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gamma-aminobutyric acid type A receptor subunit beta1

Summary

Gene Symbol

GABRB1

Organism

Homo sapiens (human)

External Links

NCBI Gene

2560

PubChem

2560

Alliance of Genome Resources

HGNC:4081

Annotation

Keyword

Alternative splicing
Cell membrane
Chloride channel
Disease variant
Disulfide bond
Epilepsy
Glycoprotein
Ligand-gated ion channel
Postsynaptic cell membrane
Receptor
Reference proteome
Signal
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
X5DNL6
P18505	GABA(A) receptor subunit beta-1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
monoatomic ion transport	ISS
ion transport	ISS
signal transduction	TAS	2465923
gamma-aminobutyric acid signaling pathway	IMP	26950270
response to toxic substance	IEA

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

gamma-aminobutyric acid signaling pathway

signal transduction

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

central nervous system neuron development

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to organic cyclic compound [inference]

cellular response to histamine

cellular response to organonitrogen compound [inference]

cellular response to histamine

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to histamine

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

reproductive process [inference]

multicellular organismal reproductive process [inference]

ovulation cycle

developmental process [inference]

anatomical structure development [inference]

cell development [inference]

neuron development [inference]

central nervous system neuron development

cellular developmental process [inference]

cell development [inference]

neuron development [inference]

central nervous system neuron development

rhythmic process [inference]

ovulation cycle

response to stimulus [inference]

response to endogenous stimulus [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to progesterone

cellular response to endogenous stimulus [inference]

cellular response to organonitrogen compound [inference]

cellular response to histamine

response to chemical [inference]

response to toxic substance

response to organic substance [inference]

response to hormone [inference]

response to steroid hormone [inference]

response to progesterone

response to organonitrogen compound [inference]

response to histamine [inference]

cellular response to histamine

cellular response to organonitrogen compound [inference]

cellular response to histamine

response to organic cyclic compound [inference]

response to histamine [inference]

cellular response to histamine

response to steroid hormone [inference]

response to progesterone

cellular response to organic cyclic compound [inference]

cellular response to histamine

response to lipid [inference]

response to steroid hormone [inference]

response to progesterone

cellular response to organic substance [inference]

cellular response to organic cyclic compound [inference]

cellular response to histamine

cellular response to organonitrogen compound [inference]

cellular response to histamine

response to ketone [inference]

response to progesterone

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to organic cyclic compound [inference]

cellular response to histamine

cellular response to organonitrogen compound [inference]

cellular response to histamine

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to histamine

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

response to histamine [inference]

cellular response to histamine

cellular response to organonitrogen compound [inference]

cellular response to histamine

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to histamine

response to oxygen-containing compound [inference]

response to ketone [inference]

response to progesterone

cellular response to stimulus [inference]

cellular response to chemical stimulus [inference]

cellular response to organic substance [inference]

cellular response to organic cyclic compound [inference]

cellular response to histamine

cellular response to organonitrogen compound [inference]

cellular response to histamine

cellular response to nitrogen compound [inference]

cellular response to organonitrogen compound [inference]

cellular response to histamine

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport

monoatomic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic anion transport [inference]

chloride transport [inference]

chloride transmembrane transport

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic anion transmembrane transport [inference]

chloride transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic anion transmembrane transport [inference]

chloride transmembrane transport

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling [inference]

gamma-aminobutyric acid signaling pathway

regulation of cellular process [inference]

signal transduction

regulation of biological quality [inference]

regulation of membrane potential [inference]

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
nuclear envelope	IEA
plasma membrane	ISS
plasma membrane	TAS
plasma membrane	IDA	26950270
dendrite	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

receptor complex [inference]

GABA receptor complex [inference]

GABA-A receptor complex

membrane protein complex [inference]

transmembrane transporter complex

monoatomic ion channel complex [inference]

chloride channel complex

transporter complex [inference]

transmembrane transporter complex

monoatomic ion channel complex [inference]

chloride channel complex

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

plasma membrane region [inference]

synaptic membrane [inference]

cell junction [inference]

synapse

envelope [inference]

organelle envelope [inference]

nuclear envelope

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection

dendrite

Displaying entries **1 - 5** of 14 in total

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GO Term	Evidence Code	PMID
GABA-A receptor activity	ISS
GABA-A receptor activity	IDA	16412217
GABA-A receptor activity	IBA
chloride channel activity	IBA
ligand-gated monoatomic ion channel activity	ISS

