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Protein

Gamma-aminobutyric acid receptor subunit beta-1

Gene

GABRB1

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

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.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 sitei225AgonistBy similarity1

<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

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-977441 GABA A receptor activation
R-HSA-977443 GABA receptor activation

<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_and_taxonomy_section">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-1
Alternative name(s):
GABA(A) receptor subunit beta-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:GABRB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000163288.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4081 GABRB1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
137190 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P18505

<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; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 245ExtracellularCuratedAdd BLAST220
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'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 – 267HelicalCuratedAdd BLAST22
Transmembranei271 – 293HelicalCuratedAdd BLAST23
Transmembranei305 – 327HelicalCuratedAdd BLAST23
Topological domaini328 – 451CytoplasmicCuratedAdd BLAST124
Transmembranei452 – 473HelicalCuratedAdd BLAST22

Keywords - Cellular componenti

Cell junction, Cell membrane, 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

Epileptic encephalopathy, early infantile, 45 (EIEE45)3 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.
See also OMIM:617153
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_077104246F → S in EIEE45; no effect on localization to the plasma membrane; increased GABA-gated chloride ion channel activity; increased single channel burst duration. 2 PublicationsCorresponds to variant dbSNP:rs886039817EnsemblClinVar.1
Natural variantiVAR_077105287T → I in EIEE45. 1 PublicationCorresponds to variant dbSNP:rs886039818EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
2560

MalaCards human disease database

More...
MalaCardsi
GABRB1
MIMi617153 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000163288

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28495

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3885570

Drug and drug target database

More...
DrugBanki
DB00659 Acamprosate
DB00546 Adinazolam
DB00404 Alprazolam
DB00543 Amoxapine
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB01440 Gamma Hydroxybutyric Acid
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB01587 Ketazolam
DB00431 Lindane
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GABRB1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
23831128

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000045626 – 474Gamma-aminobutyric acid receptor subunit beta-1Add BLAST449

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi105N-linked (GlcNAc...) asparagineSequence analysis1
<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 ↔ 175By similarity
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P18505

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

More...
PaxDbi
P18505

PeptideAtlas

More...
PeptideAtlasi
P18505

PRoteomics IDEntifications database

More...
PRIDEi
P18505

ProteomicsDB human proteome resource

More...
ProteomicsDBi
53568

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P18505

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

More...
PhosphoSitePlusi
P18505

<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
ENSG00000163288 Expressed in 119 organ(s), highest expression level in Brodmann (1909) area 23

CleanEx database of gene expression profiles

More...
CleanExi
HS_GABRB1

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P18505 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P18505 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA051297

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds UBQLN1 (By similarity). Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains. Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108834, 5 interactors

Protein interaction database and analysis system

More...
IntActi
P18505, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000295454

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P18505

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P18505

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

More...
SMRi
P18505

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 bindingBy similarity3
Regioni180 – 182Agonist bindingBy similarity3
Regioni290 – 311Allosteric effector bindingBy similarityAdd 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
ENOG410XPWH LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154245

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231335

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG051707

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P18505

KEGG Orthology (KO)

