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Protein

Gamma-aminobutyric acid receptor subunit epsilon

Gene

GABRE

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

Keywordsi

Molecular functionChloride channel, Ion channel
Biological processIon transport, Transport
LigandChloride

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

EuPathDBiHostDB:ENSG00000102287.16
HGNCiHGNC:4085 GABRE
MIMi300093 gene
neXtProtiNX_P78334

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 domaini23 – 253ExtracellularCuratedAdd BLAST231
Transmembranei254 – 274HelicalSequence analysisAdd BLAST21
Transmembranei281 – 301HelicalSequence analysisAdd BLAST21
Transmembranei344 – 364HelicalSequence analysisAdd BLAST21
Topological domaini365 – 485CytoplasmicCuratedAdd BLAST121
Transmembranei486 – 506HelicalSequence analysisAdd BLAST21

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
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

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...) asparagineSequence analysis1
Disulfide bondi195 ↔ 209By similarity
Glycosylationi252N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP78334
PeptideAtlasiP78334
PRIDEiP78334
ProteomicsDBi57572

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, 43 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
InterProiView protein in InterPro
IPR006028 GABAA/Glycine_rcpt
IPR008099 GABAAe_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
PRINTSiPR00253 GABAARECEPTR
PR01723 GABAAREPSLON
PR00252 NRIONCHANNEL
SUPFAMiSSF63712 SSF63712, 1 hit
SSF90112 SSF90112, 2 hits
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: 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 → F1 PublicationCorresponds to variant dbSNP:rs17855708Ensembl.1
Natural variantiVAR_048175102S → A3 PublicationsCorresponds to variant dbSNP:rs1139916Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiGBRE_HUMAN
AccessioniPrimary (citable) accession number: P78334
Secondary accession number(s): E7ET93
, O15345, O15346, Q6PCD2, Q99520
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 21, 2001
Last modified: July 18, 2018
This is version 161 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 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

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