mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 AADAT
Gene summary
Basic gene Info.Gene symbolAADAT
Gene nameaminoadipate aminotransferase
SynonymsKAT2|KATII
CytomapUCSC genome browser: 4q33
Type of geneprotein-coding
RefGenesNM_001286682.1,
NM_001286683.1,NM_016228.3,NM_182662.1,
Description2-aminoadipate aminotransferase2-aminoadipate transaminaseKAT/AadATL kynurenine/alpha aminoadipate aminotransferasealpha-aminoadipate aminotransferasekynurenine aminotransferase IIkynurenine--oxoglutarate aminotransferase IIkynurenine--oxoglutarate
Modification date20141207
dbXrefs MIM : 611754
HGNC : HGNC
Ensembl : ENSG00000109576
HPRD : 12392
Vega : OTTHUMG00000160912
ProteinUniProt: Q8N5Z0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_AADAT
BioGPS: 51166
PathwayNCI Pathway Interaction Database: AADAT
KEGG: AADAT
REACTOME: AADAT
Pathway Commons: AADAT
ContextiHOP: AADAT
ligand binding site mutation search in PubMed: AADAT
UCL Cancer Institute: AADAT
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:00061032-oxoglutarate metabolic process18620547
GO:0006536glutamate metabolic process18620547
GO:0070189kynurenine metabolic process18620547
GO:0097052L-kynurenine metabolic process18620547


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Ligand binding site mutations for AADAT
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
Y233Y233CKIRC1
Q289H287LLUSC1
M33S35FSKCM1
I19P18SSKCM1
M33M33ISKCM1
M33S32LUCEC1
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 AADAT
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
Y233Y233C-1.2689626
I19P18S-1.0931273
M33S35F-0.48466482
Q289H287L-0.45691197
M33S32L-0.38239642
M33M33I-0.29517188
(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 AADAT from PDB

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Differential gene expression and gene-gene network for AADAT
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 AADAT and the right PPI network was created from samples without mutations in the LBS of AADAT. 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 AADAT
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for AADAT

