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Entry version 205 (12 Aug 2020)
Sequence version 1 (01 Dec 1992)
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Protein

Gamma-aminobutyric acid receptor subunit beta-3

Gene

GABRB3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:18514161, PubMed:22303015, PubMed:26950270, PubMed:22243422, PubMed:24909990). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:25489750). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (By similarity). The alpha1/beta3/gamma2 receptor exhibits synaptogenic activity (PubMed:25489750). The alpha2/beta3/gamma2 receptor shows very little or no synaptogenic activity (By similarity). Functions also as histamine receptor and mediates cellular responses to histamine (PubMed:18281286). Plays an important role in somatosensation and in the production of antinociception (By similarity).By similarity7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei225Agonist1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChloride channel, Ion channel, Ligand-gated ion channel, Receptor
Biological processIon transport, Transport
LigandChloride

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
P28472

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1236394, Signaling by ERBB4
R-HSA-977443, GABA receptor activation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P28472

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.9.5.4, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit beta-3
Alternative name(s):
GABA(A) receptor subunit beta-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GABRB3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000166206.13

Human Gene Nomenclature Database

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HGNCi
HGNC:4083, GABRB3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
137192, gene+phenotype

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P28472

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 245Extracellular1 PublicationAdd BLAST220
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei246 – 267HelicalAdd BLAST22
Topological domaini268 – 270Cytoplasmic1 Publication3
Transmembranei271 – 293HelicalAdd BLAST23
Topological domaini294 – 304Extracellular1 PublicationAdd BLAST11
Transmembranei305 – 327HelicalAdd BLAST23
Topological domaini328 – 450Cytoplasmic1 PublicationAdd BLAST123
Transmembranei451 – 472HelicalAdd BLAST22

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasmic vesicle, Membrane, Postsynaptic cell membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epilepsy, childhood absence 5 (ECA5)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04795732G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs71651682EnsemblClinVar.1
Isoform 2 (identifier: P28472-2)
Natural variantiVAR_08279011P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs25409Ensembl.1
Natural variantiVAR_08279115S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication1
Epileptic encephalopathy, early infantile, 43 (EIEE43)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. EIEE43 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077076120D → N in EIEE43; no effect on localization to the plasma membrane; decreased GABA-gated chloride ion channel activity; decreased single channel open probability. 3 PublicationsCorresponds to variant dbSNP:rs886037938EnsemblClinVar.1
Natural variantiVAR_078223124L → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519550EnsemblClinVar.1
Natural variantiVAR_078619138N → NH in EIEE43. 1 Publication1
Natural variantiVAR_077077157T → M in EIEE43; unknown pathological significance. 1 Publication1
Natural variantiVAR_077078182Y → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037939EnsemblClinVar.1
Natural variantiVAR_077079249Q → K in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037940EnsemblClinVar.1
Natural variantiVAR_078224254S → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519549EnsemblClinVar.1
Natural variantiVAR_077080256L → Q in EIEE43. 1 Publication1
Natural variantiVAR_078719287T → I in EIEE43. 1 Publication1
Natural variantiVAR_077081293L → H in EIEE43; unknown pathological significance. 1 Publication1
Natural variantiVAR_077082305A → T in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037941EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
2562

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
GABRB3

MalaCards human disease database

More...
MalaCardsi
GABRB3
MIMi137192, gene+phenotype
612269, phenotype
617113, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000166206

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
64280, Childhood absence epilepsy
2382, Lennox-Gastaut syndrome
106, NON RARE IN EUROPE: Autism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28497

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P28472, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1847

