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GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1 [ Homo sapiens (human) ]

Gene ID: 2554, updated on 7-Dec-2014
Official Symbol
GABRA1provided by HGNC
Official Full Name
gamma-aminobutyric acid (GABA) A receptor, alpha 1provided by HGNC
Primary source
HGNC:HGNC:4075
See related
Ensembl:ENSG00000022355; HPRD:00662; MIM:137160; Vega:OTTHUMG00000163586
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EJM; ECA4; EJM5; EIEE19
Summary
This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
See GABRA1 in Epigenomics, MapViewer
Location:
5q34
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (161847191..161899959)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (161274197..161326965)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid (GABA) A receptor, alpha 6 Neighboring gene glutaredoxin (thioltransferase) pseudogene 3 Neighboring gene gamma-aminobutyric acid (GABA) A receptor, gamma 2 Neighboring gene ADP-ribosylation factor-like 2 binding protein pseudogene 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • GABA A receptor activation, organism-specific biosystem (from REACTOME)
    GABA A receptor activation, organism-specific biosystemGABA B receptors are G protein coupled receptors that are activated by GABA binding to the B1 subunit and B2 subunit alters the activity of adenylate cyclase by interacting with the G alpha i/alpha 0...
  • GABA receptor activation, organism-specific biosystem (from REACTOME)
    GABA receptor activation, organism-specific biosystemGamma aminobutyric acid (GABA) receptors are the major inhibitory receptors in human synapses. They are of two types. GABA A receptors are fast-acting ligand gated chloride ion channels that mediate ...
  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Ligand-gated ion channel transport, organism-specific biosystem (from REACTOME)
    Ligand-gated ion channel transport, organism-specific biosystemLigand-gated ion channels (LGICs) are a group of transmembrane ion channels that are opened or closed in response to the binding of a chemical messenger (Purves, 2001).
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Neuroactive ligand-receptor interaction, organism-specific biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, organism-specific biosystem
    Neuroactive ligand-receptor interaction
  • Neuroactive ligand-receptor interaction, conserved biosystem (from KEGG)
    Neuroactive ligand-receptor interaction, conserved biosystem
    Neuroactive ligand-receptor interaction
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystem (from REACTOME)
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell, organism-specific biosystemThe neurotransmitter in the synaptic cleft released by the pre-synaptic neuron binds specific receptors located on the post-synaptic terminal. These receptors are either ion channels or G protein cou...
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to GABA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
GABA-A receptor activity IEA
Inferred from Electronic Annotation
more info
 
chloride channel activity IEA
Inferred from Electronic Annotation
more info
 
drug binding ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular ligand-gated ion channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to histamine IEA
Inferred from Electronic Annotation
more info
 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid signaling pathway IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
synaptic transmission TAS
Traceable Author Statement
more info
 
synaptic transmission, GABAergic ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport TAS
Traceable Author Statement
more info
 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gamma-aminobutyric acid receptor subunit alpha-1
Names
gamma-aminobutyric acid receptor subunit alpha-1
GABA(A) receptor, alpha 1
GABA(A) receptor subunit alpha-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011548.1 

    Range
    5001..57769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000806.5NP_000797.2  gamma-aminobutyric acid receptor subunit alpha-1 precursor

    See proteins identical to NP_000797.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses the 5'-most alternate exon in the 5' UTR. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC021079, AK289792, X14766
    Consensus CDS
    CCDS4357.1
    UniProtKB/TrEMBL
    A8K177
    UniProtKB/Swiss-Prot
    P14867
    Conserved Domains (3) summary
    TIGR00860
    Location:14442
    LIC; Cation transporter family protein
    pfam02931
    Location:43250
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:257439
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  2. NM_001127643.1NP_001121115.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

    See proteins identical to NP_001121115.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC021079, DA228536, DB485936, DB487114, R60404, X13584, X14766
    Consensus CDS
    CCDS4357.1
    UniProtKB/Swiss-Prot
    P14867
    Related
    ENSP00000393097, OTTHUMP00000160870, ENST00000428797, OTTHUMT00000252702
    Conserved Domains (3) summary
    TIGR00860
    Location:14442
    LIC; Cation transporter family protein
    pfam02931
    Location:43250
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:257439
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  3. NM_001127644.1NP_001121116.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

    See proteins identical to NP_001121116.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC021079, DA075784, DA228536, R60404, X14766
    Consensus CDS
    CCDS4357.1
    UniProtKB/Swiss-Prot
    P14867
    Conserved Domains (3) summary
    TIGR00860
    Location:14442
    LIC; Cation transporter family protein
    pfam02931
    Location:43250
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:257439
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  4. NM_001127645.1NP_001121117.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

    See proteins identical to NP_001121117.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC021079, BC030696, DC307259
    Consensus CDS
    CCDS4357.1
    UniProtKB/Swiss-Prot
    P14867
    Related
    ENSP00000415441, OTTHUMP00000224393, ENST00000437025, OTTHUMT00000374401
    Conserved Domains (3) summary
    TIGR00860
    Location:14442
    LIC; Cation transporter family protein
    pfam02931
    Location:43250
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:257439
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
  5. NM_001127648.1NP_001121120.1  gamma-aminobutyric acid receptor subunit alpha-1 precursor

    See proteins identical to NP_001121120.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1-7 encode the same protein.
    Source sequence(s)
    AC021079, DA232066, DC334834, X14766
    Consensus CDS
    CCDS4357.1
    UniProtKB/Swiss-Prot
    P14867
    Conserved Domains (3) summary
    TIGR00860
    Location:14442
    LIC; Cation transporter family protein
    pfam02931
    Location:43250
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:257439
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    161847191..161899959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    160706630..160759375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    156366532..156419379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001127646.1: Suppressed sequence

    Description
    NM_001127646.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript
  2. NM_001127647.1: Suppressed sequence

    Description
    NM_001127647.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.