Entity Details

Primary name GABRB1
Entity type gene
Source Source Link

Details

PrimaryID2560
RefseqGeneNG_051831
SymbolGABRB1
Namegamma-aminobutyric acid type A receptor subunit beta1
Chromosome4
Location4p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-06-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGBRB1_HUMAN

GO terms

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GOName
GO:0004890 GABA-A receptor activity
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006811 ion transport
GO:0007165 signal transduction
GO:0007214 gamma-aminobutyric acid signaling pathway
GO:0007268 chemical synaptic transmission
GO:0009636 response to toxic substance
GO:0015276 ligand-gated ion channel activity
GO:0021954 central nervous system neuron development
GO:0022851 GABA-gated chloride ion channel activity
GO:0030425 dendrite
GO:0030594 neurotransmitter receptor activity
GO:0032570 response to progesterone
GO:0034220 ion transmembrane transport
GO:0034707 chloride channel complex
GO:0042391 regulation of membrane potential
GO:0042698 ovulation cycle
GO:0043005 neuron projection
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:0050811 GABA receptor binding
GO:0050877 nervous system process
GO:0071420 cellular response to histamine
GO:0098982 GABA-ergic synapse
GO:1902476 chloride transmembrane transport
GO:1902711 GABA-A receptor complex
GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential

Diseases

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Disease IDSourceNameDescription
617153 OMIMDevelopmental and epileptic encephalopathy 45 (DEE45)A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. The disease is caused by variants affecting the gene represented in this entry.