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mutLBSgeneDB |
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| Gene summary for GAD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GAD1 |
| Gene name | glutamate decarboxylase 1 (brain, 67kDa) | |
| Synonyms | CPSQ1|GAD|SCP | |
| Cytomap | UCSC genome browser: 2q31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000817.2, NM_013445.3, | |
| Description | 67 kDa glutamic acid decarboxylaseGAD-67glutamate decarboxylase 1glutamate decarboxylase 67 kDa isoform | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 605363 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000128683 | ||
| HPRD : 12011 | ||
| Vega : OTTHUMG00000044175 | ||
| Protein | UniProt: Q99259 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GAD1 | |
| BioGPS: 2571 | ||
| Pathway | NCI Pathway Interaction Database: GAD1 | |
| KEGG: GAD1 | ||
| REACTOME: GAD1 | ||
| Pathway Commons: GAD1 | ||
| Context | iHOP: GAD1 | |
| ligand binding site mutation search in PubMed: GAD1 | ||
| UCL Cancer Institute: GAD1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for GAD1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K405 | K405N | BLCA | 1 | L435 | G433A | BLCA | 1 | H404 | H404Y | BRCA | 1 | N402,H404 | P403T | COAD | 1 | A253 | A253T | COAD | 1 | A375 | G377R | SKCM | 1 | G252 | G252C | SKCM | 1 | A253 | A253T | STAD | 1 | R567 | R567Q | UCEC | 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 GAD1 |
| 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 | A375 | G377R | 0.39220838 | R567 | R567Q | -1.7592366 | N402 | P403T | -1.2405459 | H404 | P403T | -1.2405459 | K405 | K405N | -1.1502442 | L435 | G433A | -0.55086191 | G252 | G252C | -0.49874484 | A253 | A253T | -0.44183298 | H404 | H404Y | -0.44029038 |
| (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 GAD1 from PDB |
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| Differential gene expression and gene-gene network for GAD1 |
| 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 GAD1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0036341 | Schizophrenia | 43 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 5 | Biomarker, GeneticVariation |
| umls:C2751938 | Cerebral Palsy, Spastic Quadriplegic, 1 | 1 | Biomarker, GeneticVariation |
| umls:C0236736 | Cocaine-Related Disorders | 1 | Biomarker |
| umls:C0013386 | Dyskinesia, Drug-Induced | 1 | Biomarker |
| umls:C0020514 | Hyperprolactinemia | 1 | Biomarker |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GAD1 |
| 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 |
| Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule |  |
| Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GAD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLZ | 4-[({3-HYDROXY-2-METHYL-5-[(PHOSPHONOOXY)METHYL]PYRIDIN-4-YL}METHYL)AMINO]BUTANOIC ACID | 2okj | B | G252 A253 A375 N402 H404 K405 | HLD | 4-OXO-4H-PYRAN-2,6-DICARBOXYLIC ACID | 3vp6 | A | K405 R567 | HLD | 4-OXO-4H-PYRAN-2,6-DICARBOXYLIC ACID | 3vp6 | B | K405 R567 | ABU | GAMMA-AMINOBUTYRIC ACID | 2okj | A | L435 | HLD | 4-OXO-4H-PYRAN-2,6-DICARBOXYLIC ACID | 3vp6 | A | L435 | ABU | GAMMA-AMINOBUTYRIC ACID | 2okj | A | R567 | ABU | GAMMA-AMINOBUTYRIC ACID | 2okj | B | R567 |
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| Conservation information for LBS of GAD1 |
| Multiple alignments for Q99259 in multiple species |
| LBS | AA sequence | # species | Species | A253 | FSPGGAISNMY | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | A253 | LAPGGSISNLY | 1 | Drosophila melanogaster | A375 | LHVDAAWGGGL | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | A375 | MHIDAAWGGGL | 1 | Drosophila melanogaster | C455 | DKAIQCGRHVD | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | C455 | DKVIQCGRHND | 1 | Drosophila melanogaster | D373 | LWLHVDAAWGG | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | D373 | CWMHIDAAWGG | 1 | Drosophila melanogaster | F214 | ANTNMFTYEIA | 7 | Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | G251 | GIFSPGGAISN | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | G251 | SILAPGGSISN | 1 | Drosophila melanogaster | G252 | IFSPGGAISNM | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | G252 | ILAPGGSISNL | 1 | Drosophila melanogaster | G346 | VNATAGTTVYG | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | G346 | VNATAGTTVLG | 1 | Drosophila melanogaster | G456 | KAIQCGRHVDI | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | G456 | KVIQCGRHNDI | 1 | Drosophila melanogaster | H291 | TSEHSHYSIKK | 4 | Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | H291 | TSEQSHYSIKK | 2 | Homo sapiens, Pan troglodytes | H291 | TSDQCHYSIKS | 1 | Drosophila melanogaster | H404 | VTWNPHKMMGV | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | H404 | VTWNPHKLMGA | 1 | Drosophila melanogaster | K405 | TWNPHKMMGVL | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | K405 | TWNPHKLMGAL | 1 | Drosophila melanogaster | L191 | RFFNQLSTGLD | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | L191 | HFFNQLSNGLD | 1 | Drosophila melanogaster | L435 | MCAGYLFQPDK | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | L435 | MSAEYLFMTDK | 1 | Drosophila melanogaster | N189 | HPRFFNQLSTG | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | N189 | HPHFFNQLSNG | 1 | Drosophila melanogaster | N402 | NSVTWNPHKMM | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | N402 | DSVTWNPHKLM | 1 | Drosophila melanogaster | Q190 | PRFFNQLSTGL | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | Q190 | PHFFNQLSNGL | 1 | Drosophila melanogaster | R567 | KANFFRMVISN | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | R567 | RPNFFRSIISS | 1 | Drosophila melanogaster | S192 | FFNQLSTGLDI | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | S192 | FFNQLSNGLDL | 1 | Drosophila melanogaster | T344 | LYVNATAGTTV | 4 | Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | T344 | FYVNATAGTTV | 2 | Homo sapiens, Pan troglodytes | T344 | FFVNATAGTTV | 1 | Drosophila melanogaster | T348 | ATAGTTVYGAF | 6 | Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Canis lupus familiaris, Bos taurus | T348 | ATAGTTVLGAF | 1 | Drosophila melanogaster |
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