More...
KOi
K05181

Identification of Orthologs from Complete Genome Data

More...
OMAi
WNGGESA

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0805

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P18505

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

More...
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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 2 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P18505-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MWTVQNRESL GLLSFPVMIT MVCCAHSTNE PSNMSYVKET VDRLLKGYDI
60 70 80 90 100
RLRPDFGGPP VDVGMRIDVA SIDMVSEVNM DYTLTMYFQQ SWKDKRLSYS
110 120 130 140 150
GIPLNLTLDN RVADQLWVPD TYFLNDKKSF VHGVTVKNRM IRLHPDGTVL
160 170 180 190 200
YGLRITTTAA CMMDLRRYPL DEQNCTLEIE SYGYTTDDIE FYWNGGEGAV
210 220 230 240 250
TGVNKIELPQ FSIVDYKMVS KKVEFTTGAY PRLSLSFRLK RNIGYFILQT
260 270 280 290 300
YMPSTLITIL SWVSFWINYD ASAARVALGI TTVLTMTTIS THLRETLPKI
310 320 330 340 350
PYVKAIDIYL MGCFVFVFLA LLEYAFVNYI FFGKGPQKKG ASKQDQSANE
360 370 380 390 400
KNKLEMNKVQ VDAHGNILLS TLEIRNETSG SEVLTSVSDP KATMYSYDSA
410 420 430 440 450
SIQYRKPLSS REAYGRALDR HGVPSKGRIR RRASQLKVKI PDLTDVNSID
460 470
KWSRMFFPIT FSLFNVVYWL YYVH
Length:474
Mass (Da):54,235
Last modified:October 10, 2002 - v2
<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:i05DA70F6FCD04E54
GO
Isoform 2 (identifier: P18505-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     59-87: PPVDVGMRIDVASIDMVSEVNMDYTLTMY → LYTHHVFPAVLERQKAFLFWNPTEPHPRQ
     88-474: Missing.

Show »
Length:87
Mass (Da):10,151
Checksum:i643ED4FE2F506FDA
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6REM0D6REM0_HUMAN
Gamma-aminobutyric acid receptor su...
GABRB1
117Annotation 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 conflicti35S → P in CAA32875 (PubMed:2465923).Curated1
Sequence conflicti117W → C in AAH22449 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077104246F → S in EIEE45; no effect on localization to the plasma membrane; increased GABA-gated chloride ion channel activity; increased single channel burst duration. 2 PublicationsCorresponds to variant dbSNP:rs886039817EnsemblClinVar.1
Natural variantiVAR_077105287T → I in EIEE45. 1 PublicationCorresponds to variant dbSNP:rs886039818EnsemblClinVar.1
Natural variantiVAR_000302421H → Q Found in 1.1% of population and in some schizophrenic patients. 1 PublicationCorresponds to variant dbSNP:rs41311286EnsemblClinVar.1
Natural variantiVAR_035441429I → N1 PublicationCorresponds to variant dbSNP:rs17852014Ensembl.1

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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05590059 – 87PPVDV…TLTMY → LYTHHVFPAVLERQKAFLFW NPTEPHPRQ in isoform 2. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_05590188 – 474Missing in isoform 2. 1 PublicationAdd BLAST387

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
X14767 mRNA Translation: CAA32875.1
M59216
, M59212, M59214, M59215 Genomic DNA Translation: AAA35862.1
KJ535054 mRNA Translation: AHW56693.1
AK312720 mRNA Translation: BAG35594.1
AC097712 Genomic DNA No translation available.
AC105394 Genomic DNA No translation available.
AC107383 Genomic DNA No translation available.
AC107392 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW93031.1
BC022449 mRNA Translation: AAH22449.1
S70733 mRNA Translation: AAB30712.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3474.1 [P18505-1]

Protein sequence database of the Protein Information Resource

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PIRi
A40336

NCBI Reference Sequences

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RefSeqi
NP_000803.2, NM_000812.3 [P18505-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.254117
Hs.27283
Hs.633316

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000295454; ENSP00000295454; ENSG00000163288 [P18505-1]
ENST00000510909; ENSP00000426766; ENSG00000163288 [P18505-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2560

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2560

UCSC genome browser

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UCSCi
uc062wjg.1 human [P18505-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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_references_section">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
X14767 mRNA Translation: CAA32875.1
M59216
, M59212, M59214, M59215 Genomic DNA Translation: AAA35862.1
KJ535054 mRNA Translation: AHW56693.1
AK312720 mRNA Translation: BAG35594.1
AC097712 Genomic DNA No translation available.
AC105394 Genomic DNA No translation available.
AC107383 Genomic DNA No translation available.
AC107392 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW93031.1
BC022449 mRNA Translation: AAH22449.1
S70733 mRNA Translation: AAB30712.1
CCDSiCCDS3474.1 [P18505-1]
PIRiA40336
RefSeqiNP_000803.2, NM_000812.3 [P18505-1]
UniGeneiHs.254117
Hs.27283
Hs.633316

