Human Gene GABRE (ENST00000370328.4) from GENCODE V44
  Description: Homo sapiens gamma-aminobutyric acid type A receptor subunit epsilon (GABRE), mRNA. (from RefSeq NM_004961)
RefSeq Summary (NM_004961): The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008].
Gencode Transcript: ENST00000370328.4
Gencode Gene: ENSG00000102287.19
Transcript (Including UTRs)
   Position: hg38 chrX:151,953,124-151,974,676 Size: 21,553 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg38 chrX:151,954,701-151,974,625 Size: 19,925 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:151,953,124-151,974,676)mRNA (may differ from genome)Protein (506 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GBRE_HUMAN
DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit epsilon; AltName: Full=GABA(A) receptor subunit epsilon; Flags: Precursor;
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: 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.
SIMILARITY: 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.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GABRE
Diseases sorted by gene-association score: glycogen storage disease ia (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 42.30 RPKM in Vagina
Total median expression: 524.45 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.6051-0.482 Picture PostScript Text
3' UTR -487.001577-0.309 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006028 - GABAA_rcpt
IPR008099 - GABAAe_rcpt
IPR006202 - Neur_chan_lig-bd
IPR006201 - Neur_channel
IPR006029 - Neurotrans-gated_channel_TM
IPR018000 - Neurotransmitter_ion_chnl_CS

Pfam Domains:
PF02931 - Neurotransmitter-gated ion-channel ligand binding domain
PF02932 - Neurotransmitter-gated ion-channel transmembrane region

ModBase Predicted Comparative 3D Structure on P78334
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0004890 GABA-A receptor activity
GO:0005216 ion channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0005254 chloride channel activity
GO:0022851 GABA-gated chloride ion channel activity

Biological Process:
GO:0006811 ion transport
GO:0006821 chloride transport
GO:0007165 signal transduction
GO:0034220 ion transmembrane transport
GO:1902476 chloride transmembrane transport
GO:2001226 negative regulation of chloride transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0034707 chloride channel complex
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1902711 GABA-A receptor complex


-  Descriptions from all associated GenBank mRNAs
  U66661 - Human GABA-A receptor epsilon subunit mRNA, complete cds.
BC026337 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon, mRNA (cDNA clone MGC:26504 IMAGE:4798754), complete cds.
BC047108 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon, mRNA (cDNA clone MGC:48298 IMAGE:5312742), complete cds.
BC059376 - Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon, mRNA (cDNA clone MGC:71624 IMAGE:4799619), complete cds.
Y07637 - H.sapiens mRNA for putative GABA-gated chloride channel.
Y09765 - Homo sapiens mRNA for putative GABA receptor epsilon subunit.
U92285 - Human GABA-A receptor epsilon subunit (GABRE) RNA, alternative transcript.
JD438621 - Sequence 419645 from Patent EP1572962.
JD050917 - Sequence 31941 from Patent EP1572962.
JD096188 - Sequence 77212 from Patent EP1572962.
JD392556 - Sequence 373580 from Patent EP1572962.
JD350854 - Sequence 331878 from Patent EP1572962.
JD325312 - Sequence 306336 from Patent EP1572962.
JD076182 - Sequence 57206 from Patent EP1572962.
JD164822 - Sequence 145846 from Patent EP1572962.
JD055656 - Sequence 36680 from Patent EP1572962.
JD353983 - Sequence 335007 from Patent EP1572962.
JD149882 - Sequence 130906 from Patent EP1572962.
JD438575 - Sequence 419599 from Patent EP1572962.
JD376651 - Sequence 357675 from Patent EP1572962.
JD162130 - Sequence 143154 from Patent EP1572962.
JD099463 - Sequence 80487 from Patent EP1572962.
JD537692 - Sequence 518716 from Patent EP1572962.
JD537701 - Sequence 518725 from Patent EP1572962.
JD076392 - Sequence 57416 from Patent EP1572962.
JD081017 - Sequence 62041 from Patent EP1572962.
AK303072 - Homo sapiens cDNA FLJ57243 complete cds, highly similar to Gamma-aminobutyric-acid receptor epsilon subunit precursor.
JD111638 - Sequence 92662 from Patent EP1572962.
JD396746 - Sequence 377770 from Patent EP1572962.
JD339760 - Sequence 320784 from Patent EP1572962.
JD284882 - Sequence 265906 from Patent EP1572962.
JD559430 - Sequence 540454 from Patent EP1572962.
JD565255 - Sequence 546279 from Patent EP1572962.
JD082113 - Sequence 63137 from Patent EP1572962.
JD446484 - Sequence 427508 from Patent EP1572962.
JD426868 - Sequence 407892 from Patent EP1572962.
JD060605 - Sequence 41629 from Patent EP1572962.
HQ448560 - Synthetic construct Homo sapiens clone IMAGE:100071996; CCSB010957_03 gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE) gene, encodes complete protein.
KJ901439 - Synthetic construct Homo sapiens clone ccsbBroadEn_10833 GABRE gene, encodes complete protein.
AK299174 - Homo sapiens cDNA FLJ60826 complete cds, weakly similar to Gamma-aminobutyric-acid receptor epsilon subunit precursor.
CU691356 - Synthetic construct Homo sapiens gateway clone IMAGE:100021078 5' read GABRE mRNA.
AF086385 - Homo sapiens full length insert cDNA clone ZD71B07.
JD231701 - Sequence 212725 from Patent EP1572962.
JD393165 - Sequence 374189 from Patent EP1572962.
AK124085 - Homo sapiens cDNA FLJ42091 fis, clone TESOP2001901.
JD254528 - Sequence 235552 from Patent EP1572962.
JD491621 - Sequence 472645 from Patent EP1572962.
JD228118 - Sequence 209142 from Patent EP1572962.
JD547859 - Sequence 528883 from Patent EP1572962.
JD550667 - Sequence 531691 from Patent EP1572962.
JD396748 - Sequence 377772 from Patent EP1572962.
JD163405 - Sequence 144429 from Patent EP1572962.
JD379822 - Sequence 360846 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000370328.1, ENST00000370328.2, ENST00000370328.3, GBRE_HUMAN, NM_004961, O15345, O15346, P78334, Q99520, uc004ffi.1, uc004ffi.2, uc004ffi.3, uc004ffi.4
UCSC ID: ENST00000370328.4
RefSeq Accession: NM_004961
Protein: P78334 (aka GBRE_HUMAN or GAE_HUMAN)
CCDS: CCDS14703.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.