Drug and drug target database

More...
DrugBanki
DB00659, Acamprosate
DB00546, Adinazolam
DB00404, Alprazolam
DB00543, Amoxapine
DB11901, Apalutamide
DB11859, Brexanolone
DB01558, Bromazepam
DB00237, Butabarbital
DB00241, Butalbital
DB00475, Chlordiazepoxide
DB01594, Cinolazepam
DB00349, Clobazam
DB01068, Clonazepam
DB00628, Clorazepic acid
DB01559, Clotiazepam
DB01189, Desflurane
DB00829, Diazepam
DB00228, Enflurane
DB01215, Estazolam
DB00402, Eszopiclone
DB00898, Ethanol
DB00189, Ethchlorvynol
DB00292, Etomidate
DB01567, Fludiazepam
DB01205, Flumazenil
DB01544, Flunitrazepam
DB00690, Flurazepam
DB06716, Fospropofol
DB01437, Glutethimide
DB00801, Halazepam
DB01159, Halothane
DB00753, Isoflurane
DB00602, Ivermectin
DB00555, Lamotrigine
DB00431, Lindane
DB00186, Lorazepam
DB00603, Medroxyprogesterone acetate
DB01043, Memantine
DB00371, Meprobamate
DB00463, Metharbital
DB01028, Methoxyflurane
DB01107, Methyprylon
DB12458, Muscimol
DB01595, Nitrazepam
DB00842, Oxazepam
DB00312, Pentobarbital
DB00252, Phenytoin
DB00592, Piperazine
DB01708, Prasterone
DB01588, Prazepam
DB00794, Primidone
DB00818, Propofol
DB01589, Quazepam
DB01236, Sevoflurane
DB09118, Stiripentol
DB00306, Talbutal
DB01956, Taurine
DB00231, Temazepam
DB11582, Thiocolchicoside
DB00897, Triazolam

DrugCentral

More...
DrugCentrali
P28472

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
412

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GABRB3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
120773

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Sequence analysisAdd BLAST25
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000046226 – 473Gamma-aminobutyric acid receptor subunit beta-3Add BLAST448

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi33N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi105N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi161 ↔ 1751 Publication
Glycosylationi174N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
P28472

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P28472

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P28472

PeptideAtlas

More...
PeptideAtlasi
P28472

PRoteomics IDEntifications database

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PRIDEi
P28472

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
26235
43749
54485 [P28472-1]
54486 [P28472-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
P28472, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P28472

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P28472

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166206, Expressed in pituitary gland and 176 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P28472, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P28472, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000166206, Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (PubMed:22243422, PubMed:18281286, PubMed:18514161, PubMed:24909990). Can form functional homopentamers (in vitro) (PubMed:22303015).

Interacts with UBQLN1 (By similarity). May interact with KIF21B (By similarity).

Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity).

Interacts with LHFPL4 (By similarity).

By similarity5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P28472
With#Exp.IntAct
itself5EBI-6258252,EBI-6258252

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
108836, 10 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-2164, GABA-A receptor, alpha-6/beta-3/gamma-2
CPX-2166, GABA-A receptor, alpha-3/beta-3/gamma-2
CPX-2167, GABA-A receptor, alpha-1/beta-3/gamma-2
CPX-2168, GABA-A receptor, alpha-5/beta-3/gamma-2
CPX-2174, GABA-A receptor, alpha-2/beta-3/gamma-2
CPX-2951, GABA-A receptor, alpha-6/beta-3/delta
CPX-2954, GABA-A receptor, alpha-4/beta-3/delta

Database of interacting proteins

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DIPi
DIP-61029N

Protein interaction database and analysis system

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IntActi
P28472, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000308725

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P28472

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P28472, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1473
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P28472

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni120 – 122Agonist binding3
Regioni180 – 182Agonist binding3
Regioni290 – 311Allosteric effector bindingAdd BLAST22

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3643, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154713

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_010920_0_2_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P28472

KEGG Orthology (KO)

More...
KOi
K05181

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P28472

TreeFam database of animal gene trees

More...
TreeFami
TF315453

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.70.170.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006028, GABAA/Glycine_rcpt
IPR002289, GABAAb_rcpt
IPR006202, Neur_chan_lig-bd
IPR036734, Neur_chan_lig-bd_sf
IPR006201, Neur_channel
IPR036719, Neuro-gated_channel_TM_sf
IPR006029, Neurotrans-gated_channel_TM
IPR018000, Neurotransmitter_ion_chnl_CS

The PANTHER Classification System

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PANTHERi
PTHR18945, PTHR18945, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02931, Neur_chan_LBD, 1 hit
PF02932, Neur_chan_memb, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01160, GABAARBETA
PR00253, GABAARECEPTR
PR00252, NRIONCHANNEL

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF63712, SSF63712, 1 hit
SSF90112, SSF90112, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00860, LIC, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00236, NEUROTR_ION_CHANNEL, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Isoforms differ in their signal region.

