Gamma-aminobutyric acid receptor subunit epsilon precursor

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P78334 (GBRE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 121. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Gamma-aminobutyric acid receptor subunit epsilon

Alternative name(s):
GABA(A) receptor subunit epsilon

Gene names

Name:

GABRE

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	506 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 junction › synapse › postsynaptic 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]

Ontologies

Keywords
Biological process	Ion transport Transport
Cellular component	Cell junction Cell membrane Membrane Postsynaptic cell membrane Synapse
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Chloride
Molecular function	Chloride channel Ion channel
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	gamma-aminobutyric acid signaling pathway Traceable author statement Ref.1. Source: ProtInc transport Traceable author statement Ref.1. Source: ProtInc
Cellular_component	cell junction Inferred from electronic annotation. Source: UniProtKB-KW chloride channel complex Inferred from electronic annotation. Source: UniProtKB-KW integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc postsynaptic membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	GABA-A receptor activity Traceable author statement Ref.1. Source: ProtInc chloride channel activity Inferred from electronic annotation. Source: UniProtKB-KW extracellular ligand-gated ion channel activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 22

Potential

Chain

23 – 506

484

Gamma-aminobutyric acid receptor subunit epsilon

PRO_0000000471

Regions

Topological domain

23 – 253

231

Extracellular Probable

Transmembrane

254 – 274

Helical; Potential

Transmembrane

281 – 301

Helical; Potential

Transmembrane

344 – 364

Helical; Potential

Topological domain

365 – 485

121

Cytoplasmic Probable

Transmembrane

486 – 506

Helical; Potential

Amino acid modifications

Glycosylation

134

N-linked (GlcNAc...) Potential

Glycosylation

252

N-linked (GlcNAc...) Potential

Disulfide bond

195 ↔ 209

By similarity

Natural variations

Natural variant

102

S → A. Ref.1 Ref.3
Corresponds to variant rs1139916 [ dbSNP | Ensembl ].

VAR_048175

Experimental info

Sequence conflict

245

F → L in CAA70903. Ref.2

Sequence conflict

261

Missing in CAA68914. Ref.3

Sequence conflict

471

G → A in CAA70903. Ref.2

Sequence conflict

502

V → F in CAA70903. Ref.2

Sequences

Sequence

Length

Mass (Da)

Tools

P78334 [UniParc].

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

FASTA

506

57,972

        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.
IPI	IPI00297725.
RefSeq	NP_004952.2. NM_004961.3.
UniGene	Hs.22785.
3D structure databases
ProteinModelPortal	P78334.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000359353.
PTM databases
PhosphoSite	P78334.
Polymorphism databases
DMDM	13124728.
Proteomic databases
PaxDb	P78334.
PRIDE	P78334.
Protocols and materials databases
DNASU	2564.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370328; ENSP00000359353; ENSG00000102287.
GeneID	2564.
KEGG	hsa:2564.
UCSC	uc004ffi.3. human.
Organism-specific databases
CTD	2564.
GeneCards	GC0XM151121.
HGNC	HGNC:4085. GABRE.
HPA	HPA045918.
MIM	300093. gene.
neXtProt	NX_P78334.
PharmGKB	PA28499.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG259781.
HOGENOM	HOG000231337.
HOVERGEN	HBG051707.
InParanoid	P78334.
KO	K05185.
OMA	LYTIRMT.
OrthoDB	EOG4J9MZV.
PhylomeDB	P78334.
Gene expression databases
ArrayExpress	P78334.
Bgee	P78334.
CleanEx	HS_GABRE.
Genevestigator	P78334.
GermOnline	ENSG00000102287. Homo sapiens.
Family and domain databases
Gene3D	2.70.170.10. 1 hit.
InterPro	IPR006028. 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]
PANTHER	PTHR18945. PTHR18945. 1 hit.
Pfam	PF02931. Neur_chan_LBD. 1 hit. PF02932. Neur_chan_memb. 1 hit. [Graphical view]
PRINTS	PR00253. GABAARECEPTR. PR01723. GABAAREPSLON. PR00252. NRIONCHANNEL.
SUPFAM	SSF90112. Neu_channel_TM. 1 hit. SSF63712. Neur_chan_LBD. 1 hit.
TIGRFAMs	TIGR00860. LIC. 1 hit.
PROSITE	PS00236. NEUROTR_ION_CHANNEL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P78334.
ChEMBL	CHEMBL4635.
ChiTaRS	GABRE. human.
GenomeRNAi	2564.
NextBio	10131.
SOURCE	Search...

Entry information

Entry name

GBRE_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 121 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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

Human chromosome X

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents