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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

  1. chloride channel activity Source: UniProtKB-KW
  2. extracellular ligand-gated ion channel activity Source: InterPro
  3. GABA-A receptor activity Source: ProtInc

GO - Biological processi

  1. gamma-aminobutyric acid signaling pathway Source: ProtInc
  2. transport Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Chloride

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
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:4085. GABRE.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini23 – 253231ExtracellularCuratedAdd
BLAST
Transmembranei254 – 27421HelicalSequence AnalysisAdd
BLAST
Transmembranei281 – 30121HelicalSequence AnalysisAdd
BLAST
Transmembranei344 – 36421HelicalSequence AnalysisAdd
BLAST
Topological domaini365 – 485121CytoplasmicCuratedAdd
BLAST
Transmembranei486 – 50621HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell junction Source: UniProtKB-KW
  2. chloride channel complex Source: UniProtKB-KW
  3. integral component of plasma membrane Source: ProtInc
  4. 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

PharmGKBiPA28499.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Sequence AnalysisAdd
BLAST
Chaini23 – 506484Gamma-aminobutyric acid receptor subunit epsilonPRO_0000000471Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi134 – 1341N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi195 ↔ 209By similarity
Glycosylationi252 – 2521N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP78334.
PRIDEiP78334.

PTM databases

PhosphoSiteiP78334.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiP78334.
CleanExiHS_GABRE.
ExpressionAtlasiP78334. baseline and differential.
GenevestigatoriP78334.

Organism-specific databases

HPAiHPA045918.

Interactioni

Subunit structurei

Generally pentameric. Associates with alpha and beta subunits.

Protein-protein interaction databases

BioGridi108838. 41 interactions.
STRINGi9606.ENSP00000359353.

Structurei

3D structure databases

ProteinModelPortaliP78334.
SMRiP78334. Positions 75-382.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG259781.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP78334.
KOiK05185.
OMAiLYTIRMT.
OrthoDBiEOG7JX342.
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. 1 hit.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti245 – 2451F → L in CAA70903. (PubMed:9339354)Curated
Sequence conflicti261 – 2611Missing in CAA68914. (PubMed:9084408)Curated
Sequence conflicti471 – 4711G → A in CAA70903. (PubMed:9339354)Curated
Sequence conflicti502 – 5021V → F in CAA70903. (PubMed:9339354)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91L → F.1 Publication
Corresponds to variant rs17855708 [ dbSNP | Ensembl ].
VAR_071089
Natural varianti102 – 1021S → A.3 Publications
Corresponds to variant rs1139916 [ dbSNP | Ensembl ].
VAR_048175

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei365 – 3651I → M in isoform 2. 1 PublicationVSP_055776
Alternative sequencei366 – 506141Missing in isoform 2. 1 PublicationVSP_055777Add
BLAST

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]

Polymorphism databases

DMDMi13124728.

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. Positions 75-382.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108838. 41 interactions.
STRINGi9606.ENSP00000359353.

Chemistry

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.
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.
GuidetoPHARMACOLOGYi417.

PTM databases

PhosphoSiteiP78334.

Polymorphism databases

DMDMi13124728.

Proteomic databases

PaxDbiP78334.
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.
GeneCardsiGC0XM151121.
HGNCiHGNC:4085. GABRE.
HPAiHPA045918.
MIMi300093. gene.
neXtProtiNX_P78334.
PharmGKBiPA28499.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG259781.
GeneTreeiENSGT00760000119010.
HOGENOMiHOG000231337.
HOVERGENiHBG051707.
InParanoidiP78334.
KOiK05185.
OMAiLYTIRMT.
OrthoDBiEOG7JX342.
PhylomeDBiP78334.
TreeFamiTF315453.

Miscellaneous databases

ChiTaRSiGABRE. human.
GeneWikiiGABRE.
GenomeRNAii2564.
NextBioi10131.
PROiP78334.
SOURCEiSearch...

Gene expression databases

BgeeiP78334.
CleanExiHS_GABRE.
ExpressionAtlasiP78334. baseline and differential.
GenevestigatoriP78334.

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. 1 hit.
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...

Publicationsi

« Hide 'large scale' publications
  1. "Insensitivity to anaesthetic agents conferred by a class of GABA(A) receptor subunit."
    Davies P.A., Hanna M.C., Hales T.G., Kirkness E.F.
    Nature 385:820-823(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-102.
  2. "A gene in human chromosome band Xq28 (GABRE) defines a putative new subunit class of the GABAA neurotransmitter receptor."
    Wilke K., Gaul R., Klauck S.M., Poustka A.
    Genomics 45:1-10(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    Tissue: Brain.
  3. "An mRNA encoding a putative GABA-gated chloride channel is expressed in the human cardiac conduction system."
    Garret M., Bascles L., Boue-Grabot E., Sartor P., Charron G., Bloch B., Margolskee R.F.
    J. Neurochem. 68:1382-1389(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-102.
  4. "Alternative transcripts of a gene encoding the GABA-A receptor epsilon subunit on chromosome Xq28."
    Hanna M.C., Hales T.G., Kirkness E.F.
    Submitted (JAN-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  5. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS PHE-9 AND ALA-102.
    Tissue: Brain.

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: January 7, 2015
This is version 138 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

External Data

Dasty 3

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 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.