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P28472-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MWGLAGGRLF GIFSAPVLVA VVCCAQSVND PGNMSFVKET VDKLLKGYDI
60 70 80 90 100
RLRPDFGGPP VCVGMNIDIA SIDMVSEVNM DYTLTMYFQQ YWRDKRLAYS
110 120 130 140 150
GIPLNLTLDN RVADQLWVPD TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL
160 170 180 190 200
YGLRITTTAA CMMDLRRYPL DEQNCTLEIE SYGYTTDDIE FYWRGGDKAV
210 220 230 240 250
TGVERIELPQ FSIVEHRLVS RNVVFATGAY PRLSLSFRLK RNIGYFILQT
260 270 280 290 300
YMPSILITIL SWVSFWINYD ASAARVALGI TTVLTMTTIN THLRETLPKI
310 320 330 340 350
PYVKAIDMYL MGCFVFVFLA LLEYAFVNYI FFGRGPQRQK KLAEKTAKAK
360 370 380 390 400
NDRSKSESNR VDAHGNILLT SLEVHNEMNE VSGGIGDTRN SAISFDNSGI
410 420 430 440 450
QYRKQSMPRE GHGRFLGDRS LPHKKTHLRR RSSQLKIKIP DLTDVNAIDR
460 470
WSRIVFPFTF SLFNLVYWLY YVN
Length:473
Mass (Da):54,116
Last modified:December 1, 1992 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD63597F7FBC69E71
GO
Isoform 2 (identifier: P28472-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: MWGLAGGRLFGIFSAPVLVAVVCCAQ → MCSGLLELLLPIWLSWTLGTRGSEPR

Show »
Length:473
Mass (Da):54,379
Checksum:i3A7F9A0EB3537D5E
GO
Isoform 3 (identifier: P28472-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3-80: GLAGGRLFGI...SIDMVSEVNM → ATYQTEE

Show »
Length:402
Mass (Da):46,740
Checksum:i5B5BB0E56D41435A
GO
Isoform 4 (identifier: P28472-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-85: Missing.

Show »
Length:388
Mass (Da):45,006
Checksum:i6646C270C24396F2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GU30A0A1B0GU30_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB3
264Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5H7N0F5H7N0_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB3
529Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GVW3A0A1B0GVW3_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB3
440Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V373G3V373_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB3
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V4W7G3V4W7_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB3
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YJU6H0YJU6_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB3
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti97L → H in BAH13811 (PubMed:14702039).Curated1
Sequence conflicti193W → R in BAH11997 (PubMed:14702039).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

GABRB3 variants may be associated with insomnia, a condition of inability to initiate or maintain sleep [MIMi:137192].

