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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GABRR1
gamma-aminobutyric acid type A receptor subunit rho1
Chromosome 6 · 6q15
NCBI Gene: 2569Ensembl: ENSG00000146276.14HGNC: HGNC:4090UniProt: P24046
45PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GABA-A receptor complexplasma membranesynaptic transmission, GABAergicchloride transmembrane transportmusculoskeletal system diseasephototoxic dermatitiskeratoconjunctivitispreeclampsia
✦AI Summary

GABRR1 encodes the rho1 subunit of GABA-A receptors, which form pentameric ligand-gated chloride channels that mediate inhibitory neurotransmission 1. These rho-containing receptors are entirely composed of rho subunits and allow selective chloride flow across cell membranes when activated by GABA 1. GABRR1 is primarily expressed in retinal tissue, where it likely plays a role in retinal neurotransmission 2. The gene is located on chromosome 6-21, closely linked to GABRR2 34. Beyond the nervous system, GABRR1 shows functional expression in hematopoietic stem cells and megakaryocyte progenitors, where it promotes platelet production and megakaryocyte differentiation 5. Disease associations include alcohol dependence, with genetic variants in GABRR1 showing significant associations, particularly with earlier onset alcoholism 6. Additional clinical relevance includes associations with myopia through gene-environment interactions involving education levels 7, differential methylation patterns in tardive dyskinesia 8, diabetic nephropathy complications 9, and potential prognostic significance in hepatocellular carcinoma 10. These findings suggest GABRR1 has broader physiological roles beyond classical GABAergic neurotransmission.

Sources cited
1
GABRR1 encodes rho1 subunit forming pentameric GABA-gated chloride channels
PMID: 37659407
2
Primary expression in retina for retinal neurotransmission
PMID: 1849271
3
Gene location on chromosome 6q14-21 and linkage to GABRR2
PMID: 1315307
4
Detailed chromosomal mapping confirmation
PMID: 10542332
5
Expression and function in hematopoietic stem cells and platelet production
PMID: 31451629
6
Association with alcohol dependence, especially early onset
PMID: 19536785
7
Association with myopia through gene-environment interactions
PMID: 27020472
8
Differential methylation in tardive dyskinesia
PMID: 37414911
9
Association with diabetic nephropathy complications
PMID: 34609116
10
Potential prognostic biomarker in hepatocellular carcinoma
PMID: 31789422
Disease Associationsⓘ20
musculoskeletal system diseaseOpen Targets
0.28Weak
phototoxic dermatitisOpen Targets
0.27Weak
keratoconjunctivitisOpen Targets
0.24Weak
preeclampsiaOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.04Suggestive
lung carcinomaOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.02Suggestive
ocular hypotensionOpen Targets
0.02Suggestive
biliary tract diseaseOpen Targets
0.02Suggestive
corneal neovascularizationOpen Targets
0.02Suggestive
strokeOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
alcohol dependenceOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
essential thrombocythemiaOpen Targets
0.01Suggestive
migraine disorderOpen Targets
0.01Suggestive
AnxietyOpen Targets
0.01Suggestive
achalasia-alacrima syndromeOpen Targets
0.01Suggestive
colonic neoplasmOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GABRA1Protein interaction74%GABREProtein interaction74%GABRG2Protein interaction74%GABRR3Protein interaction72%GABRA2Protein interaction67%GABRA5Protein interaction64%
Tissue Expression6 tissues
Brain
100%
Ovary
67%
Lung
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GABRR1GABRA1GABREGABRG2GABRR3GABRA2GABRA5
PROTEIN STRUCTURE
Preparing viewer…
PDB9FRB · 2.05 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.94 [0.74–1.20]
RankingsWhere GABRR1 stands among ~20K protein-coding genes
  • #9,452of 20,598
    Most Researched45
  • #12,551of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedGABRR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
GABRR1 and GABRR2, encoding the GABA-A receptor subunits rho1 and rho2, are associated with alcohol dependence.
PMID: 19536785
Am J Med Genet B Neuropsychiatr Genet · 2010
1.00
2
The GABA receptor GABRR1 is expressed on and functional in hematopoietic stem cells and megakaryocyte progenitors.
PMID: 31451629
Proc Natl Acad Sci U S A · 2019
0.90
3
Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho2 cDNA and colocalization of the genes encoding rho2 (GABRR2) and rho1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4.
PMID: 1315307
Genomics · 1992
0.80
4
Genetic linkage and radiation hybrid mapping of the three human GABA(C) receptor rho subunit genes: GABRR1, GABRR2 and GABRR3.
PMID: 10542332
Biochim Biophys Acta · 1999
0.70
5
Genome-wide DNA methylation analysis in schizophrenia with tardive dyskinesia: a preliminary study.
PMID: 37414911
Genes Genomics · 2023
0.60