GABRR1
Gamma-aminobutyric acid receptor subunit rho-1
Also known as: GBRR1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P24046
- Gene
- GABRR1
- Ensembl
- ENSG00000146276
- Chromosome
- 6
- Canonical length
- 479 aa
- Protein class
- Predicted membrane proteins, Transporters
- Quaternary structure
- Homopentamer
OverviewNCBI Gene
GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. GABRR1 is a member of the rho subunit family. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Canonical amino-acid sequenceUniProt
479 residues, UniProt reviewed canonical sequence.
>P24046|GABRR1
1 MLAVPNMRFG IFLLWWGWVL ATESRMHWPG REVHEMSKKG RPQRQRREVH EDAHKQVSPI
61 LRRSPDITKS PLTKSEQLLR IDDHDFSMRP GFGGPAIPVG VDVQVESLDS ISEVDMDFTM
121 TLYLRHYWKD ERLSFPSTNN LSMTFDGRLV KKIWVPDMFF VHSKRSFIHD TTTDNVMLRV
181 QPDGKVLYSL RVTVTAMCNM DFSRFPLDTQ TCSLEIESYA YTEDDLMLYW KKGNDSLKTD
241 ERISLSQFLI QEFHTTTKLA FYSSTGWYNR LYINFTLRRH IFFFLLQTYF PATLMVMLSW
301 VSFWIDRRAV PARVPLGITT VLTMSTIITG VNASMPRVSY IKAVDIYLWV SFVFVFLSVL
361 EYAAVNYLTT VQERKEQKLR EKLPCTSGLP PPRTAMLDGN YSDGEVNDLD NYMPENGEKP
421 DRMMVQLTLA SERSSPQRKS QRSSYVSMRI DTHAIDKYSR IIFPAAYILF NLIYWSIFSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GABRR1 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)
- 0.42
- Highest tissue expression
- 23 nTPM
Expression across tissuesHPA
Tissue
- retina: 23 nTPM
- blood vessel: 1.4 nTPM
- testis: 0.9 nTPM
- placenta: 0.2 nTPM
- choroid plexus: 0.1 nTPM
- esophagus: 0.1 nTPM
Single-cell type
- retinal bipolar cells: 189 nCPM
- undifferentiated spermatogonia: 9 nCPM
- early spermatids: 6.7 nCPM
- cone photoreceptor cells: 6.2 nCPM
- bergmann glia: 3.3 nCPM
- rod photoreceptor cells: 3 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: 0.8 nTPM
- cerebral cortex: 0.6 nTPM
- amygdala: 0.4 nTPM
- choroid plexus: 0.4 nTPM
- hippocampal formation: 0.4 nTPM
- thalamus: 0.4 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)
- 1.25
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.73
- DepMap mean gene effect
- 0.04
- 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
- chemical synaptic transmission
- chloride transmembrane transport
- gamma-aminobutyric acid signaling pathway
- modulation of chemical synaptic transmission
- synaptic transmission, GABAergic
Molecular functions
- GABA-A receptor activity
- GABA-gated chloride ion channel activity
- identical protein binding
- ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential
- protein domain specific binding
- protein-containing complex binding
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
- Gamma-aminobutyric-acid A receptor, Rho
- 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, Rho1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GABRR1 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 GABRR1 as an antibody target. Whether an autoantibody or antibody against GABRR1 could matter depends on whether native GABRR1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GABRR1 is annotated at the cell surface, where native GABRR1 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 GABRR1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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