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Gamma-aminobutyric acid receptor subunit beta-1

Summary

UniProt ID: P18505
Gene Symbol: GABRB1
Gene ID: 2560
Organism: Homo sapiens (human)

External Links

PubChem: P18505
The Human Metabolome Database: HMDBP08204
Re-Glyco: P18505

Annotation

Keyword: 3D-structure Alternative splicing Cell membrane Chloride channel Disease variant Disulfide bond Epilepsy Glycoprotein Ligand-gated ion channel Postsynaptic cell membrane Proteomics identification Receptor Reference proteome Signal Transmembrane helix

Gene Ontology (GO)

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	Reference
monoatomic ion transport	ISS	GO_REF
ion transport	ISS	GO_REF
monoatomic ion transport	IEA	GO_REF GO_REF
ion transport	IEA	GO_REF GO_REF
signal transduction	TAS	PMID

GO Hierarchy

biological process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

gamma-aminobutyric acid signaling pathway

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, GABAergic

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 nitrogen compound [inference]

cellular response to histamine

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic 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

response to chemical [inference]

response to toxic substance

response to hormone [inference]

response to steroid hormone [inference]

response to progesterone

response to lipid [inference]

response to steroid hormone [inference]

response to progesterone

cellular response to chemical stimulus [inference]

cellular response to nitrogen compound [inference]

cellular response to histamine

response to nitrogen compound [inference]

response to histamine [inference]

cellular response to histamine

cellular response to nitrogen 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 nitrogen 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

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic 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

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

synaptic transmission, GABAergic

regulation of cellular process [inference]

signal transduction

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	Reference
nuclear envelope	IEA	GO_REF
plasma membrane	ISS	GO_REF
plasma membrane	TAS	PMID Reactome
plasma membrane	IDA	PMID
plasma membrane	IBA	GO_REF

GO Hierarchy

cellular component

protein-containing complex [inference]

signaling receptor complex [inference]

GABA receptor complex [inference]

GABA-A receptor complex

membrane protein complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

chloride channel complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

chloride channel complex

cellular anatomical structure [inference]

membrane [inference]

plasma membrane

plasma membrane region [inference]

synaptic membrane [inference]

cell junction [inference]

synapse [inference]

organelle envelope [inference]

nuclear envelope

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

dendrite

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

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GO Term	Evidence Code	Reference
GABA-A receptor activity	ISS	GO_REF
GABA-A receptor activity	IDA	PMID
GABA-A receptor activity	IBA	GO_REF
GABA-A receptor activity	IEA	GO_REF GO_REF
ligand-gated monoatomic ion channel activity	ISS	GO_REF

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 [inference]

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 [inference]

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 [inference]

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 [inference]

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]

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]

GABA receptor activity [inference]

GABA-A receptor activity

neurotransmitter receptor activity [inference]

transmitter-gated channel activity [inference]

transmitter-gated monoatomic ion channel activity [inference]

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPPVDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 2** entries
Position	Description	PubMed ID	GlyTouCan ID	Source
105	N-linked (GlcNAc...) asparagine			UniProt
174	N-linked (GlcNAc...) asparagine			UniProt

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 2** entries
Pathway Name	Organism
GABA receptor activation	Homo sapiens
Signaling by ERBB4	Homo sapiens

Disease

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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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External Links

Annotation

International Collaboration

Acknowledgements