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P78334 (GBRE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 130. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-aminobutyric acid receptor subunit epsilon
Alternative name(s):
GABA(A) receptor subunit epsilon
Gene names
Name:GABRE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length506 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

Generally pentameric. Associates with alpha and beta subunits.

Subcellular location

Cell junctionsynapsepostsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Tissue specificity

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

Sequence similarities

Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRE sub-subfamily. [View classification]

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 506484Gamma-aminobutyric acid receptor subunit epsilon
PRO_0000000471

Regions

Topological domain23 – 253231Extracellular Probable
Transmembrane254 – 27421Helical; Potential
Transmembrane281 – 30121Helical; Potential
Transmembrane344 – 36421Helical; Potential
Topological domain365 – 485121Cytoplasmic Probable
Transmembrane486 – 50621Helical; Potential

Amino acid modifications

Glycosylation1341N-linked (GlcNAc...) Potential
Glycosylation2521N-linked (GlcNAc...) Potential
Disulfide bond195 ↔ 209 By similarity

Natural variations

Natural variant1021S → A. Ref.1 Ref.3
Corresponds to variant rs1139916 [ dbSNP | Ensembl ].
VAR_048175

Experimental info

Sequence conflict2451F → L in CAA70903. Ref.2
Sequence conflict2611Missing in CAA68914. Ref.3
Sequence conflict4711G → A in CAA70903. Ref.2
Sequence conflict5021V → F in CAA70903. Ref.2

Sequences

Sequence LengthMass (Da)Tools
P78334 [UniParc].

Last modified February 21, 2001. Version 2.
Checksum: 013EE136EECFCC73

FASTA50657,972
        10         20         30         40         50         60 
MLSKVLPVLL GILLILQSRV EGPQTESKNE ASSRDVVYGP QPQPLENQLL SEETKSTETE 

        70         80         90        100        110        120 
TGSRVGKLPE ASRILNTILS NYDHKLRPGI GEKPTVVTVE ISVNSLGPLS ILDMEYTIDI 

       130        140        150        160        170        180 
IFSQTWYDER LCYNDTFESL VLNGNVVSQL WIPDTFFRNS KRTHEHEITM PNQMVRIYKD 

       190        200        210        220        230        240 
GKVLYTIRMT IDAGCSLHML RFPMDSHSCP LSFSSFSYPE NEMIYKWENF KLEINEKNSW 

       250        260        270        280        290        300 
KLFQFDFTGV SNKTEIITTP VGDFMVMTIF FNVSRRFGYV AFQNYVPSSV TTMLSWVSFW 

       310        320        330        340        350        360 
IKTESAPART SLGITSVLTM TTLGTFSRKN FPRVSYITAL DFYIAICFVF CFCALLEFAV 

       370        380        390        400        410        420 
LNFLIYNQTK AHASPKLRHP RINSRAHART RARSRACARQ HQEAFVCQIV TTEGSDGEER 

       430        440        450        460        470        480 
PSCSAQQPPS PGSPEGPRSL CSKLACCEWC KRFKKYFCMV PDCEGSTWQQ GRLCIHVYRL 

       490        500 
DNYSRVVFPV TFFFFNVLYW LVCLNL 

« Hide

References

[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], 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].
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], 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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_004952.2. NM_004961.3.
UniGeneHs.22785.

3D structure databases

ProteinModelPortalP78334.
SMRP78334. Positions 71-505.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000359353.

Chemistry

BindingDBP78334.
ChEMBLCHEMBL2093872.
GuidetoPHARMACOLOGY417.

PTM databases

PhosphoSiteP78334.

Polymorphism databases

DMDM13124728.

Proteomic databases

PaxDbP78334.
PRIDEP78334.

Protocols and materials databases

DNASU2564.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000370328; ENSP00000359353; ENSG00000102287.
GeneID2564.
KEGGhsa:2564.
UCSCuc004ffi.3. human.

Organism-specific databases

CTD2564.
GeneCardsGC0XM151121.
HGNCHGNC:4085. GABRE.
HPAHPA045918.
MIM300093. gene.
neXtProtNX_P78334.
PharmGKBPA28499.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259781.
HOGENOMHOG000231337.
HOVERGENHBG051707.
InParanoidP78334.
KOK05185.
OMALYTIRMT.
OrthoDBEOG7JX342.
PhylomeDBP78334.
TreeFamTF315453.

Gene expression databases

ArrayExpressP78334.
BgeeP78334.
CleanExHS_GABRE.
GenevestigatorP78334.

Family and domain databases

Gene3D2.70.170.10. 1 hit.
InterProIPR006028. GABAA_rcpt.
IPR008099. GABAAe_rcpt.
IPR006202. Neur_chan_lig-bd.
IPR006201. Neur_channel.
IPR006029. Neurotrans-gated_channel_TM.
IPR018000. Neurotransmitter_ion_chnl_CS.
[Graphical view]
PANTHERPTHR18945. PTHR18945. 1 hit.
PfamPF02931. Neur_chan_LBD. 1 hit.
PF02932. Neur_chan_memb. 1 hit.
[Graphical view]
PRINTSPR00253. GABAARECEPTR.
PR01723. GABAAREPSLON.
PR00252. NRIONCHANNEL.
SUPFAMSSF63712. SSF63712. 1 hit.
SSF90112. SSF90112. 2 hits.
TIGRFAMsTIGR00860. LIC. 1 hit.
PROSITEPS00236. NEUROTR_ION_CHANNEL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSGABRE. human.
GeneWikiGABRE.
GenomeRNAi2564.
NextBio10131.
PROP78334.
SOURCESearch...

Entry information

Entry nameGBRE_HUMAN
AccessionPrimary (citable) accession number: P78334
Secondary accession number(s): O15345, O15346, Q99520
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 21, 2001
Last modified: April 16, 2014
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM