Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GABRB1 (gamma-aminobutyric acid type A receptor subunit beta1)

Identity

Alias (NCBI)DEE45
EIEE45
HGNC (Hugo) GABRB1
HGNC Alias nameGABA(A) receptor, beta 1
HGNC Previous namegamma-aminobutyric acid (GABA) A receptor, beta 1
LocusID (NCBI) 2560
Atlas_Id 63651
Location 4p12  [Link to chromosome band 4p12]
Location_base_pair Starts at 47031567 and ends at 47426430 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)
ATP10D (4p12)::GABRB1 (4p12)CCDC149 (4p15.2)::GABRB1 (4p12)LNX1 (4q12)::GABRB1 (4p12)
ZNF430 (19p12)::GABRB1 (4p12)LNX1 GABRB1CCDC149 GABRB1
ATP10D GABRB1

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)GABRB1   4081
Cards
Entrez_Gene (NCBI)GABRB1    gamma-aminobutyric acid type A receptor subunit beta1
AliasesDEE45; EIEE45
GeneCards (Weizmann)GABRB1
Ensembl hg19 (Hinxton)ENSG00000163288 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163288 [Gene_View]  ENSG00000163288 [Sequence]  chr4:47031567-47426430 [Contig_View]  GABRB1 [Vega]
ICGC DataPortalENSG00000163288
TCGA cBioPortalGABRB1
AceView (NCBI)GABRB1
Genatlas (Paris)GABRB1
SOURCE (Princeton)GABRB1
Genetics Home Reference (NIH)GABRB1
Genomic and cartography
GoldenPath hg38 (UCSC)GABRB1  -     chr4:47031567-47426430 +  4p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRB1  -     4p12   [Description]    (hg19-Feb_2009)
GoldenPathGABRB1 - 4p12 [CytoView hg19]  GABRB1 - 4p12 [CytoView hg38]
ImmunoBaseENSG00000163288
Genome Data Viewer NCBIGABRB1 [Mapview hg19]  
OMIM137190   617153   
Gene and transcription
Genbank (Entrez)AK094991 AK124778 AK225167 AK225686 AK293691
RefSeq transcript (Entrez)NM_000812
Consensus coding sequences : CCDS (NCBI)GABRB1
Gene ExpressionGABRB1 [ NCBI-GEO ]   GABRB1 [ EBI - ARRAY_EXPRESS ]   GABRB1 [ SEEK ]   GABRB1 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRB1 [ Firebrowse - Broad ]
GenevisibleExpression of GABRB1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2560
GTEX Portal (Tissue expression)GABRB1
Human Protein AtlasENSG00000163288-GABRB1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18505   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18505  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18505
PhosPhoSitePlusP18505
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAb_rcpt    Neur_chan_lig-bd    Neur_chan_lig-bd_sf    Neur_channel    Neuro-gated_channel_TM_sf    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)GABRB1
SuperfamilyP18505
AlphaFold pdb e-kbP18505   
Human Protein Atlas [tissue]ENSG00000163288-GABRB1 [tissue]
HPRD15924
Protein Interaction databases
DIP (DOE-UCLA)P18505
IntAct (EBI)P18505
BioGRIDGABRB1
STRING (EMBL)GABRB1
ZODIACGABRB1
Ontologies - Pathways
QuickGOP18505
Ontology : AmiGOGABA-A receptor activity  GABA-A receptor activity  chloride channel activity  nuclear envelope  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  ion transport  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  response to toxic substance  ligand-gated ion channel activity  central nervous system neuron development  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  dendrite  neurotransmitter receptor activity  response to progesterone  ion transmembrane transport  chloride channel complex  regulation of membrane potential  ovulation cycle  neuron projection  synapse  postsynaptic membrane  GABA receptor binding  nervous system process  regulation of postsynaptic membrane potential  cellular response to histamine  GABA-ergic synapse  chloride transmembrane transport  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Ontology : EGO-EBIGABA-A receptor activity  GABA-A receptor activity  chloride channel activity  nuclear envelope  cytoplasm  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  ion transport  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  response to toxic substance  ligand-gated ion channel activity  central nervous system neuron development  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  dendrite  neurotransmitter receptor activity  response to progesterone  ion transmembrane transport  chloride channel complex  regulation of membrane potential  ovulation cycle  neuron projection  synapse  postsynaptic membrane  GABA receptor binding  nervous system process  regulation of postsynaptic membrane potential  cellular response to histamine  GABA-ergic synapse  chloride transmembrane transport  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGABRB1
Atlas of Cancer Signalling NetworkGABRB1
Wikipedia pathwaysGABRB1
Orthology - Evolution
OrthoDB2560
GeneTree (enSembl)ENSG00000163288
Phylogenetic Trees/Animal Genes : TreeFamGABRB1
Homologs : HomoloGeneGABRB1
Homology/Alignments : Family Browser (UCSC)GABRB1
Gene fusions - Rearrangements
Fusion : QuiverGABRB1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRB1
dbVarGABRB1
ClinVarGABRB1
MonarchGABRB1
1000_GenomesGABRB1 
Exome Variant ServerGABRB1
GNOMAD BrowserENSG00000163288
Varsome BrowserGABRB1
ACMGGABRB1 variants
VarityP18505
Genomic Variants (DGV)GABRB1 [DGVbeta]
DECIPHERGABRB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRB1 
Mutations
ICGC Data PortalGABRB1 
TCGA Data PortalGABRB1 
Broad Tumor PortalGABRB1
OASIS PortalGABRB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRB1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGABRB1
Mutations and Diseases : HGMDGABRB1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGABRB1
DgiDB (Drug Gene Interaction Database)GABRB1
DoCM (Curated mutations)GABRB1
CIViC (Clinical Interpretations of Variants in Cancer)GABRB1
Cancer3DGABRB1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137190    617153   
Orphanet
DisGeNETGABRB1
MedgenGABRB1
Genetic Testing Registry GABRB1
NextProtP18505 [Medical]
GENETestsGABRB1
Target ValidationGABRB1
Huge Navigator GABRB1 [HugePedia]
ClinGenGABRB1
Clinical trials, drugs, therapy
MyCancerGenomeGABRB1
Protein Interactions : CTDGABRB1
Pharm GKB GenePA28495
PharosP18505
Clinical trialGABRB1
Miscellaneous
canSAR (ICR)GABRB1
HarmonizomeGABRB1
ARCHS4GABRB1
DataMed IndexGABRB1
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGABRB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Sun Jan 16 18:53:52 CET 2022

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