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 SIRT3
Gene summary
Basic gene Info.Gene symbolSIRT3
Gene namesirtuin 3
SynonymsSIR2L3
CytomapUCSC genome browser: 11p15.5
Type of geneprotein-coding
RefGenesNM_001017524.2,
NM_012239.5,
DescriptionNAD-dependent deacetylase sirtuin-3, mitochondrialNAD-dependent protein deacetylase sirtuin-3, mitochondrialSIR2-like protein 3mitochondrial nicotinamide adenine dinucleotide-dependent deacetylaseregulatory protein SIR2 homolog 3silent mating type in
Modification date20141207
dbXrefs MIM : 604481
HGNC : HGNC
Ensembl : ENSG00000142082
HPRD : 06836
Vega : OTTHUMG00000119074
ProteinUniProt: Q9NTG7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SIRT3
BioGPS: 23410
PathwayNCI Pathway Interaction Database: SIRT3
KEGG: SIRT3
REACTOME: SIRT3
Pathway Commons: SIRT3
ContextiHOP: SIRT3
ligand binding site mutation search in PubMed: SIRT3
UCL Cancer Institute: SIRT3
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:0006476protein deacetylation16788062


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Ligand binding site mutations for SIRT3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Y165L164MBRCA1
T150,I154S152NCOAD1
I291I291SCOAD1
L173,Y171D172EGBM1
P191F192LHNSC1
C280P281SHNSC1
R335A333THNSC1
G295G295WKIRC1
R345R345LLUAD1
W353P355LTHCA1
R345R345QUCEC1
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 SIRT3
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
W353P355L0.00830903
I291I291S-1.922847
Y165L164M-1.4929107
C280P281S-1.4808736
R345R345Q-1.1497709
R335A333T-0.98944324
R345R345L-0.65991082
T150S152N-0.61731967
I154S152N-0.61731967
P191F192L-0.48106783
Y171D172E-0.44603171
L173D172E-0.44603171
G295G295W-0.043035876
(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 SIRT3 from PDB

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Differential gene expression and gene-gene network for SIRT3
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 SIRT3 and the right PPI network was created from samples without mutations in the LBS of SIRT3. 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 SIRT3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007137Carcinoma, Squamous Cell2Biomarker
umls:C0026640Mouth Neoplasms1Biomarker

