GABRG1
Gamma-aminobutyric acid receptor subunit gamma-1
Also known as: GBRG1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N1C3
- Gene
- GABRG1
- Ensembl
- ENSG00000163285
- Chromosome
- 4
- Canonical length
- 465 aa
- Protein class
- FDA approved drug targets, Predicted membrane proteins
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
465 residues, UniProt reviewed canonical sequence.
>Q8N1C3|GABRG1
1 MGPLKAFLFS PFLLRSQSRG VRLVFLLLTL HLGNCVDKAD DEDDEDLTVN KTWVLAPKIH
61 EGDITQILNS LLQGYDNKLR PDIGVRPTVI ETDVYVNSIG PVDPINMEYT IDIIFAQTWF
121 DSRLKFNSTM KVLMLNSNMV GKIWIPDTFF RNSRKSDAHW ITTPNRLLRI WNDGRVLYTL
181 RLTINAECYL QLHNFPMDEH SCPLEFSSYG YPKNEIEYKW KKPSVEVADP KYWRLYQFAF
241 VGLRNSTEIT HTISGDYVIM TIFFDLSRRM GYFTIQTYIP CILTVVLSWV SFWINKDAVP
301 ARTSLGITTV LTMTTLSTIA RKSLPKVSYV TAMDLFVSVC FIFVFAALME YGTLHYFTSN
361 QKGKTATKDR KLKNKASMTP GLHPGSTLIP MNNISVPQED DYGYQCLEGK DCASFFCCFE
421 DCRTGSWREG RIHIRIAKID SYSRIFFPTA FALFNLVYWV GYLYLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GABRG1 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
- 21 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 21 nTPM
- amygdala: 18 nTPM
- cerebral cortex: 17 nTPM
- hypothalamus: 16 nTPM
- midbrain: 12 nTPM
- hippocampal formation: 11 nTPM
Single-cell type
- ependymal cells: 383 nCPM
- bergmann glia: 276 nCPM
- astrocytes: 158 nCPM
- retinal amacrine cells: 88 nCPM
- other brain neurons: 78 nCPM
- epididymal efferent duct ciliated cells: 38 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: 79 nTPM
- midbrain: 68 nTPM
- medulla oblongata: 38 nTPM
- thalamus: 37 nTPM
- white matter: 32 nTPM
- amygdala: 30 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)
- 0.81
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.52
- DepMap mean gene effect
- 0.14
- 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
- synaptic transmission, GABAergic
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Gamma-aminobutyric acid receptor subunit gamma-1/4
- 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, gamma 1 subunit
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GABRG1 as an antibody target. Whether an autoantibody or antibody against GABRG1 could matter depends on whether native GABRG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GABRG1 is annotated at the cell surface, where native GABRG1 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 GABRG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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