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GABRR1 (gamma-aminobutyric acid type A receptor subunit rho1)

Identity

Alias (NCBI)-
HGNC (Hugo) GABRR1
HGNC Alias nameGABA(A) receptor, rho 1
HGNC Previous namegamma-aminobutyric acid (GABA) receptor, rho 1
 gamma-aminobutyric acid (GABA) A receptor, rho 1
LocusID (NCBI) 2569
Atlas_Id 63657
Location 6q15  [Link to chromosome band 6q15]
Location_base_pair Starts at 89177504 and ends at 89217358 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)

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)GABRR1   4090
Cards
Entrez_Gene (NCBI)GABRR1    gamma-aminobutyric acid type A receptor subunit rho1
Aliases
GeneCards (Weizmann)GABRR1
Ensembl hg19 (Hinxton)ENSG00000146276 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146276 [Gene_View]  ENSG00000146276 [Sequence]  chr6:89177504-89217358 [Contig_View]  GABRR1 [Vega]
ICGC DataPortalENSG00000146276
TCGA cBioPortalGABRR1
AceView (NCBI)GABRR1
Genatlas (Paris)GABRR1
SOURCE (Princeton)GABRR1
Genetics Home Reference (NIH)GABRR1
Genomic and cartography
GoldenPath hg38 (UCSC)GABRR1  -     chr6:89177504-89217358 -  6q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRR1  -     6q15   [Description]    (hg19-Feb_2009)
GoldenPathGABRR1 - 6q15 [CytoView hg19]  GABRR1 - 6q15 [CytoView hg38]
ImmunoBaseENSG00000146276
Genome Data Viewer NCBIGABRR1 [Mapview hg19]  
OMIM137161   
Gene and transcription
Genbank (Entrez)AK296124 AK298948 AK313609 AW135923 BC130344
RefSeq transcript (Entrez)NM_001256703 NM_001256704 NM_001267582 NM_002042
Consensus coding sequences : CCDS (NCBI)GABRR1
Gene ExpressionGABRR1 [ NCBI-GEO ]   GABRR1 [ EBI - ARRAY_EXPRESS ]   GABRR1 [ SEEK ]   GABRR1 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRR1 [ Firebrowse - Broad ]
GenevisibleExpression of GABRR1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2569
GTEX Portal (Tissue expression)GABRR1
Human Protein AtlasENSG00000146276-GABRR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP24046   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP24046  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP24046
PhosPhoSitePlusP24046
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rho1_rcpt    GABAAa_rho_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)GABRR1
SuperfamilyP24046
AlphaFold pdb e-kbP24046   
Human Protein Atlas [tissue]ENSG00000146276-GABRR1 [tissue]
HPRD15921
Protein Interaction databases
DIP (DOE-UCLA)P24046
IntAct (EBI)P24046
BioGRIDGABRR1
STRING (EMBL)GABRR1
ZODIACGABRR1
Ontologies - Pathways
QuickGOP24046
Ontology : AmiGOGABA-A receptor activity  chloride channel activity  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  neurotransmitter receptor activity  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  regulation of postsynaptic membrane potential  glutamatergic synapse  GABA-ergic synapse  regulation of presynaptic membrane potential  ligand-gated ion channel activity involved in regulation of presynaptic membrane potential  chloride transmembrane transport  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Ontology : EGO-EBIGABA-A receptor activity  chloride channel activity  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  neurotransmitter receptor activity  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  regulation of postsynaptic membrane potential  glutamatergic synapse  GABA-ergic synapse  regulation of presynaptic membrane potential  ligand-gated ion channel activity involved in regulation of presynaptic membrane potential  chloride transmembrane transport  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGABRR1
Atlas of Cancer Signalling NetworkGABRR1
Wikipedia pathwaysGABRR1
Orthology - Evolution
OrthoDB2569
GeneTree (enSembl)ENSG00000146276
Phylogenetic Trees/Animal Genes : TreeFamGABRR1
Homologs : HomoloGeneGABRR1
Homology/Alignments : Family Browser (UCSC)GABRR1
Gene fusions - Rearrangements
Fusion : QuiverGABRR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRR1
dbVarGABRR1
ClinVarGABRR1
MonarchGABRR1
1000_GenomesGABRR1 
Exome Variant ServerGABRR1
GNOMAD BrowserENSG00000146276
Varsome BrowserGABRR1
ACMGGABRR1 variants
VarityP24046
Genomic Variants (DGV)GABRR1 [DGVbeta]
DECIPHERGABRR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRR1 
Mutations
ICGC Data PortalGABRR1 
TCGA Data PortalGABRR1 
Broad Tumor PortalGABRR1
OASIS PortalGABRR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRR1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGABRR1
Mutations and Diseases : HGMDGABRR1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGABRR1
DgiDB (Drug Gene Interaction Database)GABRR1
DoCM (Curated mutations)GABRR1
CIViC (Clinical Interpretations of Variants in Cancer)GABRR1
Cancer3DGABRR1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137161   
Orphanet
DisGeNETGABRR1
MedgenGABRR1
Genetic Testing Registry GABRR1
NextProtP24046 [Medical]
GENETestsGABRR1
Target ValidationGABRR1
Huge Navigator GABRR1 [HugePedia]
ClinGenGABRR1
Clinical trials, drugs, therapy
MyCancerGenomeGABRR1
Protein Interactions : CTDGABRR1
Pharm GKB GenePA28505
PharosP24046
Clinical trialGABRR1
Miscellaneous
canSAR (ICR)GABRR1
HarmonizomeGABRR1
DataMed IndexGABRR1
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGABRR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:51:04 CEST 2021

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