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04795732G → R in ECA5; the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs71651682EnsemblClinVar.1
Natural variantiVAR_077076120D → N in EIEE43; no effect on localization to the plasma membrane; decreased GABA-gated chloride ion channel activity; decreased single channel open probability. 3 PublicationsCorresponds to variant dbSNP:rs886037938EnsemblClinVar.1
Natural variantiVAR_078223124L → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519550EnsemblClinVar.1
Natural variantiVAR_078619138N → NH in EIEE43. 1 Publication1
Natural variantiVAR_077077157T → M in EIEE43; unknown pathological significance. 1 Publication1
Natural variantiVAR_047958173Q → L1 PublicationCorresponds to variant dbSNP:rs17850679Ensembl.1
Natural variantiVAR_077078182Y → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037939EnsemblClinVar.1
Natural variantiVAR_047959217R → H Found in a subject suffering from insomnia; functional analysis reveals a slower rate of the fast phase of desensitization compared with alpha1beta3gamma2S GABA(A) receptors; current deactivation is faster in the mutated receptors. 1 PublicationCorresponds to variant dbSNP:rs121913125EnsemblClinVar.1
Natural variantiVAR_079429232R → Q Found in patients with Dravet syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs797045045EnsemblClinVar.1
Natural variantiVAR_077079249Q → K in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037940EnsemblClinVar.1
Natural variantiVAR_078224254S → F in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs1057519549EnsemblClinVar.1
Natural variantiVAR_077080256L → Q in EIEE43. 1 Publication1
Natural variantiVAR_078719287T → I in EIEE43. 1 Publication1
Natural variantiVAR_077081293L → H in EIEE43; unknown pathological significance. 1 Publication1
Natural variantiVAR_077082305A → T in EIEE43. 1 PublicationCorresponds to variant dbSNP:rs886037941EnsemblClinVar.1
Isoform 2 (identifier: P28472-2)
Natural variantiVAR_08279011P → S in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs25409Ensembl.1
Natural variantiVAR_08279115S → F in ECA5, the mutant protein is hyperglycosylated and has reduced mean current densities compared to wild-type. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0466761 – 85Missing in isoform 4. 1 PublicationAdd BLAST85
Alternative sequenceiVSP_0000881 – 26MWGLA…VCCAQ → MCSGLLELLLPIWLSWTLGT RGSEPR in isoform 2. CuratedAdd BLAST26
Alternative sequenceiVSP_0461263 – 80GLAGG…SEVNM → ATYQTEE in isoform 3. 1 PublicationAdd BLAST78

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M82919 mRNA Translation: AAA52511.1
AK295167 mRNA Translation: BAH11997.1
AK302822 mRNA Translation: BAH13811.1
AC009878 Genomic DNA No translation available.
AC011196 Genomic DNA No translation available.
AC104569 Genomic DNA No translation available.
AC127511 Genomic DNA No translation available.
AC135999 Genomic DNA No translation available.
AC145167 Genomic DNA No translation available.
AC145196 Genomic DNA No translation available.
EU606048 Genomic DNA No translation available.
CH471151 Genomic DNA Translation: EAW57655.1
BC010641 mRNA Translation: AAH10641.1
L04311 Genomic DNA Translation: AAA52508.1
L04311 Genomic DNA Translation: AAA52507.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10018.1 [P28472-2]
CCDS10019.1 [P28472-1]
CCDS53920.1 [P28472-4]
CCDS53921.1 [P28472-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
A55275
B45468

NCBI Reference Sequences

More...
RefSeqi
NP_000805.1, NM_000814.5 [P28472-1]
NP_001178249.1, NM_001191320.1 [P28472-4]
NP_001178250.1, NM_001191321.2 [P28472-3]
NP_001265560.1, NM_001278631.1 [P28472-4]
NP_068712.1, NM_021912.4 [P28472-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000299267; ENSP00000299267; ENSG00000166206 [P28472-2]
ENST00000311550; ENSP00000308725; ENSG00000166206 [P28472-1]
ENST00000400188; ENSP00000383049; ENSG00000166206 [P28472-3]
ENST00000545868; ENSP00000439169; ENSG00000166206 [P28472-4]
ENST00000622697; ENSP00000481004; ENSG00000166206 [P28472-4]
ENST00000628124; ENSP00000486819; ENSG00000166206 [P28472-4]
ENST00000636466; ENSP00000489768; ENSG00000166206 [P28472-4]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2562

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2562

UCSC genome browser

More...
UCSCi
uc001zaz.5, human [P28472-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Protein Spotlight

