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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-Experimental evidence at transcript 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 (By similarity).By similarity

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
  • ion transmembrane transport Source: Reactome
  • ion transport Source: UniProtKB
  • ovulation cycle Source: Ensembl
  • response to progesterone Source: Ensembl
  • response to toxic substance Source: Ensembl
  • signal transduction Source: ProtInc
  • transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel, Ligand-gated ion channel, Receptor

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
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

HGNCiHGNC:4081. GABRB1.

Subcellular locationi

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2560.
OpenTargetsiENSG00000163288.
PharmGKBiPA28495.

Chemistry databases

ChEMBLiCHEMBL2111392.
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.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
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...)Sequence analysis1
Disulfide bondi161 ↔ 175By similarity
Glycosylationi174N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP18505.
PaxDbiP18505.
PeptideAtlasiP18505.
PRIDEiP18505.

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

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.
OMAiCAHSSNE.
OrthoDBiEOG091G0805.
PhylomeDBiP18505.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR002289. GABAAb_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01160. GABAARBETA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]

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_000302421H → Q Found in 1.1% of population and in some schizophrenic patients. 1 PublicationCorresponds to variant rs41311286dbSNPEnsembl.1
Natural variantiVAR_035441429I → N.1 PublicationCorresponds to variant rs17852014dbSNPEnsembl.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

Cross-referencesi

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.
ChEMBLiCHEMBL2111392.
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.
DB01028. Methoxyflurane.
DB01107. Methyprylon.
DB00683. Midazolam.
DB01595. Nitrazepam.
DB00334. Olanzapine.
DB00842. Oxazepam.
DB00312. Pentobarbital.
DB01588. Prazepam.
DB00794. Primidone.
DB00818. Propofol.
DB01589. Quazepam.
DB01236. Sevoflurane.
DB00306. Talbutal.
DB00231. Temazepam.
DB00273. Topiramate.
DB00897. Triazolam.

PTM databases

iPTMnetiP18505.
PhosphoSitePlusiP18505.

Polymorphism and mutation databases

BioMutaiGABRB1.
DMDMi23831128.

Proteomic databases

EPDiP18505.
PaxDbiP18505.
PeptideAtlasiP18505.
PRIDEiP18505.

Protocols and materials databases

DNASUi2560.
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

CTDi2560.
DisGeNETi2560.
GeneCardsiGABRB1.
H-InvDBHIX0004191.
HIX0164000.
HGNCiHGNC:4081. GABRB1.
HPAiHPA051297.
MIMi137190. gene.
neXtProtiNX_P18505.
OpenTargetsiENSG00000163288.
PharmGKBiPA28495.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-112314. Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
R-HSA-975298. Ligand-gated ion channel transport.
R-HSA-977441. GABA A receptor activation.

Miscellaneous databases

GeneWikiiGABRB1.
GenomeRNAii2560.
PROiP18505.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163288.
CleanExiHS_GABRB1.
ExpressionAtlasiP18505. baseline and differential.
GenevisibleiP18505. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR002289. GABAAb_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERiPTHR18945. PTHR18945. 2 hits.
PfamiPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSiPR01160. GABAARBETA.
PR00253. GABAARECEPTR.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 1 hit.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGBRB1_HUMAN
AccessioniPrimary (citable) accession number: P18505
Secondary accession number(s): B2R6U7
, D6REL3, Q16166, Q8TBK3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1990
Last sequence update: October 10, 2002
Last modified: November 2, 2016
This is version 174 of the entry and version 2 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.