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Protein

Gamma-aminobutyric acid receptor subunit beta-1

Gene

GABRB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Binding sitei225AgonistBy similarity1

GO - Molecular functioni

GO - Biological processi

  • cellular response to histamine Source: UniProtKB
  • central nervous system neuron development Source: Ensembl
  • chloride transmembrane transport Source: GO_Central
  • gamma-aminobutyric acid signaling pathway Source: UniProtKB
  • ion transport Source: UniProtKB
  • ovulation cycle Source: Ensembl
  • response to progesterone Source: Ensembl
  • response to toxic substance Source: Ensembl
  • signal transduction Source: ProtInc

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-977441 GABA A receptor activation

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-aminobutyric acid receptor subunit beta-1
Alternative name(s):
GABA(A) receptor subunit beta-1
Gene namesi
Name:GABRB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000163288.13
HGNCiHGNC:4081 GABRB1
MIMi137190 gene
neXtProtiNX_P18505

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
Topological domaini26 – 245ExtracellularCuratedAdd BLAST220
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

Pathology & Biotechi

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
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

DisGeNETi2560
MalaCardsiGABRB1
MIMi617153 phenotype
OpenTargetsiENSG00000163288
PharmGKBiPA28495

Chemistry databases

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

Polymorphism and mutation databases

BioMutaiGABRB1
DMDMi23831128

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 25Sequence analysisAdd BLAST25
ChainiPRO_000000045626 – 474Gamma-aminobutyric acid receptor subunit beta-1Add BLAST449

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi105N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi161 ↔ 175By similarity
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP18505
PaxDbiP18505
PeptideAtlasiP18505
PRIDEiP18505
ProteomicsDBi53568

PTM databases

iPTMnetiP18505
PhosphoSitePlusiP18505

Expressioni

Gene expression databases

BgeeiENSG00000163288
CleanExiHS_GABRB1
ExpressionAtlasiP18505 baseline and differential
GenevisibleiP18505 HS

Organism-specific databases

HPAiHPA051297

Interactioni

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

BioGridi108834, 5 interactors
IntActiP18505, 4 interactors
STRINGi9606.ENSP00000295454

Chemistry databases

BindingDBiP18505

Structurei

3D structure databases

ProteinModelPortaliP18505
SMRiP18505
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni120 – 122Agonist bindingBy similarity3
Regioni180 – 182Agonist bindingBy similarity3
Regioni290 – 311Allosteric effector bindingBy similarityAdd BLAST22

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3643 Eukaryota
ENOG410XPWH LUCA
GeneTreeiENSGT00760000118821
HOGENOMiHOG000231335
HOVERGENiHBG051707
InParanoidiP18505
KOiK05181
OMAiDQGANEK
OrthoDBiEOG091G0805
PhylomeDBiP18505
TreeFamiTF315453

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

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGBRB1_HUMAN
AccessioniPrimary (citable) accession number: P18505
Secondary accession number(s): B2R6U7
, D6REL3, Q16166, Q8TBK3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: October 10, 2002
Last modified: July 18, 2018
This is version 188 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: 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. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  6. SIMILARITY comments
    Index of protein domains and families

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