Forbidden fruit - Issue 56 of March 2005

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M82919 mRNA Translation: AAA52511.1
AK295167 mRNA Translation: BAH11997.1
AK302822 mRNA Translation: BAH13811.1
AC009878 Genomic DNA No translation available.
AC011196 Genomic DNA No translation available.
AC104569 Genomic DNA No translation available.
AC127511 Genomic DNA No translation available.
AC135999 Genomic DNA No translation available.
AC145167 Genomic DNA No translation available.
AC145196 Genomic DNA No translation available.
EU606048 Genomic DNA No translation available.
CH471151 Genomic DNA Translation: EAW57655.1
BC010641 mRNA Translation: AAH10641.1
L04311 Genomic DNA Translation: AAA52508.1
L04311 Genomic DNA Translation: AAA52507.1
CCDSiCCDS10018.1 [P28472-2]
CCDS10019.1 [P28472-1]
CCDS53920.1 [P28472-4]
CCDS53921.1 [P28472-3]
PIRiA55275
B45468
RefSeqiNP_000805.1, NM_000814.5 [P28472-1]
NP_001178249.1, NM_001191320.1 [P28472-4]
NP_001178250.1, NM_001191321.2 [P28472-3]
NP_001265560.1, NM_001278631.1 [P28472-4]
NP_068712.1, NM_021912.4 [P28472-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4COFX-ray2.97A/B/C/D/E26-332[»]
A/B/C/D/E447-473[»]
5O8FX-ray3.20A/B/C/D/E26-246[»]
5OJMX-ray3.30A/B/C/D/E26-242[»]
6A96electron microscopy3.51B/C/D/E1-332[»]
6HUGelectron microscopy3.10B/E26-473[»]
6HUJelectron microscopy3.04B/E26-473[»]
6HUKelectron microscopy3.69B/E26-473[»]
6HUOelectron microscopy3.26B/E26-473[»]
6HUPelectron microscopy3.58B/E26-473[»]
6I53electron microscopy3.20B/E26-473[»]
SMRiP28472
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108836, 10 interactors
ComplexPortaliCPX-2164, GABA-A receptor, alpha-6/beta-3/gamma-2
CPX-2166, GABA-A receptor, alpha-3/beta-3/gamma-2
CPX-2167, GABA-A receptor, alpha-1/beta-3/gamma-2
CPX-2168, GABA-A receptor, alpha-5/beta-3/gamma-2
CPX-2174, GABA-A receptor, alpha-2/beta-3/gamma-2
CPX-2951, GABA-A receptor, alpha-6/beta-3/delta
CPX-2954, GABA-A receptor, alpha-4/beta-3/delta
DIPiDIP-61029N
IntActiP28472, 8 interactors
STRINGi9606.ENSP00000308725

Chemistry databases

BindingDBiP28472
ChEMBLiCHEMBL1847
DrugBankiDB00659, Acamprosate
DB00546, Adinazolam
DB00404, Alprazolam
DB00543, Amoxapine
DB11901, Apalutamide
DB11859, Brexanolone
DB01558, Bromazepam
DB00237, Butabarbital
DB00241, Butalbital
DB00475, Chlordiazepoxide
DB01594, Cinolazepam
DB00349, Clobazam
DB01068, Clonazepam
DB00628, Clorazepic acid
DB01559, Clotiazepam
DB01189, Desflurane
DB00829, Diazepam
DB00228, Enflurane
DB01215, Estazolam
DB00402, Eszopiclone
DB00898, Ethanol
DB00189, Ethchlorvynol
DB00292, Etomidate
DB01567, Fludiazepam
DB01205, Flumazenil
DB01544, Flunitrazepam
DB00690, Flurazepam
DB06716, Fospropofol
DB01437, Glutethimide
DB00801, Halazepam
DB01159, Halothane
DB00753, Isoflurane
DB00602, Ivermectin
DB00555, Lamotrigine
DB00431, Lindane
DB00186, Lorazepam
DB00603, Medroxyprogesterone acetate
DB01043, Memantine
DB00371, Meprobamate
DB00463, Metharbital
DB01028, Methoxyflurane
DB01107, Methyprylon
DB12458, Muscimol
DB01595, Nitrazepam
DB00842, Oxazepam
DB00312, Pentobarbital
DB00252, Phenytoin
DB00592, Piperazine
DB01708, Prasterone
DB01588, Prazepam
DB00794, Primidone
DB00818, Propofol
DB01589, Quazepam
DB01236, Sevoflurane
DB09118, Stiripentol
DB00306, Talbutal
DB01956, Taurine
DB00231, Temazepam
DB11582, Thiocolchicoside
DB00897, Triazolam
DrugCentraliP28472
GuidetoPHARMACOLOGYi412

