propyl-L-ArginineSmall molecule
ExperimentalDB02692(6r,1'r,2's)-5,6,7,8 TetrahydrobiopterinSmall molecule
ExperimentalDB02727N-Butyl-N'-HydroxyguanidineSmall molecule
ExperimentalDB02991S-Ethyl-N-[4-(Trifluoromethyl)Phenyl]IsothioureaSmall molecule
ExperimentalDB03144N-Omega-Hydroxy-L-ArginineSmall molecule
ApprovedDB03147Flavin adenine dinucleotideSmall molecule
ExperimentalDB03247Riboflavin MonophosphateSmall molecule
ExperimentalDB03449N-(4-(2-((3-Chlorophenylmethyl)Amino)Ethyl)Phenyl)-2-ThiophecarboxamidineSmall molecule
ExperimentalDB034612'-Monophosphoadenosine 5'-DiphosphoriboseSmall molecule
ExperimentalDB03707S-Ethyl-N-Phenyl-IsothioureaSmall molecule
ExperimentalDB03710N5-(1-Imino-3-Butenyl)-L-OrnithineSmall molecule
ExperimentalDB038925-N-Allyl-ArginineSmall molecule
ExperimentalDB04223NitroarginineSmall molecule
InvestigationalDB06096NXN-188Small molecule
ExperimentalDB08018N-{(3S,4S)-4-[(6-AMINO-4-METHYLPYRIDIN-2-YL)METHYL]PYRROLIDIN-3-YL}-N'-(4-CHLOROBENZYL)ETHANE-1,2-DIAMINESmall molecule
ExperimentalDB08019N-{(3R,4S)-4-[(6-amino-4-methylpyridin-2-yl)methyl]pyrrolidin-3-yl}-N'-(3-chlorobenzyl)ethane-1,2-diamineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NOS1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
XEB7-[[4-CHLORANYL-3-(METHYLAMINOMETHYL)PHENOXY] METHYL]QUINOLIN-2-AMINE5adgBM383 E387
TUE7-[[5-[(METHYLIDENEAMINO)METHYL]PYRIDIN-3-YL] OXYMETHYL]QUINOLIN-2-AMINE5adiBM383 E387
EXIN1-(5-(2-(6-AMINO-4-METHYLPYRIDIN-2-YL)ETHYL) PYRIDIN-3-YL)-N1,N2-DIMETHYLETHANE-1,2-DIAMINE4uh5BQ483 R486 V572
EXIN1-(5-(2-(6-AMINO-4-METHYLPYRIDIN-2-YL)ETHYL) PYRIDIN-3-YL)-N1,N2-DIMETHYLETHANE-1,2-DIAMINE4uh5AQ483 R486 V572 R601
Q1T3-(2-(6-AMINO-4-METHYLPYRIDIN-2-YL)ETHYL)-5- (METHYL(2-(METHYLAMINO)ETHYL)AMINO) BENZONITRILE4uh6AQ483 R486 V572 R601
Q1T3-(2-(6-AMINO-4-METHYLPYRIDIN-2-YL)ETHYL)-5- (METHYL(2-(METHYLAMINO)ETHYL)AMINO) BENZONITRILE4uh6BQ483 R486 V572 R601
ARGARGININE4d1nAQ483 V572
ARGARGININE4d1nBQ483 V572
ARGARGININE4d1nCQ483 V572
ARGARGININE4d1nDQ483 V572
OLW2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL]-N-(3- CYANOBENZYL)ETHAN-1-AMINE3-[({2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL] ETHYL}AMINO)METHYL]BENZONITRILE4uchAQ483 V572
OLW2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL]-N-(3- CYANOBENZYL)ETHAN-1-AMINE3-[({2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL] ETHYL}AMINO)METHYL]BENZONITRILE4uchBQ483 V572
EG8N-{2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL] ETHYL}-3-(PYRIDIN-3-YL)PROPAN-1-AMINE4v3uAQ483 V572
EG8N-{2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL] ETHYL}-3-(PYRIDIN-3-YL)PROPAN-1-AMINE4v3uBQ483 V572
EG8N-{2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL] ETHYL}-3-(PYRIDIN-3-YL)PROPAN-1-AMINE4v3uCQ483 V572
EG8N-{2-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL] ETHYL}-3-(PYRIDIN-3-YL)PROPAN-1-AMINE4v3uDQ483 V572
2SN7-[[[3-[(DIMETHYLAMINO)METHYL]PHENYL]AMINO] METHYL]QUINOLIN-2-AMINE5adfAQ483 V572
2SN7-[[[3-[(DIMETHYLAMINO)METHYL]PHENYL]AMINO] METHYL]QUINOLIN-2-AMINE5adfBQ483 V572
