GABRA1 [The Human Chemical-Genetic Interaction Map Project]

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======= GABRA1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: GABRA1
  * **<color #00a2e8>Official Name</color>**: gamma-aminobutyric acid type A receptor subunit alpha1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2554|2554]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P14867|P14867]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=GABRA1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GABRA1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/137160|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the vertebrate brain. Functions also as histamine receptor and mediates cellular responses to histamine. Functions as receptor for diazepines and various anesthetics, such as pentobarbital; these are bound at a separate allosteric effector binding site. Functions as ligand- gated chloride channel (By similarity). {ECO:0000250}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Neur chan memb|
|Neur chan LBD|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|GABA receptor complex|
|GABA receptor activity|
|cellular response to histamine|
|inhibitory synapse assembly|
|inhibitory extracellular ligand-gated ion channel activity|
|response to histamine|
|benzodiazepine receptor activity|
|GABA-gated chloride ion channel activity|
|synaptic transmission, GABAergic|
|GABA-A receptor complex|
|GABA-A receptor activity|
|gamma-aminobutyric acid signaling pathway|
|integral component of postsynaptic specialization membrane|
|dendrite membrane|
|transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential|
|extracellular ligand-gated ion channel activity|
|chloride channel complex|
|chloride channel activity|
|drug binding|
|GABA-ergic synapse|
|postsynapse|
|chloride transmembrane transport|
|synapse assembly|
|regulation of postsynaptic membrane potential|
|chloride transport|
|inorganic anion transmembrane transport|
|cellular response to ammonium ion|
|cytoplasmic vesicle membrane|
|inorganic anion transport|
|response to ammonium ion|
|synapse|
|synapse organization|
|anion transmembrane transport|
|neuron projection|
|chemical synaptic transmission|
|anterograde trans-synaptic signaling|
|regulation of membrane potential|
|trans-synaptic signaling|
|synaptic signaling|
|cellular response to organic cyclic compound|
|cell junction|
|anion transport|
|cellular response to organonitrogen compound|
|inorganic ion transmembrane transport|
|cellular response to nitrogen compound|
|response to organic cyclic compound|
|ion transmembrane transport|
|response to organonitrogen compound|
|response to nitrogen compound|
|cell-cell signaling|
|cellular response to endogenous stimulus|
|transmembrane transport|
|G protein-coupled receptor signaling pathway|
|ion transport|
|nervous system process|
|integral component of plasma membrane|
|response to endogenous stimulus|
|system process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|1.79|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 17469
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -1.65 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='GABRA1 Expression in NALM6 Cells: -1.65'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>