3D structure databases

ProteinModelPortaliP18505
SMRiP18505
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108834, 5 interactors
IntActiP18505, 4 interactors
STRINGi9606.ENSP00000295454

Chemistry databases

BindingDBiP18505
ChEMBLiCHEMBL3885570
DrugBankiDB00659 Acamprosate
DB00546 Adinazolam
DB00404 Alprazolam
DB00543 Amoxapine
DB01558 Bromazepam
DB00237 Butabarbital
DB00241 Butalbital
DB00475 Chlordiazepoxide
DB01594 Cinolazepam
DB00349 Clobazam
DB01068 Clonazepam
DB00628 Clorazepate
DB01559 Clotiazepam
DB01189 Desflurane
DB00829 Diazepam
DB00228 Enflurane
DB01049 Ergoloid mesylate
DB01215 Estazolam
DB00402 Eszopiclone
DB00898 Ethanol
DB00189 Ethchlorvynol
DB00292 Etomidate
DB01567 Fludiazepam
DB01205 Flumazenil
DB00690 Flurazepam
DB01440 Gamma Hydroxybutyric Acid
DB01437 Glutethimide
DB00801 Halazepam
DB01159 Halothane
DB00753 Isoflurane
DB01587 Ketazolam
DB00431 Lindane
DB00186 Lorazepam
DB00371 Meprobamate
DB00463 Metharbital
DB01028 Methoxyflurane
DB01107 Methyprylon
DB00683 Midazolam
DB01595 Nitrazepam
DB00334 Olanzapine
DB00842 Oxazepam
DB00312 Pentobarbital
DB01708 Prasterone
DB01588 Prazepam
DB00794 Primidone
DB00818 Propofol
DB01589 Quazepam
DB01236 Sevoflurane
DB00306 Talbutal
DB00231 Temazepam
DB11582 Thiocolchicoside
DB00273 Topiramate
DB00897 Triazolam

PTM databases

iPTMnetiP18505
PhosphoSitePlusiP18505

Polymorphism and mutation databases

BioMutaiGABRB1
DMDMi23831128

Proteomic databases

EPDiP18505
PaxDbiP18505
PeptideAtlasiP18505
PRIDEiP18505
ProteomicsDBi53568

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2560
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295454; ENSP00000295454; ENSG00000163288 [P18505-1]
ENST00000510909; ENSP00000426766; ENSG00000163288 [P18505-2]
GeneIDi2560
KEGGihsa:2560
UCSCiuc062wjg.1 human [P18505-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2560
DisGeNETi2560
EuPathDBiHostDB:ENSG00000163288.13

GeneCards: human genes, protein and diseases

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GeneCardsi
GABRB1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0004191
HIX0164000
HGNCiHGNC:4081 GABRB1
HPAiHPA051297
MalaCardsiGABRB1
MIMi137190 gene
617153 phenotype
neXtProtiNX_P18505
OpenTargetsiENSG00000163288
PharmGKBiPA28495

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3643 Eukaryota
ENOG410XPWH LUCA
GeneTreeiENSGT00940000154245
HOGENOMiHOG000231335
HOVERGENiHBG051707
InParanoidiP18505
KOiK05181
OMAiWNGGESA
OrthoDBiEOG091G0805
PhylomeDBiP18505
TreeFamiTF315453

Enzyme and pathway databases

ReactomeiR-HSA-977441 GABA A receptor activation
R-HSA-977443 GABA receptor activation

Miscellaneous databases

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

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ChiTaRSi
GABRB1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GABRB1

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

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GenomeRNAii
2560

Protein Ontology

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PROi
PR:P18505

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000163288 Expressed in 119 organ(s), highest expression level in Brodmann (1909) area 23
CleanExiHS_GABRB1
ExpressionAtlasiP18505 baseline and differential
GenevisibleiP18505 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...

<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 nameiGBRB1_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: P18505
Secondary accession number(s): B2R6U7
, D6REL3, Q16166, Q8TBK3
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: October 10, 2002
Last modified: December 5, 2018
This is version 191 of the entry and version 2 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

Complete proteome, Reference proteome

Documents

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