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GABBR1 (gamma-aminobutyric acid type B receptor subunit 1)

Identity

Alias_namesgamma-aminobutyric acid (GABA) B receptor
Alias_symbol (synonym)hGB1a
GPRC3A
Other aliasGABABR1
GABBR1-3
GB1
HGNC (Hugo) GABBR1
LocusID (NCBI) 2550
Atlas_Id 50108
Location 6p22.1  [Link to chromosome band 6p22]
Location_base_pair Starts at 29602228 and ends at 29633135 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CTRC (1p36.21) / GABBR1 (6p22.1)GABBR1 (6p22.1) / SV2B (15q26.1)GABBR1 (6p22.1) / UCP2 (11q13.4)
RAP2B (3q25.2) / GABBR1 (6p22.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GABBR1   4070
Cards
Entrez_Gene (NCBI)GABBR1  2550  gamma-aminobutyric acid type B receptor subunit 1
AliasesGABABR1; GABBR1-3; GB1; GPRC3A
GeneCards (Weizmann)GABBR1
Ensembl hg19 (Hinxton)ENSG00000204681 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204681 [Gene_View]  ENSG00000204681 [Sequence]  chr6:29602228-29633135 [Contig_View]  GABBR1 [Vega]
ICGC DataPortalENSG00000204681
TCGA cBioPortalGABBR1
AceView (NCBI)GABBR1
Genatlas (Paris)GABBR1
WikiGenes2550
SOURCE (Princeton)GABBR1
Genetics Home Reference (NIH)GABBR1
Genomic and cartography
GoldenPath hg38 (UCSC)GABBR1  -     chr6:29602228-29633135 -  6p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABBR1  -     6p22.1   [Description]    (hg19-Feb_2009)
EnsemblGABBR1 - 6p22.1 [CytoView hg19]  GABBR1 - 6p22.1 [CytoView hg38]
Mapping of homologs : NCBIGABBR1 [Mapview hg19]  GABBR1 [Mapview hg38]
OMIM603540   
Gene and transcription
Genbank (Entrez)AB208790 AF099148 AF301005 AJ012185 AJ012186
RefSeq transcript (Entrez)NM_001319053 NM_001470 NM_021903 NM_021904 NM_021905
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_029101 NT_113891 NT_167244 NT_167245 NT_167246 NT_167247 NT_167248
Consensus coding sequences : CCDS (NCBI)GABBR1
Cluster EST : UnigeneHs.167017 [ NCBI ]
CGAP (NCI)Hs.167017
Alternative Splicing GalleryENSG00000204681
Gene ExpressionGABBR1 [ NCBI-GEO ]   GABBR1 [ EBI - ARRAY_EXPRESS ]   GABBR1 [ SEEK ]   GABBR1 [ MEM ]
Gene Expression Viewer (FireBrowse)GABBR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2550
GTEX Portal (Tissue expression)GABBR1
Human Protein AtlasENSG00000204681-GABBR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBS5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBS5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBS5
Splice isoforms : SwissVarQ9UBS5
PhosPhoSitePlusQ9UBS5
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F3_4 (PS50259)    SUSHI (PS50923)   
Domains : Interpro (EBI)ANF_lig-bd_rcpt    GPCR3_GABA-B    GPCR_3_C    GPCR_3_GABA_rcpt_B1    Peripla_BP_I    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)7tm_3 (PF00003)    ANF_receptor (PF01094)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00003    pfam01094    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  
Conserved Domain (NCBI)GABBR1
DMDM Disease mutations2550
Blocks (Seattle)GABBR1
PDB (SRS)4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
PDB (PDBSum)4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
PDB (IMB)4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
PDB (RSDB)4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
Structural Biology KnowledgeBase4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
SCOP (Structural Classification of Proteins)4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
CATH (Classification of proteins structures)4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
SuperfamilyQ9UBS5
Human Protein Atlas [tissue]ENSG00000204681-GABBR1 [tissue]
Peptide AtlasQ9UBS5
HPRD04644
IPIIPI00002756   IPI00218738   IPI00296373   IPI00218740   IPI00218741   IPI01022568   IPI00943070   IPI00893825   IPI00893592   IPI00946149   IPI00946517   IPI00945997   IPI00945099   IPI00945431   IPI00944956   IPI00945798   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBS5
IntAct (EBI)Q9UBS5
FunCoupENSG00000204681
BioGRIDGABBR1
STRING (EMBL)GABBR1
ZODIACGABBR1
Ontologies - Pathways
QuickGOQ9UBS5
Ontology : AmiGOG-protein coupled GABA receptor activity  G-protein coupled GABA receptor activity  protein binding  extracellular region  cytoplasm  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  gamma-aminobutyric acid signaling pathway  cell junction  dendrite  G-protein coupled receptor heterodimeric complex  presynaptic membrane  postsynaptic membrane  
Ontology : EGO-EBIG-protein coupled GABA receptor activity  G-protein coupled GABA receptor activity  protein binding  extracellular region  cytoplasm  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  gamma-aminobutyric acid signaling pathway  cell junction  dendrite  G-protein coupled receptor heterodimeric complex  presynaptic membrane  postsynaptic membrane  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGABBR1
Atlas of Cancer Signalling NetworkGABBR1
Wikipedia pathwaysGABBR1
Orthology - Evolution
OrthoDB2550
GeneTree (enSembl)ENSG00000204681
Phylogenetic Trees/Animal Genes : TreeFamGABBR1
HOVERGENQ9UBS5
HOGENOMQ9UBS5
Homologs : HomoloGeneGABBR1
Homology/Alignments : Family Browser (UCSC)GABBR1
Gene fusions - Rearrangements
Fusion : QuiverGABBR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABBR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABBR1
dbVarGABBR1
ClinVarGABBR1
1000_GenomesGABBR1 
Exome Variant ServerGABBR1
ExAC (Exome Aggregation Consortium)ENSG00000204681
GNOMAD BrowserENSG00000204681
Genetic variants : HAPMAP2550
Genomic Variants (DGV)GABBR1 [DGVbeta]
DECIPHERGABBR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABBR1 
Mutations
ICGC Data PortalGABBR1 
TCGA Data PortalGABBR1 
Broad Tumor PortalGABBR1
OASIS PortalGABBR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABBR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABBR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GABBR1
DgiDB (Drug Gene Interaction Database)GABBR1
DoCM (Curated mutations)GABBR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABBR1 (select a term)
intoGenGABBR1
Cancer3DGABBR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603540   
Orphanet
DisGeNETGABBR1
MedgenGABBR1
Genetic Testing Registry GABBR1
NextProtQ9UBS5 [Medical]
TSGene2550
GENETestsGABBR1
Target ValidationGABBR1
Huge Navigator GABBR1 [HugePedia]
snp3D : Map Gene to Disease2550
BioCentury BCIQGABBR1
ClinGenGABBR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2550
Chemical/Pharm GKB GenePA28484
Clinical trialGABBR1
Miscellaneous
canSAR (ICR)GABBR1 (select the gene name)
Probes
Litterature
PubMed125 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABBR1
EVEXGABBR1
GoPubMedGABBR1
iHOPGABBR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:26:36 CEST 2018

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