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mutLBSgeneDB |
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| Gene summary for GABBR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GABBR1 |
| Gene name | gamma-aminobutyric acid (GABA) B receptor, 1 | |
| Synonyms | GABABR1|GABBR1-3|GB1|GPRC3A|dJ271M21.1.1|dJ271M21.1.2 | |
| Cytomap | UCSC genome browser: 6p21.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001470.2, NM_021903.2,NM_021904.2,NM_021905.2, | |
| Description | GABA-BR1GABAB, subunit 1cgamma-aminobutyric acid type B receptor subunit 1seven transmembrane helix receptor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603540 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000204681 | ||
| HPRD : 04644 | ||
| Vega : OTTHUMG00000031095 | ||
| Protein | UniProt: Q9UBS5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GABBR1 | |
| BioGPS: 2550 | ||
| Pathway | NCI Pathway Interaction Database: GABBR1 | |
| KEGG: GABBR1 | ||
| REACTOME: GABBR1 | ||
| Pathway Commons: GABBR1 | ||
| Context | iHOP: GABBR1 | |
| ligand binding site mutation search in PubMed: GABBR1 | ||
| UCL Cancer Institute: GABBR1 | ||
| 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 | GO:0007193 | adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway | 10328880 | GO:0007214 | gamma-aminobutyric acid signaling pathway | 9872316 |
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| Ligand binding site mutations for GABBR1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Y367 | T369A | COAD | 2 | F366 | G364R | BLCA | 1 | F366 | G364E | BRCA | 1 | F366 | G364E | COAD | 1 | M429 | N431S | OV | 1 | G268 | S266F | SKCM | 1 | V318 | V318A | STAD | 1 | H287 | R285Q | 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 GABBR1 |
| 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 | V318 | V318A | -1.7327029 | Y367 | T369A | -1.09817 | M429 | N431S | -1.0837108 | H287 | R285Q | -1.0623042 | G268 | S266F | -0.88677956 | F366 | G364R | -0.38938387 | F366 | G364E | -0.34461882 |
| (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 GABBR1 from PDB |
| PDB ID | PDB title | PDB structure | 4MQF | Crystal structure of the extracellular domain of human GABA(B) receptor bound to the antagonist 2-hydroxysaclofen |  |
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| Differential gene expression and gene-gene network for GABBR1 |
| 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 GABBR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0001973 | Alcoholism | 3 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 2 | Biomarker |
| umls:C0236736 | Cocaine-Related Disorders | 1 | Biomarker |
| umls:C0424295 | Hyperkinesis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for GABBR1 |
| 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 | DB00181 | Baclofen | Small molecule |  |
| Approved|investigational | DB00837 | Progabide | Small molecule |  |
| Approved | DB01080 | Vigabatrin | Small molecule |  |
| Investigational | DB05010 | SGS742 | Small molecule |  |
| Investigational | DB08891 | Arbaclofen | Small molecule |  |
| Investigational | DB08892 | Arbaclofen Placarbil | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GABBR1 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 GABBR1 |
| Multiple alignments for Q9UBS5 in multiple species |
| LBS | AA sequence | # species | Species | C246 | ILMPGCSSVST | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E445 | NMTSQEFVEKL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E466 | TGGFQEAPLAY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F366 | IIVGLFYETEA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G181 | FPMSGGWPGGQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G268 | IVLSYGSSSPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H287 | TFFRTHPSATL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I393 | YVWFLIGWYAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K449 | QEFVEKLTKRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M429 | TTEIVMLNPAN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S247 | LMPGCSSVSTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S270 | LSYGSSSPALS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V318 | QQTTEVFTSTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W182 | PMSGGWPGGQA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W395 | WFLIGWYADNW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y367 | IVGLFYETEAR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y396 | FLIGWYADNWF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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