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
NutraceuticalDB00114Pyridoxal PhosphateSmall molecule
NutraceuticalDB00142L-Glutamic AcidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of AADAT go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
KYNL-KYNURENINE2r2nAI19
KYNL-KYNURENINE2r2nBI19
KYNL-KYNURENINE2r2nCI19
KYNL-KYNURENINE2r2nDI19
0X1(5-HYDROXY-6-METHYL-4-{[(1-OXO-7-PHENOXY-1,2-DIHYDRO[1, 2,4]TRIAZOLO[4,3-A]QUINOLIN-4-YL)AMINO]METHYL}PYRIDIN- 3-YL)METHYL DIHYDROGEN PHOSPHATE4gdyAI19
0KE(5-HYDROXY-4-{[(1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3- YL)METHYL DIHYDROGEN PHOSPHATE4ge4AI19
0KE(5-HYDROXY-4-{[(1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3- YL)METHYL DIHYDROGEN PHOSPHATE4ge4BI19
0K5(5-HYDROXY-4-{[(1-HYDROXY-2-OXO-6-PHENOXY-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3- YL)METHYL DIHYDROGEN PHOSPHATE4ge7AI19
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9AI19
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9BI19
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9DI19
0LD(5-HYDROXY-4-{[(7-HYDROXY-6-OXO-2-PHENYL-6,7-DIHYDRO- 2H-PYRAZOLO[3,4-B]PYRIDIN-5-YL)AMINO]METHYL}-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4gebBI19
0X1(5-HYDROXY-6-METHYL-4-{[(1-OXO-7-PHENOXY-1,2-DIHYDRO[1, 2,4]TRIAZOLO[4,3-A]QUINOLIN-4-YL)AMINO]METHYL}PYRIDIN- 3-YL)METHYL DIHYDROGEN PHOSPHATE4gdyBI19 M33
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9CI19 Q289
PMPPYRIDOXAMINE 5'-PHOSPHATE2r2nAY233
PMPPYRIDOXAMINE 5'-PHOSPHATE2r2nBY233
PMPPYRIDOXAMINE 5'-PHOSPHATE2r2nCY233
PMPPYRIDOXAMINE 5'-PHOSPHATE2r2nDY233
PLPPYRIDOXAL 5'-PHOSPHATE2xh1AY233
PLPPYRIDOXAL 5'-PHOSPHATE2xh1BY233
09M(5-HYDROXY-4-{[(1-HYDROXY-2-OXO-1,2-DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3-YL)METHYLDIHYDROGEN PHOSPHATE3ue8AY233
09M(5-HYDROXY-4-{[(1-HYDROXY-2-OXO-1,2-DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3-YL)METHYLDIHYDROGEN PHOSPHATE3ue8BY233
0X1(5-HYDROXY-6-METHYL-4-{[(1-OXO-7-PHENOXY-1,2-DIHYDRO[1, 2,4]TRIAZOLO[4,3-A]QUINOLIN-4-YL)AMINO]METHYL}PYRIDIN- 3-YL)METHYL DIHYDROGEN PHOSPHATE4gdyAY233
0X1(5-HYDROXY-6-METHYL-4-{[(1-OXO-7-PHENOXY-1,2-DIHYDRO[1, 2,4]TRIAZOLO[4,3-A]QUINOLIN-4-YL)AMINO]METHYL}PYRIDIN- 3-YL)METHYL DIHYDROGEN PHOSPHATE4gdyBY233
0KE(5-HYDROXY-4-{[(1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3- YL)METHYL DIHYDROGEN PHOSPHATE4ge4AY233
0KE(5-HYDROXY-4-{[(1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3- YL)METHYL DIHYDROGEN PHOSPHATE4ge4BY233
0K5(5-HYDROXY-4-{[(1-HYDROXY-2-OXO-6-PHENOXY-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3- YL)METHYL DIHYDROGEN PHOSPHATE4ge7AY233
0K5(5-HYDROXY-4-{[(1-HYDROXY-2-OXO-6-PHENOXY-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-6-METHYLPYRIDIN-3- YL)METHYL DIHYDROGEN PHOSPHATE4ge7BY233
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9AY233
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9BY233
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9CY233
0L0(4-{[(6-BENZYL-1-HYDROXY-7-METHOXY-2-OXO-1,2- DIHYDROQUINOLIN-3-YL)AMINO]METHYL}-5-HYDROXY-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4ge9DY233
0LD(5-HYDROXY-4-{[(7-HYDROXY-6-OXO-2-PHENYL-6,7-DIHYDRO- 2H-PYRAZOLO[3,4-B]PYRIDIN-5-YL)AMINO]METHYL}-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4gebAY233
0LD(5-HYDROXY-4-{[(7-HYDROXY-6-OXO-2-PHENYL-6,7-DIHYDRO- 2H-PYRAZOLO[3,4-B]PYRIDIN-5-YL)AMINO]METHYL}-6- METHYLPYRIDIN-3-YL)METHYL DIHYDROGEN PHOSPHATE4gebBY233


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Conservation information for LBS of AADAT
Multiple alignments for Q8N5Z0 in multiple species
LBSAA sequence# speciesSpecies
D230FLIIEDDPYYF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F355PKAGMFLWIKV2Mus musculus, Rattus norvegicus
F355PAAGMFLWIKV1Homo sapiens
F355PTAGMFLWVKI1Bos taurus
G116LCITSGCQDGL2Mus musculus, Rattus norvegicus
G116LCVTSGSQQGL1Homo sapiens
G116LCVTCGSQEGL1Bos taurus
G38MISLAGGLPNP1Homo sapiens
G38LISLAPGSPNP1Mus musculus
G38IISLAPGSPNP1Rattus norvegicus
G38VISLATGAPNP1Bos taurus
G39ISLAGGLPNPN1Homo sapiens
G39ISLAPGSPNPS1Mus musculus
G39ISLAPGSPNPK1Rattus norvegicus
G39ISLATGAPNPN1Bos taurus
I19RNPSPIRTMTD1Homo sapiens
I19RKPSPIRTTAD1Mus musculus
I19RKTSPIRATVE1Rattus norvegicus
I19RKPSTIRVMTE1Bos taurus
K263ADSFSKIISSG1Homo sapiens
K263ADTFSKTVSSG1Mus musculus
K263ADSLSKVISSG1Rattus norvegicus
K263ADSFSKVLSSG1Bos taurus
L121GSQQGLCKVFE1Homo sapiens
L121GCQDGLCKAFE1Mus musculus
L121GCQDGLCKVFE1Rattus norvegicus
L121GSQEGLCKVFE1Bos taurus
L293IQVSTLHPSTF1Homo sapiens
L293TQVSSVHACTL1Mus musculus
L293TQISSLHPCTL1Rattus norvegicus
L293IQVSTMHPSTF1Bos taurus
L40SLAGGLPNPNM1Homo sapiens
L40SLAPGSPNPSM1Mus musculus
L40SLAPGSPNPKV1Rattus norvegicus
L40SLATGAPNPNT1Bos taurus
M33RGPKSMISLAG1Homo sapiens
M33KAPKTLISLAP1Mus musculus
M33RAPKDIISLAP1Rattus norvegicus
M33KAPKSVISLAT1Bos taurus
N202VPNGNNPTGNS2Homo sapiens, Mus musculus
N202IPNGNNPTGNS1Rattus norvegicus
N202VPNGNNPSGNS1Bos taurus
P232IIEDDPYYFLQ3Homo sapiens, Mus musculus, Rattus norvegicus
P232IIEDDPYYFMQ1Bos taurus
P76ALQYSPSAGIP1Homo sapiens
P76ALQYSPSYGIP1Mus musculus
P76ALQYSSSYGIP1Rattus norvegicus
P76ALQYSQSAGIP1Bos taurus
Q118ITSGCQDGLCK2Mus musculus, Rattus norvegicus
Q118VTSGSQQGLCK1Homo sapiens
Q118VTCGSQEGLCK1Bos taurus
Q289VILHIQVSTLH1Homo sapiens
Q289IVLHTQVSSVH1Mus musculus
Q289IVLHTQISSLH1Rattus norvegicus
Q289IVLHIQVSTMH1Bos taurus
R20NPSPIRTMTDI1Homo sapiens
R20KPSPIRTTADI1Mus musculus
R20KTSPIRATVEI1Rattus norvegicus
R20KPSTIRVMTEI1Bos taurus
R270ISSGLRIGFLT1Homo sapiens
R270VSSGLRVGFMT1Mus musculus
R270ISSGLRVGFIT1Rattus norvegicus
R270LSSGLRIGFIT1Bos taurus
R399PSPYLRASFSS1Homo sapiens
R399PTSFFRASFSL1Mus musculus
R399PSSFFRASFSQ1Rattus norvegicus
R399PCPYFRASFSS1Bos taurus
S117CITSGCQDGLC2Mus musculus, Rattus norvegicus
S117CVTSGSQQGLC1Homo sapiens
S117CVTCGSQEGLC1Bos taurus
S260VIRADSFSKII1Homo sapiens
S260VIRADTFSKTV1Mus musculus
S260VIRADSLSKVI1Rattus norvegicus
S260VIRADSFSKVL1Bos taurus
S262RADSFSKIISS1Homo sapiens
S262RADTFSKTVSS1Mus musculus
S262RADSLSKVISS1Rattus norvegicus
S262RADSFSKVLSS1Bos taurus
S75RALQYSPSAGI1Homo sapiens
S75RALQYSPSYGI1Mus musculus
S75RALQYSSSYGI1Rattus norvegicus
S75RALQYSQSAGI1Bos taurus
S77LQYSPSAGIPE1Homo sapiens
S77LQYSPSYGIPE1Mus musculus
S77LQYSSSYGIPE1Rattus norvegicus
S77LQYSQSAGIPE1Bos taurus
T23PIRTMTDILSR1Homo sapiens
T23PIRTTADILSK1Mus musculus
T23PIRATVEIMSR1Rattus norvegicus
T23TIRVMTEILSK1Bos taurus
V197KFLYTVPNGNN3Homo sapiens, Mus musculus, Bos taurus
V197KFLYTIPNGNN1Rattus norvegicus
Y142LDEPAYSGTLQ1Homo sapiens
Y142VNEPLFPGTLY1Mus musculus
Y142VNEPLYSGALF1Rattus norvegicus
Y142VNEPIYSGTIH1Bos taurus
Y233IEDDPYYFLQF3Homo sapiens, Mus musculus, Rattus norvegicus
Y233IEDDPYYFMQF1Bos taurus
Y74KRALQYSPSAG1Homo sapiens
Y74KRALQYSPSYG1Mus musculus
Y74QRALQYSSSYG1Rattus norvegicus
Y74KRALQYSQSAG1Bos taurus


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