GABRA6
Gamma-aminobutyric acid receptor subunit alpha-6
Also known as: GBRA6_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q16445
- Gene
- GABRA6
- Ensembl
- ENSG00000145863
- Chromosome
- 5
- Canonical length
- 453 aa
- Protein class
- FDA approved drug targets, Predicted intracellular proteins, Predicted membrane proteins
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
453 residues, UniProt reviewed canonical sequence.
>Q16445|GABRA6
1 MASSLPWLCI ILWLENALGK LEVEGNFYSE NVSRILDNLL EGYDNRLRPG FGGAVTEVKT
61 DIYVTSFGPV SDVEMEYTMD VFFRQTWTDE RLKFGGPTEI LSLNNLMVSK IWTPDTFFRN
121 GKKSIAHNMT TPNKLFRIMQ NGTILYTMRL TINADCPMRL VNFPMDGHAC PLKFGSYAYP
181 KSEIIYTWKK GPLYSVEVPE ESSSLLQYDL IGQTVSSETI KSNTGEYVIM TVYFHLQRKM
241 GYFMIQIYTP CIMTVILSQV SFWINKESVP ARTVFGITTV LTMTTLSISA RHSLPKVSYA
301 TAMDWFIAVC FAFVFSALIE FAAVNYFTNL QTQKAKRKAQ FAAPPTVTIS KATEPLEAEI
361 VLHPDSKYHL KKRITSLSLP IVSSSEANKV LTRAPILQST PVTPPPLSPA FGGTSKIDQY
421 SRILFPVAFA GFNLVYWVVY LSKDTMEVSS SVELocalizationUniProt · AlphaFold · HPA
Whether an antibody against GABRA6 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)
- 0.37
- Highest tissue expression
- 186 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 186 nTPM
- spinal cord: 2.7 nTPM
- basal ganglia: 0.7 nTPM
- choroid plexus: 0.7 nTPM
- cerebral cortex: 0.5 nTPM
- testis: 0.5 nTPM
Single-cell type
- brain excitatory neurons: 88 nCPM
- epicardial cells: 27 nCPM
- brain inhibitory neurons: 26 nCPM
- sertoli cells: 24 nCPM
- other brain neurons: 6.6 nCPM
- bergmann glia: 4.9 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
- cerebellum: 150 nTPM
- pons: 11 nTPM
- cerebral cortex: 6.1 nTPM
- white matter: 5 nTPM
- midbrain: 3.2 nTPM
- spinal cord: 1.2 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)
- 1.38
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.41
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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
- signal transduction
- 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
- chloride channel complex
- dendrite membrane
- GABA-A receptor complex
- plasma membrane
- postsynapse
- postsynaptic specialization membrane
- cerebellar Golgi cell to granule cell synapse
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 6 subunit
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GABRA6 as an antibody target. Whether an autoantibody or antibody against GABRA6 could matter depends on whether native GABRA6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GABRA6 is annotated at the cell surface, where native GABRA6 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 GABRA6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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