Protein family/group databases

TCDBi1.A.9.5.4, the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family

PTM databases

GlyGeniP28472, 3 sites
iPTMnetiP28472
PhosphoSitePlusiP28472

Polymorphism and mutation databases

BioMutaiGABRB3
DMDMi120773

Proteomic databases

MassIVEiP28472
MaxQBiP28472
PaxDbiP28472
PeptideAtlasiP28472
PRIDEiP28472
ProteomicsDBi26235
43749
54485 [P28472-1]
54486 [P28472-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...
ABCDi
P28472, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
22323, 322 antibodies

The DNASU plasmid repository

More...
DNASUi
2562

Genome annotation databases

EnsembliENST00000299267; ENSP00000299267; ENSG00000166206 [P28472-2]
ENST00000311550; ENSP00000308725; ENSG00000166206 [P28472-1]
ENST00000400188; ENSP00000383049; ENSG00000166206 [P28472-3]
ENST00000545868; ENSP00000439169; ENSG00000166206 [P28472-4]
ENST00000622697; ENSP00000481004; ENSG00000166206 [P28472-4]
ENST00000628124; ENSP00000486819; ENSG00000166206 [P28472-4]
ENST00000636466; ENSP00000489768; ENSG00000166206 [P28472-4]
GeneIDi2562
KEGGihsa:2562
UCSCiuc001zaz.5, human [P28472-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2562
DisGeNETi2562
EuPathDBiHostDB:ENSG00000166206.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GABRB3
GeneReviewsiGABRB3
HGNCiHGNC:4083, GABRB3
HPAiENSG00000166206, Tissue enhanced (brain)
MalaCardsiGABRB3
MIMi137192, gene+phenotype
612269, phenotype
617113, phenotype
neXtProtiNX_P28472
OpenTargetsiENSG00000166206
Orphaneti64280, Childhood absence epilepsy
2382, Lennox-Gastaut syndrome
106, NON RARE IN EUROPE: Autism
PharmGKBiPA28497

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3643, Eukaryota
GeneTreeiENSGT00940000154713
HOGENOMiCLU_010920_0_2_1
InParanoidiP28472
KOiK05181
PhylomeDBiP28472
TreeFamiTF315453

Enzyme and pathway databases

PathwayCommonsiP28472
ReactomeiR-HSA-1236394, Signaling by ERBB4
R-HSA-977443, GABA receptor activation
SignaLinkiP28472

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
2562, 4 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GABRB3, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GABRB3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
2562
PharosiP28472, Tclin

Protein Ontology

More...
PROi
PR:P28472
RNActiP28472, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000166206, Expressed in pituitary gland and 176 other tissues
ExpressionAtlasiP28472, baseline and differential
GenevisibleiP28472, HS

Family and domain databases

Gene3Di2.70.170.10, 1 hit
InterProiView protein in InterPro
IPR006028, GABAA/Glycine_rcpt
IPR002289, GABAAb_rcpt
IPR006202, Neur_chan_lig-bd
IPR036734, Neur_chan_lig-bd_sf
IPR006201, Neur_channel
IPR036719, Neuro-gated_channel_TM_sf
IPR006029, Neurotrans-gated_channel_TM
IPR018000, Neurotransmitter_ion_chnl_CS
PANTHERiPTHR18945, PTHR18945, 1 hit
PfamiView protein in Pfam
PF02931, Neur_chan_LBD, 1 hit
PF02932, Neur_chan_memb, 1 hit
PRINTSiPR01160, GABAARBETA
PR00253, GABAARECEPTR
PR00252, NRIONCHANNEL
SUPFAMiSSF63712, SSF63712, 1 hit
SSF90112, SSF90112, 1 hit
TIGRFAMsiTIGR00860, LIC, 1 hit
PROSITEiView protein in PROSITE
PS00236, NEUROTR_ION_CHANNEL, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGBRB3_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P28472
Secondary accession number(s): B7Z2W1
, B7Z825, F5H3D2, H7BYV8, Q14352, Q96FM5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: December 1, 1992
Last modified: August 12, 2020
This is version 205 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
  7. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
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