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mutLBSgeneDB |
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| Gene summary for GGT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GGT1 |
| Gene name | gamma-glutamyltransferase 1 | |
| Synonyms | CD224|D22S672|D22S732|GGT|GGT 1|GTG | |
| Cytomap | UCSC genome browser: 22q11.23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_013421.2, NM_013430.2,NM_001032364.2,NM_001032365.2,NM_005265.3, NM_001288833.1, | |
| Description | gamma-glutamyltranspeptidase 1glutathione hydrolase 1leukotriene-C4 hydrolase | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 612346 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000100031 | ||
| HPRD : 01980 | ||
| Vega : OTTHUMG00000030859 | ||
| Protein | UniProt: P19440 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GGT1 | |
| BioGPS: 2678 | ||
| Pathway | NCI Pathway Interaction Database: GGT1 | |
| KEGG: GGT1 | ||
| REACTOME: GGT1 | ||
| Pathway Commons: GGT1 | ||
| Context | iHOP: GGT1 | |
| ligand binding site mutation search in PubMed: GGT1 | ||
| UCL Cancer Institute: GGT1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006536 | glutamate metabolic process | 24047895 | GO:0006751 | glutathione catabolic process | 17924658 | GO:0031638 | zymogen activation | 23682772 |
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| Ligand binding site mutations for GGT1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T381 | G380D | GBM | 1 | I477 | T479M | STAD | 1 | S451 | S451L | THCA | 1 |
| 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 GGT1 |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | T381 | G380D | -0.74585576 | S451 | S451L | -0.51070719 | I477 | T479M | -0.50190314 |
| (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 GGT1 from PDB |
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| Differential gene expression and gene-gene network for GGT1 |
| 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) |
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| Phenotype information for GGT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0007097 | Carcinoma | 6 | AlteredExpression, Biomarker |
| umls:C0023895 | Liver Diseases | 2 | AlteredExpression, Biomarker |
| umls:C0001973 | Alcoholism | 2 | Biomarker |
| umls:C0031099 | Periodontitis | 2 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 2 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 1 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 1 | Biomarker |
| umls:C0027051 | Myocardial Infarction | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GGT1 |
| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00143 | Glutathione | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GGT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GLU | L-GLUTAMIC ACID | 4gdx | B | S451 | GLU | L-GLUTAMIC ACID | 4gg2 | B | S451 | SEE | TRIHYDROXY(L-SERINATO-KAPPAO~3~)BORATE(1-) | 4zc6 | B | T381 S451 | GLU | L-GLUTAMIC ACID | 4zcg | B | T381 S451 | 4M8 | (2S)-2-AMINO-4-[(S)-HYDROXY(METHOXY)PHOSPHORYL]BUTANOIC ACID | 4zbk | B | T381 S451 I477 |
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| Conservation information for LBS of GGT1 |
| Multiple alignments for P19440 in multiple species |
| LBS | AA sequence | # species | Species | A472 | MVVGASGGTQI | 2 | Mus musculus, Rattus norvegicus | A472 | MVVGAAGGTQI | 1 | Homo sapiens | A472 | LVVGASGGSRI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A472 | MALGASGGSRI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A472 | MVLGGSGGSRI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A472 | AALGGAGGMHI | 1 | Arabidopsis thaliana | A472 | AAVGASGGANI | 1 | Arabidopsis thaliana | A472 | AALGASGGMYI | 1 | Arabidopsis thaliana | D423 | NDEMDDFSSPN | 2 | Mus musculus, Rattus norvegicus | D423 | NNEMDDFSSPS | 1 | Homo sapiens | D423 | NNEMDDFAQFN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D423 | NDQMDDFSIPG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D423 | NDHMDDFASPG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D423 | NNEMDDFSTPT | 1 | Arabidopsis thaliana | D423 | NNEMDDFSIPM | 1 | Arabidopsis thaliana | D423 | NNEMDDFSIPT | 1 | Arabidopsis thaliana | E420 | IVLNNEMDDFS | 3 | Arabidopsis thaliana, Arabidopsis thaliana, Arabidopsis thaliana | E420 | ILFNDEMDDFS | 2 | Mus musculus, Rattus norvegicus | E420 | ILFNNEMDDFS | 1 | Homo sapiens | E420 | VIFNNEMDDFA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E420 | VVFNDQMDDFS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E420 | IILNDHMDDFA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G473 | VVGASGGTQIT | 2 | Mus musculus, Rattus norvegicus | G473 | VVGAAGGTQIT | 1 | Homo sapiens | G473 | VVGASGGSRIT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G473 | ALGASGGSRIV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G473 | VLGGSGGSRIV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G473 | ALGGAGGMHII | 1 | Arabidopsis thaliana | G473 | AVGASGGANII | 1 | Arabidopsis thaliana | G473 | ALGASGGMYII | 1 | Arabidopsis thaliana | G474 | VGASGGTQITT | 2 | Mus musculus, Rattus norvegicus | G474 | VGAAGGTQITT | 1 | Homo sapiens | G474 | VGASGGSRITT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G474 | LGASGGSRIVT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G474 | LGGSGGSRIVT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G474 | LGGAGGMHIIP | 1 | Arabidopsis thaliana | G474 | VGASGGANIIA | 1 | Arabidopsis thaliana | G474 | LGASGGMYIIA | 1 | Arabidopsis thaliana | I477 | SGGSRIVTAVL | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I477 | SGGTQITTSVA | 2 | Mus musculus, Rattus norvegicus | I477 | AGGTQITTATA | 1 | Homo sapiens | I477 | SGGSRITTSVL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I477 | AGGMHIIPAVL | 1 | Arabidopsis thaliana | I477 | SGGANIIAGTT | 1 | Arabidopsis thaliana | I477 | SGGMYIIAGTT | 1 | Arabidopsis thaliana | N401 | ATSTINLYFGS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N401 | MTSTINGYFGA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N401 | LTTTINLLFGS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N401 | ITSTVNLLFGS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N401 | LTASINLMFGS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N401 | MTSTVNYRFGA | 1 | Arabidopsis thaliana | S451 | GKQPLSSMCPS | 2 | Mus musculus, Rattus norvegicus | S451 | GKQPLSSMCPT | 1 | Homo sapiens | S451 | GKRPLSSTAPT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S451 | FKRPQSSSAPT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S451 | GKRPQSSAVPT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S451 | NKRPLSSMTPL | 1 | Arabidopsis thaliana | S451 | GKRPLSSMSPT | 1 | Arabidopsis thaliana | S451 | GKRPLSSMTPT | 1 | Arabidopsis thaliana | S452 | KQPLSSMCPSI | 2 | Mus musculus, Rattus norvegicus | S452 | KQPLSSMCPTI | 1 | Homo sapiens | S452 | KRPLSSTAPTI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S452 | KRPQSSSAPTI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S452 | KRPQSSAVPTI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S452 | KRPLSSMTPLV | 1 | Arabidopsis thaliana | S452 | KRPLSSMSPTI | 1 | Arabidopsis thaliana | S452 | KRPLSSMTPTI | 1 | Arabidopsis thaliana | T381 | PDDGGTAHLSV | 2 | Homo sapiens, Rattus norvegicus | T381 | NNPHGTAHFSI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T381 | PISHGTTHVST | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T381 | PNDHGTTHLSV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T381 | QDDGGTAHLSA | 1 | Mus musculus | T381 | LRDQGTSHFCV | 1 | Arabidopsis thaliana | T381 | IDDHGTSHLSI | 1 | Arabidopsis thaliana | T381 | IKDHGTSHLSI | 1 | Arabidopsis thaliana | T399 | VAATSTINLYF | 2 | Mus musculus, Rattus norvegicus | T399 | VSMTSTINGYF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | T399 | VSATSTINLYF | 1 | Homo sapiens | T399 | VSLTTTINLLF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T399 | VSITSTVNLLF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T399 | VGLTASINLMF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T399 | VSMTSTVNYRF | 1 | Arabidopsis thaliana |
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