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Protein

Gamma-aminobutyric acid receptor subunit epsilon

Gene

GABRE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel.

GO - Molecular functioni

  • GABA-A receptor activity Source: InterPro
  • GABA-gated chloride ion channel activity Source: GO_Central

GO - Biological processi

  • negative regulation of chloride transport Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102287-MONOMER.

Names & Taxonomyi

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

Organism-specific databases

HGNCiHGNC:4085. GABRE.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 253ExtracellularCuratedAdd BLAST231
Transmembranei254 – 274HelicalSequence analysisAdd BLAST21
Transmembranei281 – 301HelicalSequence analysisAdd BLAST21
Transmembranei344 – 364HelicalSequence analysisAdd BLAST21
Topological domaini365 – 485CytoplasmicCuratedAdd BLAST121
Transmembranei486 – 506HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

  • cell junction Source: UniProtKB-KW
  • chloride channel complex Source: UniProtKB-KW
  • GABA-A receptor complex Source: GO_Central
  • postsynaptic membrane Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi2564.
OpenTargetsiENSG00000102287.
PharmGKBiPA28499.

Chemistry databases

ChEMBLiCHEMBL2093872.
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.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB00753. Isoflurane.
DB01587. Ketazolam.
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

BioMutaiGABRE.
DMDMi13124728.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Sequence analysisAdd BLAST22
ChainiPRO_000000047123 – 506Gamma-aminobutyric acid receptor subunit epsilonAdd BLAST484

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi134N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi195 ↔ 209By similarity
Glycosylationi252N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP78334.
PeptideAtlasiP78334.
PRIDEiP78334.

PTM databases

iPTMnetiP78334.
PhosphoSitePlusiP78334.

Expressioni

Tissue specificityi

Expressed in many tissues. Highest levels of expression in adult heart and placenta.

Gene expression databases

BgeeiENSG00000102287.
CleanExiHS_GABRE.
ExpressionAtlasiP78334. baseline and differential.
GenevisibleiP78334. HS.

Organism-specific databases

HPAiHPA045918.

Interactioni

Subunit structurei

Generally pentameric. Associates with alpha and beta subunits.

Protein-protein interaction databases

BioGridi108838. 42 interactors.
STRINGi9606.ENSP00000359353.

Structurei

3D structure databases

ProteinModelPortaliP78334.
SMRiP78334.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP78334.
KOiK05185.
OMAiCALMEFA.
OrthoDBiEOG091G0805.
PhylomeDBiP78334.
TreeFamiTF315453.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR008099. GABAAe_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]
PRINTSiPR00253. GABAARECEPTR.
PR01723. GABAAREPSLON.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
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: P78334-1) [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
MLSKVLPVLL GILLILQSRV EGPQTESKNE ASSRDVVYGP QPQPLENQLL
60 70 80 90 100
SEETKSTETE TGSRVGKLPE ASRILNTILS NYDHKLRPGI GEKPTVVTVE
110 120 130 140 150
ISVNSLGPLS ILDMEYTIDI IFSQTWYDER LCYNDTFESL VLNGNVVSQL
160 170 180 190 200
WIPDTFFRNS KRTHEHEITM PNQMVRIYKD GKVLYTIRMT IDAGCSLHML
210 220 230 240 250
RFPMDSHSCP LSFSSFSYPE NEMIYKWENF KLEINEKNSW KLFQFDFTGV
260 270 280 290 300
SNKTEIITTP VGDFMVMTIF FNVSRRFGYV AFQNYVPSSV TTMLSWVSFW
310 320 330 340 350
IKTESAPART SLGITSVLTM TTLGTFSRKN FPRVSYITAL DFYIAICFVF
360 370 380 390 400
CFCALLEFAV LNFLIYNQTK AHASPKLRHP RINSRAHART RARSRACARQ
410 420 430 440 450
HQEAFVCQIV TTEGSDGEER PSCSAQQPPS PGSPEGPRSL CSKLACCEWC
460 470 480 490 500
KRFKKYFCMV PDCEGSTWQQ GRLCIHVYRL DNYSRVVFPV TFFFFNVLYW

LVCLNL
Length:506
Mass (Da):57,972
Last modified:February 21, 2001 - v2
Checksum:i013EE136EECFCC73
GO
Isoform 2 (identifier: P78334-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     365-365: I → M
     366-506: Missing.

