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mutLBSgeneDB |
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| Gene summary for HAGH |
 Gene summary |
| Basic gene Info. | Gene symbol | HAGH |
| Gene name | hydroxyacylglutathione hydrolase | |
| Synonyms | GLO2|GLX2|GLXII|HAGH1 | |
| Cytomap | UCSC genome browser: 16p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001040427.1, NM_001286249.1,NM_005326.4, | |
| Description | glx IIglyoxalase IIhydroxyacylglutathione hydrolase, mitochondrialhydroxyacylglutathione hydroxylase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 138760 | |
| HGNC : HGNC | ||
| HPRD : 00731 | ||
| Protein | UniProt: Q16775 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HAGH | |
| BioGPS: 3029 | ||
| Pathway | NCI Pathway Interaction Database: HAGH | |
| KEGG: HAGH | ||
| REACTOME: HAGH | ||
| Pathway Commons: HAGH | ||
| Context | iHOP: HAGH | |
| ligand binding site mutation search in PubMed: HAGH | ||
| UCL Cancer Institute: HAGH | ||
| 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:0006750 | glutathione biosynthetic process | 8550579 |
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| Ligand binding site mutations for HAGH |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R297 | R297C | HNSC | 1 | E206 | E206D | STAD | 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 HAGH |
| 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 | E206 | E206D | -0.59066654 | R297 | R297C | -0.078103984 |
| (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 HAGH from PDB |
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| Differential gene expression and gene-gene network for HAGH |
| 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 HAGH |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HAGH |
| 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. |
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| 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 |  |
| Experimental | DB03889 | S-(N-Hydroxy-N-Bromophenylcarbamoyl)Glutathione | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HAGH go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of HAGH |
| Multiple alignments for Q16775 in multiple species |
| LBS | AA sequence | # species | Species | C189 | LFVAGCGKFYE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C189 | LFVAGCGKFFE | 4 | Arabidopsis thaliana, Danio rerio, Xenopus tropicalis, Gallus gallus | C201 | TADEMYKALLE | 3 | Mus musculus, Rattus norvegicus, Bos taurus | C201 | TADEMCKALLE | 1 | Homo sapiens | C201 | TAEQMYQSLCV | 1 | Arabidopsis thaliana | C201 | TADEMYKALIE | 1 | Danio rerio | C201 | TPEEMYAALIE | 1 | Xenopus tropicalis | C201 | TPEEMYRALIE | 1 | Gallus gallus | D106 | THHHWDHAGGN | 8 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus, Danio rerio, Xenopus tropicalis, Gallus gallus | D182 | AVFTGDTLFVA | 8 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus, Danio rerio, Xenopus tropicalis, Gallus gallus | E206 | YKALLEVLGRL | 3 | Mus musculus, Rattus norvegicus, Bos taurus | E206 | CKALLEVLGRL | 1 | Homo sapiens | E206 | YQSLCVTLAAL | 1 | Arabidopsis thaliana | E206 | YKALIEVLGRL | 1 | Danio rerio | E206 | YAALIEVLGRL | 1 | Xenopus tropicalis | E206 | YRALIEILGSL | 1 | Gallus gallus | E299 | RAIRREKDQFK | 2 | Mus musculus, Rattus norvegicus | E299 | RAVRREKDQFK | 1 | Homo sapiens | E299 | REVRNKKDQWR | 1 | Arabidopsis thaliana | E299 | RAIRKEKDQFK | 1 | Bos taurus | E299 | RSIRKEKDGFR | 1 | Danio