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

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Pharmacological information for SIRT3
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
ExperimentalDB02059Adenosine-5-DiphosphoriboseSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SIRT3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)3glrAC280
ZNZINC(2+)3glsAC280
ZNZINC(2+)3glsBC280
ZNZINC(2+)3glsCC280
ZNZINC(2+)3glsDC280
ZNZINC(2+)3glsEC280
ZNZINC(2+)3glsFC280
ZNZINC(2+)3gltAC280
ZNZINC(2+)3gluAC280
ZNZINC(2+)4fvtAC280
ZNZINC(2+)4hd8AC280
ZNZINC(2+)4fz3AC280
ZNZINC(2+)4jsrAC280
ZNZINC(2+)4jt8AC280
ZNZINC(2+)4jt9AC280
ZNZINC(2+)4bn4AC280
ZNZINC(2+)4bn5AC280
ZNZINC(2+)4bn5BC280
ZNZINC(2+)4bn5CC280
ZNZINC(2+)4bn5DC280
ZNZINC(2+)4bn5EC280
ZNZINC(2+)4bn5FC280
ZNZINC(2+)4bn5GC280
ZNZINC(2+)4bn5HC280
ZNZINC(2+)4bn5IC280
ZNZINC(2+)4bn5JC280
ZNZINC(2+)4bn5KC280
ZNZINC(2+)4bn5LC280
ZNZINC(2+)4bv3AC280
ZNZINC(2+)4bvbAC280
ZNZINC(2+)4bveAC280
ZNZINC(2+)4bvfAC280
ZNZINC(2+)4bvgAC280
ZNZINC(2+)4bvhAC280
ZNZINC(2+)4bvhBC280
ZNZINC(2+)4bvhCC280
ZNZINC(2+)4c78AC280
ZNZINC(2+)4c7bAC280
ZNZINC(2+)4v1cAC280
ZNZINC(2+)4v1cBC280
ZNZINC(2+)4v1cEC280
ZNZINC(2+)4v1cGC280
ZNZINC(2+)4v1cIC280
ZNZINC(2+)4o8zAC280
ZNZINC(2+)5d7nAC280
ZNZINC(2+)5d7nBC280
ZNZINC(2+)5d7nCC280
ZNZINC(2+)5d7nDC280
ZNZINC(2+)5d7nEC280
ZNZINC(2+)5d7nFC280
IIIPeptide ligand (LYS,VAL,MET)3gluAG295
PITPICEATANNOL4hd8AG295
IIIPeptide ligand (THR,ARG,SER,GLY,LYS,VAL,MET,ARG)4bvgAG295
IIIPeptide ligand (GLY,LYS,VAL,MET,ARG,ARG,LEU)4c78AG295
IIIPeptide ligand (ARG,THR,LYS,GLN,THR,ALA,ARG)4v1cGG295
IIIPeptide ligand (ARG,THR,LYS,GLN,THR,ALA,ARG)4v1cIG295
IIIPeptide ligand (ARG,THR,LYS,GLN,THR,ALA,ARG)4v1cAG295 W353
IIIPeptide ligand (ARG,THR,LYS,GLN,THR,ALA,ARG)4v1cBG295 W353
IIIPeptide ligand (ARG,THR,LYS,GLN,THR,ALA,ARG)4v1cEG295 W353
IIIPeptide ligand (ARG,THR,LYS,GLN,THR,ALA,ARG)4v1cKG295 W353
1NQN-{2-[1-(6-CARBAMOYLTHIENO[3,2-D]PYRIMIDIN-4-YL) PIPERIDIN-4-YL]ETHYL}-N'-ETHYLTHIOPHENE-2,5- DICARBOXAMIDE4jsrAI154
1NS4-(4-{2-[(METHYLSULFONYL)AMINO]ETHYL}PIPERIDIN-1-YL) THIENO[3,2-D]PYRIMIDINE-6-CARBOXAMIDE4jt9AI154
SR7N-{2-[3-(PIPERAZIN-1-YLMETHYL)IMIDAZO[2,1-B] [1,3]THIAZOL-6-YL]PHENYL}QUINOXALINE-2- CARBOXAMIDE4bn5GI154
SR7N-{2-[3-(PIPERAZIN-1-YLMETHYL)IMIDAZO[2,1-B] [1,3]THIAZOL-6-YL]PHENYL}QUINOXALINE-2- CARBOXAMIDE4bn5II154
OCZ(1S)-6-CHLORO-2,3,4,9-TETRAHYDRO-1H- CARBAZOLE-1- CARBOXAMIDE4bvbAI154 I291
OCZ(1S)-6-CHLORO-2,3,4,9-TETRAHYDRO-1H- CARBAZOLE-1- CARBOXAMIDE4bvhCI154 I291
OP22-[2-[2-[2-[2-(2-HYDROXYETHYLOXY)ETHOXY] ETHOXY]ETHOXY]ETHOXY]ETHANOIC ACID4bn4AI154 Y171 P191
OCZ(1S)-6-CHLORO-2,3,4,9-TETRAHYDRO-1H- CARBAZOLE-1- CARBOXAMIDE4bv3AI291
OCZ(1S)-6-CHLORO-2,3,4,9-TETRAHYDRO-1H- CARBAZOLE-1- CARBOXAMIDE4bvhAI291
OCZ(1S)-6-CHLORO-2,3,4,9-TETRAHYDRO-1H- CARBAZOLE-1- CARBOXAMIDE4bvhBI291
IIIPeptide ligand (SER,GLY,LYS,VAL,LEU)4fvtAI291 G295
IIIPeptide ligand (ARG,HIS,LYS,LYS)4hd8AI291 G295
IIIPeptide ligand (ACE,ARG,HIS,LYS,LYS,MCM)4fz3AI291 G295
IIIPeptide ligand (ARG,HIS,LYS,LYS)4c7bAI291 G295
IIIPeptide ligand (ARG,SER,GLY,LYS,VAL,MET,ARG)3glrAI291 G295 W353
BVB5-[(E)-2-(4-BROMOPHENYL)ETHENYL]BENZENE-1,3- DIOL4c7bAL173
BVB5-[(E)-2-(4-BROMOPHENYL)ETHENYL]BENZENE-1,3- DIOL4c78AR335
IIIPeptide ligand (SER,GLY,LYS,VAL,MET,ARG)4bveAT150 G295 R345
IIIPeptide ligand (SER,GLY,LYS,VAL,MET,ARG)4bvfAT150 G295 R345 W353
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5AT150 I154 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5BT150 I154 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5CT150 I154 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5DT150 I154 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5FT150 I154 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5IT150 I154 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5JT150 I154 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5LT150 I154 R345
IIIPeptide ligand (SER,GLY,LYS,VAL,MET,ARG)3gltAT150 I291 G295 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4fvtAT150 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5ET150 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5GT150 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5HT150 R345
CNACARBA-NICOTINAMIDE-ADENINE-DINUCLEOTIDE4bn5KT150 R345
APRADP-RIBOSE4bv3AT150 R345
AR6[(2R,3S,4R,5R)-5-(6-AMINOPURIN-9-YL)-3,4-DIHYDROXY-OXOLAN-2-YL]METHYL [HYDROXY-[[(2R,3S,4R,5S)-3,4,5-TRIHYDROXYOXOLAN-2-YL]METHOXY]PHOSPHORYL] HYDROGEN PHOSPHATE4bvbAT150 R345
OAD2'-O-ACETYL ADENOSINE-5-DIPHOSPHORIBOSE4bvhAT150 R345
OAD2'-O-ACETYL ADENOSINE-5-DIPHOSPHORIBOSE4bvgAT150 Y165 I291 R345
AR6[(2R,3S,4R,5R)-5-(6-AMINOPURIN-9-YL)-3,4-DIHYDROXY-OXOLAN-2-YL]METHYL [HYDROXY-[[(2R,3S,4R,5S)-3,4,5-TRIHYDROXYOXOLAN-2-YL]METHOXY]PHOSPHORYL] HYDROGEN PHOSPHATE4bn4AT150 Y165 R345
NADNAD ZWITTERION4bv3AT150 Y165 R345
AR6[(2R,3S,4R,5R)-5-(6-AMINOPURIN-9-YL)-3,4-DIHYDROXY-OXOLAN-2-YL]METHYL [HYDROXY-[[(2R,3S,4R,5S)-3,4,5-TRIHYDROXYOXOLAN-2-YL]METHOXY]PHOSPHORYL] HYDROGEN PHOSPHATE4bvhBT150 Y165 R345
OAD2'-O-ACETYL ADENOSINE-5-DIPHOSPHORIBOSE4bvhCT150 Y165 R345
1NR4-(4-{2-[(2,2-DIMETHYLPROPANOYL)AMINO]ETHYL}PIPERIDIN- 1-YL)THIENO[3,2-D]PYRIMIDINE-6-CARBOXAMIDE4jt8AY165


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Conservation information for LBS of SIRT3
Multiple alignments for Q9NTG7 in multiple species
LBSAA sequence# speciesSpecies


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