GABRQ
Gamma-aminobutyric acid receptor subunit theta
Also known as: GBRT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UN88
- Gene
- GABRQ
- Ensembl
- ENSG00000268089
- Chromosome
- X
- Canonical length
- 632 aa
- Protein class
- FDA approved drug targets, Predicted membrane proteins
OverviewNCBI Gene
The gamma-aminobutyric acid (GABA) A receptor is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes the theta subunit of the GABA A receptor. The gene is mapped to chromosome Xq28 in a cluster of genes including those that encode the alpha 3 and epsilon subunits of the GABA A receptor. [provided by RefSeq, Jul 2017]
Canonical amino-acid sequenceUniProt
632 residues, UniProt reviewed canonical sequence.
>Q9UN88|GABRQ
1 MGIRGMLRAA VILLLIRTWL AEGNYPSPIP KFHFEFSSAV PEVVLNLFNC KNCANEAVVQ
61 KILDRVLSRY DVRLRPNFGG APVPVRISIY VTSIEQISEM NMDYTITMFF HQTWKDSRLA
121 YYETTLNLTL DYRMHEKLWV PDCYFLNSKD AFVHDVTVEN RVFQLHPDGT VRYGIRLTTT
181 AACSLDLHKF PMDKQACNLV VESYGYTVED IILFWDDNGN AIHMTEELHI PQFTFLGRTI
241 TSKEVYFYTG SYIRLILKFQ VQREVNSYLV QVYWPTVLTT ITSWISFWMN YDSSAARVTI
301 GLTSMLILTT IDSHLRDKLP NISCIKAIDI YILVCLFFVF LSLLEYVYIN YLFYSRGPRR
361 QPRRHRRPRR VIARYRYQQV VVGNVQDGLI NVEDGVSSLP ITPAQAPLAS PESLGSLTST
421 SEQAQLATSE SLSPLTSLSG QAPLATGESL SDLPSTSEQA RHSYGVRFNG FQADDSIIPT
481 EIRNRVEAHG HGVTHDHEDS NESLSSDERH GHGPSGKPML HHGEKGVQEA GWDLDDNNDK
541 SDCLAIKEQF KCDTNSTWGL NDDELMAHGQ EKDSSSESED SCPPSPGCSF TEGFSFDLFN
601 PDYVPKVDKW SRFLFPLAFG LFNIVYWVYH MYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GABRQ can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.47
- Highest tissue expression
- 21 nTPM
Expression across tissuesHPA
Tissue
- hypothalamus: 21 nTPM
- cervix: 7.2 nTPM
- hippocampal formation: 6.6 nTPM
- cerebral cortex: 3.5 nTPM
- amygdala: 3.4 nTPM
- basal ganglia: 2.6 nTPM
Single-cell type
- other brain neurons: 24 nCPM
- adrenal medulla cells: 11 nCPM
- retinal amacrine cells: 10 nCPM
- brain excitatory neurons: 7.9 nCPM
- brain inhibitory neurons: 6.2 nCPM
- basal keratinocytes: 5.9 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- hypothalamus: 154 nTPM
- cerebral cortex: 61 nTPM
- midbrain: 59 nTPM
- basal ganglia: 52 nTPM
- pons: 48 nTPM
- hippocampal formation: 37 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.74
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.58
- DepMap mean gene effect
- 0.07
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- GABA-A receptor activity
- GABA-gated chloride ion channel activity
- neurotransmitter transmembrane transporter activity
- transmembrane signaling receptor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gamma-aminobutyric acid A receptor/Glycine receptor alpha
- Neurotransmitter-gated ion-channel transmembrane domain
- Neurotransmitter-gated ion-channel
- Neurotransmitter-gated ion-channel ligand-binding domain
- Neurotransmitter-gated ion-channel, conserved site
- Neurotransmitter-gated ion-channel transmembrane domain superfamily
- Neurotransmitter-gated ion-channel ligand-binding domain superfamily
- Neuronal acetylcholine receptor
- Neurotransmitter-gated ion-channel ligand binding domain
- Neurotransmitter-gated ion-channel transmembrane region
- Gamma-aminobutyric-acid A receptor theta subunit
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GABRQ as an antibody target. Whether an autoantibody or antibody against GABRQ could matter depends on whether native GABRQ is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GABRQ is annotated at the cell surface, where native GABRQ is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GABRQ as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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