rerio | E299 | GAIRKEKDHFK | 1 | Xenopus tropicalis | E299 | GAIRKEKDNFR | 1 | Gallus gallus | F185 | TGDTLFVAGCG | 8 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus, Danio rerio, Xenopus tropicalis, Gallus gallus | G190 | FVAGCGKFYEG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G190 | FVAGCGKFFEG | 4 | Arabidopsis thaliana, Danio rerio, Xenopus tropicalis, Gallus gallus | H102 | TVLTTHHHWDH | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Danio rerio, Xenopus tropicalis | H102 | FVLTTHHHWDH | 1 | Arabidopsis thaliana | H102 | SVLTTHHHWDH | 1 | Gallus gallus | H104 | LTTHHHWDHAG | 8 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus, Danio rerio, Xenopus tropicalis, Gallus gallus | H107 | HHHWDHAGGNE | 8 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus, Danio rerio, Xenopus tropicalis, Gallus gallus | H158 | LSTPCHTSGHI | 3 | Mus musculus, Rattus norvegicus, Bos taurus | H158 | LATPCHTSGHI | 1 | Homo sapiens | H158 | LHTPCHTKGHI | 1 | Arabidopsis thaliana | H158 | LFTPCHTSGHI | 1 | Danio rerio | H158 | LYTPCHTSGHI | 1 | Xenopus tropicalis | H158 | LCTPCHTSGHI | 1 | Gallus gallus | H221 | RVYCGHEYTIN | 5 | Homo sapiens, Bos taurus, Danio rerio, Xenopus tropicalis, Gallus gallus | H221 | QVYCGHEYTVK | 1 | Arabidopsis thaliana | H221 | KVYCGHEYTVN | 1 | Mus musculus | H221 | KVICGHEYTVN | 1 | Rattus norvegicus | H233 | LKFARHVEPGN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H233 | LKFARHVEPNN | 2 | Danio rerio, Gallus gallus | H233 | LEFALTVEPNN | 1 | Arabidopsis thaliana | H233 | LKFARHVEPDN | 1 | Bos taurus | H233 | LKFARHVEPCN | 1 | Xenopus tropicalis | H283 | KTVQQHAGETD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H283 | PEIQEKLGCKS | 1 | Arabidopsis thaliana | H283 | KTVQQHAGETE | 1 | Bos taurus | H283 | KSVLEHAGTSD | 1 | Danio rerio | H283 | KSVQEHAGERD | 1 | Xenopus tropicalis | H283 | KTVQEHAGETD | 1 | Gallus gallus | K191 | VAGCGKFYEGT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K191 | VAGCGKFFEGT | 4 | Arabidopsis thaliana, Danio rerio, Xenopus tropicalis, Gallus gallus | K202 | ADEMYKALLEV | 3 | Mus musculus, Rattus norvegicus, Bos taurus | K202 | ADEMCKALLEV | 1 | Homo sapiens | K202 | AEQMYQSLCVT | 1 | Arabidopsis thaliana | K202 | ADEMYKALIEV | 1 | Danio rerio | K202 | PEEMYAALIEV | 1 | Xenopus tropicalis | K202 | PEEMYRALIEI | 1 | Gallus gallus | K300 | AIRREKDQFKV | 2 | Mus musculus, Rattus norvegicus | K300 | AVRREKDQFKM | 1 | Homo sapiens | K300 | EVRNKKDQWRG | 1 | Arabidopsis thaliana | K300 | AIRKEKDQFKM | 1 | Bos taurus | K300 | SIRKEKDGFRV | 1 | Danio rerio | K300 | AIRKEKDHFKV | 1 | Xenopus tropicalis | K300 | AIRKEKDNFRV | 1 | Gallus gallus | R297 | TMRAIRREKDQ | 2 | Mus musculus, Rattus norvegicus | R297 | TMRAVRREKDQ | 1 | Homo sapiens | R297 | TMREVRNKKDQ | 1 | Arabidopsis thaliana | R297 | TMRAIRKEKDQ | 1 | Bos taurus | R297 | AMRSIRKEKDG | 1 | Danio rerio | R297 | TMGAIRKEKDH | 1 | Xenopus tropicalis | R297 | TMGAIRKEKDN | 1 | Gallus gallus | Y193 | GCGKFYEGTAD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Y193 | GCGKFFEGTPE | 2 | Xenopus tropicalis, Gallus gallus | Y193 | GCGKFFEGTAE | 1 | Arabidopsis thaliana | Y193 | GCGKFFEGTAD | 1 | Danio rerio | Y223 | YCGHEYTINNL | 5 | Homo sapiens, Bos taurus, Danio rerio, Xenopus tropicalis, Gallus gallus | Y223 | YCGHEYTVKNL | 1 | Arabidopsis thaliana | Y223 | YCGHEYTVNNL | 1 | Mus musculus | Y223 | ICGHEYTVNNL | 1 | Rattus norvegicus |
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