GABRA3
Gamma-aminobutyric acid receptor subunit alpha-3
Also known as: GBRA3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P34903
- Gene
- GABRA3
- Ensembl
- ENSG00000011677
- Chromosome
- X
- Canonical length
- 492 aa
- Protein class
- FDA approved drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Plasma membrane
OverviewNCBI Gene
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
492 residues, UniProt reviewed canonical sequence.
>P34903|GABRA3
1 MIITQTSHCY MTSLGILFLI NILPGTTGQG ESRRQEPGDF VKQDIGGLSP KHAPDIPDDS
61 TDNITIFTRI LDRLLDGYDN RLRPGLGDAV TEVKTDIYVT SFGPVSDTDM EYTIDVFFRQ
121 TWHDERLKFD GPMKILPLNN LLASKIWTPD TFFHNGKKSV AHNMTTPNKL LRLVDNGTLL
181 YTMRLTIHAE CPMHLEDFPM DVHACPLKFG SYAYTTAEVV YSWTLGKNKS VEVAQDGSRL
241 NQYDLLGHVV GTEIIRSSTG EYVVMTTHFH LKRKIGYFVI QTYLPCIMTV ILSQVSFWLN
301 RESVPARTVF GVTTVLTMTT LSISARNSLP KVAYATAMDW FIAVCYAFVF SALIEFATVN
361 YFTKRSWAWE GKKVPEALEM KKKTPAAPAK KTSTTFNIVG TTYPINLAKD TEFSTISKGA
421 APSASSTPTI IASPKATYVQ DSPTETKTYN SVSKVDKISR IIFPVLFAIF NLVYWATYVN
481 RESAIKGMIR KQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GABRA3 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)
- 0.4
- Highest tissue expression
- 32 nTPM
Expression across tissuesHPA
Tissue
- choroid plexus: 32 nTPM
- cerebral cortex: 16 nTPM
- hypothalamus: 14 nTPM
- hippocampal formation: 8.7 nTPM
- retina: 8.3 nTPM
- amygdala: 6.8 nTPM
Single-cell type
- choroid plexus epithelial cells: 224 nCPM
- hofbauer cells: 98 nCPM
- oligodendrocyte progenitor cells: 74 nCPM
- other brain neurons: 62 nCPM
- retinal amacrine cells: 57 nCPM
- brain excitatory neurons: 55 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
- choroid plexus: 52 nTPM
- hypothalamus: 49 nTPM
- cerebral cortex: 44 nTPM
- basal ganglia: 42 nTPM
- hippocampal formation: 29 nTPM
- midbrain: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GABRA3.
Disease | AllUniProt
Conditions GABRA3 is implicated in, by any mechanism.
- Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (EPILX2) MIM:301091
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 108 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features
- Inborn genetic diseases
Disease | ImmuneIEDB
Conditions an epitope on GABRA3 was assayed in.
- human immunodeficiency virus infectious disease T cell
- narcolepsy B cell
- multiple sclerosis B cell
- peripheral nervous system disease B cell
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)
- 0.7
- gnomAD pLI
- 0.04
- gnomAD missense Z
- 2.53
- DepMap mean gene effect
- 0.25
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chloride transmembrane transport
- gamma-aminobutyric acid signaling pathway
- inhibitory synapse assembly
- synaptic transmission, GABAergic
Molecular functions
- benzodiazepine receptor activity
- GABA-A receptor activity
- GABA-gated chloride ion channel activity
- transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gamma-aminobutyric-acid A receptor, alpha subunit
- 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
- Gamma-aminobutyric acid receptor subunit alpha 1-6, transmembrane domain
- Neurotransmitter-gated ion-channel ligand binding domain
- Neurotransmitter-gated ion-channel transmembrane region
- Gamma-aminobutyric-acid A receptor, alpha 3 subunit
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GABRA3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GABRA3 as an antibody target. Whether an autoantibody or antibody against GABRA3 could matter depends on whether native GABRA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GABRA3 is annotated at the cell surface, where native GABRA3 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 GABRA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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