H4B5,6,7,8-TETRAHYDROBIOPTERIN4d1nAR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4d1nBR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4d1nCR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4d1nDR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4uchAR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4uchBR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4v3uAR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4v3uBR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4v3uCR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4v3uDR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4uh5AR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4uh5BR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4uh6AR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN4uh6BR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN5adfAR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN5adfBR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN5adgAR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN5adgBR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN5adiAR601
H4B5,6,7,8-TETRAHYDROBIOPTERIN5adiBR601
XEB7-[[4-CHLORANYL-3-(METHYLAMINOMETHYL)PHENOXY] METHYL]QUINOLIN-2-AMINE5adgAV572
XEB7-[[4-CHLORANYL-3-(METHYLAMINOMETHYL)PHENOXY] METHYL]QUINOLIN-2-AMINE5adgBV572
TUE7-[[5-[(METHYLIDENEAMINO)METHYL]PYRIDIN-3-YL] OXYMETHYL]QUINOLIN-2-AMINE5adiAV572
TUE7-[[5-[(METHYLIDENEAMINO)METHYL]PYRIDIN-3-YL] OXYMETHYL]QUINOLIN-2-AMINE5adiBV572
HEMHEME B4d1nAW414
HEMHEME B5adfAW414 R419 M594
HEMHEME B5adgAW414 R419 M594
HEMHEME B5adiAW414 R419 M594
HEMHEME B4uchAW414 R419 S462
HEMHEME B4d1nBW414 R419 S462 M594
HEMHEME B5adfBW414 R419 S462 M594
HEMHEME B5adgBW414 R419 S462 M594
HEMHEME B5adiBW414 R419 S462 M594
HEMHEME B4v3uAW414 S462
HEMHEME B4v3uBW414 S462
HEMHEME B4v3uDW414 S462
HEMHEME B4d1nCW414 S462 M594
HEMHEME B4d1nDW414 S462 M594
HEMHEME B4uchBW414 S462 M594
HEMHEME B4v3uCW414 S462 M594
HEMHEME B4uh5AW414 S462 M594
HEMHEME B4uh5BW414 S462 M594
HEMHEME B4uh6AW414 S462 M594
HEMHEME B4uh6BW414 S462 M594


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Conservation information for LBS of NOS1
Multiple alignments for P29475 in multiple species
LBSAA sequence# speciesSpecies
A417HAWRNASRCVG3Homo sapiens, Mus musculus, Rattus norvegicus
A417LAWRNSSRCIG1Drosophila melanogaster
C420RNASRCVGRIQ3Homo sapiens, Mus musculus, Rattus norvegicus
C420RNSSRCIGRIQ1Drosophila melanogaster
D394VNKEIESTSTY2Mus musculus, Rattus norvegicus
D394VNKEIDTTSTY1Homo sapiens
D394VRQSIETTGHY1Drosophila melanogaster
E387HMDRLEEVNKE2Mus musculus, Rattus norvegicus
E387HMERLEEVNKE1Homo sapiens
E387HETRWKQVRQS1Drosophila melanogaster
E597WYMGTEIGVRD3Homo sapiens, Mus musculus, Rattus norvegicus
E597WYMSTEIGSRN1Drosophila melanogaster
F360TKDQLFPLAKE2Mus musculus, Rattus norvegicus
F360TKGQLFPLAKE1Homo sapiens
F360KSDLILEHAKD1Drosophila melanogaster
F589FSACPFSGWYM3Homo sapiens, Mus musculus, Rattus norvegicus
F589FTATTFSGWYM1Drosophila melanogaster
F709RLTPSFEYQPD3Homo sapiens, Mus musculus, Rattus norvegicus
F709YLKPSFEYQDP1Drosophila melanogaster
G422ASRCVGRIQWS3Homo sapiens, Mus musculus, Rattus norvegicus
G422SSRCIGRIQWS1Drosophila melanogaster
G591ACPFSGWYMGT3Homo sapiens, Mus musculus, Rattus norvegicus
G591ATTFSGWYMST1Drosophila melanogaster
H342MGSIMHPSQHA1Homo sapiens
H342TSSIMNIGNAA1Drosophila melanogaster
H342MGSIMLPSHHI1Mus musculus
H342MGSIMLPSQHT1Rattus norvegicus
I393EVNKEIESTST2Mus musculus, Rattus norvegicus
I393EVNKEIDTTST1Homo sapiens
I393QVRQSIETTGH1Drosophila melanogaster
K364LFPLAKEFLDQ2Mus musculus, Rattus norvegicus
K364LFPLAKEFIDQ1Homo sapiens
K364ILEHAKDFLEQ1Drosophila melanogaster
L386AHMDRLEEVNK2Mus musculus, Rattus norvegicus
L386AHMERLEEVNK1Homo sapiens
L386AHETRWKQVRQ1Drosophila melanogaster
L429IQWSKLQVFDA3Homo sapiens, Mus musculus, Rattus norvegicus
L429IQWSKLQVFDC1Drosophila melanogaster
M341CMGSIMHPSQH1Homo sapiens
M341CTSSIMNIGNA1Drosophila melanogaster
M341CMGSIMLPSHH1Mus musculus
M341CMGSIMLPSQH1Rattus norvegicus
M383GSKAHMDRLEE2Mus musculus, Rattus norvegicus
M383GSKAHMERLEE1Homo sapiens
M383SSTAHETRWKQ1Drosophila melanogaster
M575PAVSNMLLEIG3Homo sapiens, Mus musculus, Rattus norvegicus
M575PAVSSMLFDVG1Drosophila melanogaster
M594FSGWYMGTEIG3Homo sapiens, Mus musculus, Rattus norvegicus
M594FSGWYMSTEIG1Drosophila melanogaster
N390RLEEVNKEIES2Mus musculus, Rattus norvegicus
N390RLEEVNKEIDT1Homo sapiens
N390RWKQVRQSIET1Drosophila melanogaster
N574LPAVSNMLLEI3Homo sapiens, Mus musculus, Rattus norvegicus
N574LPAVSSMLFDV1Drosophila melanogaster
P570KWYGLPAVSNM3Homo sapiens, Mus musculus, Rattus norvegicus
P570RWYALPAVSSM1Drosophila melanogaster
Q483RVWNSQLIRYA3Homo sapiens, Mus musculus, Rattus norvegicus
Q483RIWNNQLISYA1Drosophila melanogaster
R419WRNASRCVGRI3Homo sapiens, Mus musculus, Rattus norvegicus
R419WRNSSRCIGRI1Drosophila melanogaster
R486NSQLIRYAGYK3Homo sapiens, Mus musculus, Rattus norvegicus
R486NNQLISYAGYK1Drosophila melanogaster
R601TEIGVRDYCDN3Homo sapiens, Mus musculus, Rattus norvegicus
R601TEIGSRNLCDT1Drosophila melanogaster
S462KGNLRSAITIF4Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus
S482FRVWNSQLIRY3Homo sapiens, Mus musculus, Rattus norvegicus
S482YRIWNNQLISY1Drosophila melanogaster
S590SACPFSGWYMG3Homo sapiens, Mus musculus, Rattus norvegicus
S590TATTFSGWYMS1Drosophila melanogaster
V421NASRCVGRIQW3Homo sapiens, Mus musculus, Rattus norvegicus
V421NSSRCIGRIQW1Drosophila melanogaster
V572YGLPAVSNMLL3Homo sapiens, Mus musculus, Rattus norvegicus
V572YALPAVSSMLF1Drosophila melanogaster
W414GAKHAWRNASR3Homo sapiens, Mus musculus, Rattus norvegicus
W414GAKLAWRNSSR1Drosophila melanogaster
W592CPFSGWYMGTE3Homo sapiens, Mus musculus, Rattus norvegicus
W592TTFSGWYMSTE1Drosophila melanogaster
W683PADWVWIVPPM3Homo sapiens, Mus musculus, Rattus norvegicus
W683PADWIWIVPPL1Drosophila melanogaster
Y593PFSGWYMGTEI3Homo sapiens, Mus musculus, Rattus norvegicus
Y593TFSGWYMSTEI1Drosophila melanogaster
Y711TPSFEYQPDPW3Homo sapiens, Mus musculus, Rattus norvegicus
Y711KPSFEYQDPAW1Drosophila melanogaster


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