Note: No experimental confirmation available.
Show »
Length:365
Mass (Da):41,760
Checksum:iED38A831194D3EFD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti245F → L in CAA70903 (PubMed:9339354).Curated1
Sequence conflicti261Missing in CAA68914 (PubMed:9084408).Curated1
Sequence conflicti471G → A in CAA70903 (PubMed:9339354).Curated1
Sequence conflicti502V → F in CAA70903 (PubMed:9339354).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0710899L → F.1 PublicationCorresponds to variant rs17855708dbSNPEnsembl.1
Natural variantiVAR_048175102S → A.3 PublicationsCorresponds to variant rs1139916dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055776365I → M in isoform 2. 1 Publication1
Alternative sequenceiVSP_055777366 – 506Missing in isoform 2. 1 PublicationAdd BLAST141

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66661 mRNA. Translation: AAB49284.1.
Y09763, Y09764 Genomic DNA. Translation: CAA70903.1.
Y09765 mRNA. Translation: CAA70904.1.
Y07637 mRNA. Translation: CAA68914.1.
U92283, U92281, U92282 Genomic DNA. Translation: AAB94645.1.
AF274855 Genomic DNA. No translation available.
BC026337 mRNA. Translation: AAH26337.1.
BC047108 mRNA. Translation: AAH47108.1.
BC059376 mRNA. Translation: AAH59376.1.
CCDSiCCDS14703.1. [P78334-1]
RefSeqiNP_004952.2. NM_004961.3. [P78334-1]
UniGeneiHs.22785.

Genome annotation databases

EnsembliENST00000370328; ENSP00000359353; ENSG00000102287. [P78334-1]
GeneIDi2564.
KEGGihsa:2564.
UCSCiuc004ffi.3. human. [P78334-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U66661 mRNA. Translation: AAB49284.1.
Y09763, Y09764 Genomic DNA. Translation: CAA70903.1.
Y09765 mRNA. Translation: CAA70904.1.
Y07637 mRNA. Translation: CAA68914.1.
U92283, U92281, U92282 Genomic DNA. Translation: AAB94645.1.
AF274855 Genomic DNA. No translation available.
BC026337 mRNA. Translation: AAH26337.1.
BC047108 mRNA. Translation: AAH47108.1.
BC059376 mRNA. Translation: AAH59376.1.
CCDSiCCDS14703.1. [P78334-1]
RefSeqiNP_004952.2. NM_004961.3. [P78334-1]
UniGeneiHs.22785.

3D structure databases

ProteinModelPortaliP78334.
SMRiP78334.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108838. 42 interactors.
STRINGi9606.ENSP00000359353.

Chemistry databases

ChEMBLiCHEMBL2093872.
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.
DB01437. Glutethimide.
DB00801. Halazepam.
DB01159. Halothane.
DB00753. Isoflurane.
DB01587. Ketazolam.
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

iPTMnetiP78334.
PhosphoSitePlusiP78334.

Polymorphism and mutation databases

BioMutaiGABRE.
DMDMi13124728.

Proteomic databases

PaxDbiP78334.
PeptideAtlasiP78334.
PRIDEiP78334.

Protocols and materials databases

DNASUi2564.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000370328; ENSP00000359353; ENSG00000102287. [P78334-1]
GeneIDi2564.
KEGGihsa:2564.
UCSCiuc004ffi.3. human. [P78334-1]

Organism-specific databases

CTDi2564.
DisGeNETi2564.
GeneCardsiGABRE.
HGNCiHGNC:4085. GABRE.
HPAiHPA045918.
MIMi300093. gene.
neXtProtiNX_P78334.
OpenTargetsiENSG00000102287.
PharmGKBiPA28499.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3642. Eukaryota.
ENOG410XNQG. LUCA.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP78334.
KOiK05185.
OMAiCALMEFA.
OrthoDBiEOG091G0805.
PhylomeDBiP78334.
TreeFamiTF315453.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102287-MONOMER.

Miscellaneous databases

ChiTaRSiGABRE. human.
GeneWikiiGABRE.
GenomeRNAii2564.
PROiP78334.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102287.
CleanExiHS_GABRE.
ExpressionAtlasiP78334. baseline and differential.
GenevisibleiP78334. HS.

Family and domain databases

Gene3Di2.70.170.10. 1 hit.
InterProiIPR006028. GABAA/Glycine_rcpt.
IPR008099. GABAAe_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]
PRINTSiPR00253. GABAARECEPTR.
PR01723. GABAAREPSLON.
PR00252. NRIONCHANNEL.
SUPFAMiSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
TIGRFAMsiTIGR00860. LIC. 1 hit.
PROSITEiPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGBRE_HUMAN
AccessioniPrimary (citable) accession number: P78334
Secondary accession number(s): E7ET93
, O15345, O15346, Q6PCD2, Q99520
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 21, 2001
Last modified: November 2, 2016
This is version 153 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 X
    Human chromosome X: 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. 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.