GO Hierarchy

molecular function

transporter activity [inference]

transmembrane transporter activity [inference]

monoatomic ion transmembrane transporter activity [inference]

monoatomic ion channel activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

ligand-gated monoatomic ion channel activity

extracellular ligand-gated monoatomic ion channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

monoatomic anion transmembrane transporter activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

chloride transmembrane transporter activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

inorganic molecular entity transmembrane transporter activity [inference]

inorganic anion transmembrane transporter activity [inference]

chloride transmembrane transporter activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

passive transmembrane transporter activity [inference]

channel activity [inference]

monoatomic ion channel activity [inference]

monoatomic anion channel activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

ligand-gated monoatomic ion channel activity

extracellular ligand-gated monoatomic ion channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

gated channel activity [inference]

ligand-gated channel activity [inference]

ligand-gated monoatomic ion channel activity

extracellular ligand-gated monoatomic ion channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

ligand-gated monoatomic anion channel activity [inference]

GABA-gated chloride ion channel activity

ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

transmitter-gated channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

salt transmembrane transporter activity [inference]

chloride transmembrane transporter activity [inference]

chloride channel activity

GABA-gated chloride ion channel activity

binding [inference]

protein binding [inference]

signaling receptor binding [inference]

GABA receptor binding

molecular transducer activity [inference]

signaling receptor activity [inference]

transmembrane signaling receptor activity [inference]

G protein-coupled receptor activity [inference]

G protein-coupled neurotransmitter receptor activity [inference]

G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential

GABA receptor activity [inference]

GABA-A receptor activity

neurotransmitter receptor activity

transmitter-gated channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

postsynaptic neurotransmitter receptor activity [inference]

neurotransmitter receptor activity involved in regulation of postsynaptic membrane potential [inference]

transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential

G protein-coupled neurotransmitter receptor activity [inference]

G protein-coupled neurotransmitter receptor activity involved in regulation of presynaptic membrane potential

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

gamma-aminobutyric acid receptor

Functional Category

E: Amino acid transport and metabolism
T: Signal transduction mechanisms
X: Mobilome: prophages, transposons

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Gene Ontology
GABA-A receptor activity
chemical synaptic transmission
chloride channel activity
chloride transmembrane transport
chloride transport
extracellular ligand-gated monoatomic ion channel activity
monoatomic ion channel activity
monoatomic ion transport
nervous system process
neurotransmitter receptor activity

Displaying **all 8** entries
InterPro
Gamma-aminobutyric acid A receptor/Glycine receptor alpha
Neuronal acetylcholine receptor
Neurotransmitter-gated ion-channel ligand-binding domain superfamily
Neurotransmitter-gated ion-channel ligand-binding domain
Neurotransmitter-gated ion-channel transmembrane domain superfamily
Neurotransmitter-gated ion-channel transmembrane domain
Neurotransmitter-gated ion-channel, conserved site
Neurotransmitter-gated ion-channel

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0080428	developmental and epileptic encephalopathy 45	Alliance of Genome Resources
DOID:12849	autistic disorder	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 81 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	2560	Xenbase:XB-GENE-6049110
Drosophila melanogaster	2561	FB:FBgn0010240
Drosophila melanogaster	2562	FB:FBgn0010240
Drosophila melanogaster	2563	FB:FBgn0010240
Drosophila melanogaster	2568	FB:FBgn0010240
Drosophila melanogaster	2569	FB:FBgn0010240
Drosophila melanogaster	2570	FB:FBgn0010240
Mus musculus	14400	Xenbase:XB-GENE-6049110	MOUSE43404
Drosophila melanogaster	14401	FB:FBgn0010240
Drosophila melanogaster	14402	FB:FBgn0010240

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OrthoDB (Group)

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Acknowledgements