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GABRA1 (gamma-aminobutyric acid (GABA) A receptor, alpha 1)

Identity

Other namesECA4
EIEE19
EJM
EJM5
HGNC (Hugo) GABRA1
LocusID (NCBI) 2554
Location 5q34
Location_base_pair Starts at 161274197 and ends at 161326965 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)GABRA1   4075
Cards
Entrez_Gene (NCBI)GABRA1  2554  gamma-aminobutyric acid (GABA) A receptor, alpha 1
GeneCards (Weizmann)GABRA1
Ensembl (Hinxton)ENSG00000022355 [Gene_View]  chr5:161274197-161326965 [Contig_View]  GABRA1 [Vega]
ICGC DataPortalENSG00000022355
cBioPortalGABRA1
AceView (NCBI)GABRA1
Genatlas (Paris)GABRA1
WikiGenes2554
SOURCE (Princeton)NM_000806 NM_001127643 NM_001127644 NM_001127645 NM_001127646 NM_001127647 NM_001127648
Genomic and cartography
GoldenPath (UCSC)GABRA1  -  5q34   chr5:161274197-161326965 +  5q34   [Description]    (hg19-Feb_2009)
EnsemblGABRA1 - 5q34 [CytoView]
Mapping of homologs : NCBIGABRA1 [Mapview]
OMIM137160   611136   615744   
Gene and transcription
Genbank (Entrez)AK223447 AK289792 AK295160 AV720972 AW148652
RefSeq transcript (Entrez)NM_000806 NM_001127643 NM_001127644 NM_001127645 NM_001127646 NM_001127647 NM_001127648
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_011548 NT_023133 NW_001838954 NW_004929325
Consensus coding sequences : CCDS (NCBI)GABRA1
Cluster EST : UnigeneHs.175934 [ NCBI ]
CGAP (NCI)Hs.175934
Alternative Splicing : Fast-db (Paris)GSHG0024429
Alternative Splicing GalleryENSG00000022355
Gene ExpressionGABRA1 [ NCBI-GEO ]     GABRA1 [ SEEK ]   GABRA1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP14867 (Uniprot)
NextProtP14867  [Medical]
With graphics : InterProP14867
Splice isoforms : SwissVarP14867 (Swissvar)
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt [organisation]   GABAAa_rcpt [organisation]   GABBAa1_rcpt [organisation]   Neur_chan_lig-bd [organisation]   Neur_channel [organisation]   Neurotrans-gated_channel_TM [organisation]   Neurotransmitter_ion_chnl_CS [organisation]  
Related proteins : CluSTrP14867
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
DMDM Disease mutations2554
Blocks (Seattle)P14867
Human Protein AtlasENSG00000022355 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP14867
HPRD00662
IPIIPI00295235   IPI00974060   IPI00979874   IPI00976406   
Protein Interaction databases
DIP (DOE-UCLA)P14867
IntAct (EBI)P14867
FunCoupENSG00000022355
BioGRIDGABRA1
InParanoidP14867
Interologous Interaction database P14867
IntegromeDBGABRA1
STRING (EMBL)GABRA1
Ontologies - Pathways
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  synaptic transmission  drug binding  GABA receptor activity  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  synaptic transmission, GABAergic  transmembrane transport  chloride transmembrane transport  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  synaptic transmission  drug binding  GABA receptor activity  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  synaptic transmission, GABAergic  transmembrane transport  chloride transmembrane transport  
Pathways : BIOCARTACardiac Protection Against ROS [Genes]    Gamma-aminobutyric Acid Receptor Life Cycle [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
Protein Interaction DatabaseGABRA1
Wikipedia pathwaysGABRA1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GABRA1
snp3D : Map Gene to Disease2554
SNP (GeneSNP Utah)GABRA1
SNP : HGBaseGABRA1
Genetic variants : HAPMAPGABRA1
Exome VariantGABRA1
1000_GenomesGABRA1 
ICGC programENSG00000022355 
Somatic Mutations in Cancer : COSMICGABRA1 
CONAN: Copy Number AnalysisGABRA1 
Mutations and Diseases : HGMDGABRA1
Genomic VariantsGABRA1  GABRA1 [DGVbeta]
dbVarGABRA1
ClinVarGABRA1
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM137160    611136    615744   
MedgenGABRA1
GENETestsGABRA1
Disease Genetic AssociationGABRA1
Huge Navigator GABRA1 [HugePedia]  GABRA1 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneGABRA1
Homology/Alignments : Family Browser (UCSC)GABRA1
Phylogenetic Trees/Animal Genes : TreeFamGABRA1
Chemical/Protein Interactions : CTD2554
Chemical/Pharm GKB GenePA28489
Clinical trialGABRA1
Cancer Resource (Charite)ENSG00000022355
Other databases
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
CoreMineGABRA1
iHOPGABRA1
OncoSearchGABRA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:55:40 CEST 2014

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