Alternative titles; symbols
HGNC Approved Gene Symbol: GABRR1
Cytogenetic location: 6q15 Genomic coordinates (GRCh38): 6:89,177,504-89,231,288 (from NCBI)
GABRR1 is a member of a family of ligand-gated chloride channels that are the major inhibitory neurotransmitter receptors in the central nervous system (Cutting et al., 1991).
Cutting et al. (1991) isolated a full-length GABRR1 cDNA, which they called gamma-aminobutyric acid receptor rho-1, from a human retina cDNA library. The cDNA predicted a mature 458-amino acid protein with 30 to 38% sequence similarity to previously identified GABA-A receptors (see 137160). Northern blot analysis detected the GABRR1 transcript predominantly in retina, but also in brain, lung, and thymus.
By polymerase chain reaction (PCR) amplification of rho-1 and rho-2 (GABRR2; 137162) gene sequences from DNA of 3 somatic cell hybrid panels, Cutting et al. (1992) mapped both genes to human chromosome 6, bands q14-q21. Tight linkage was also demonstrated between restriction fragment length variants (RFLVs) from each rho gene and the Tsha locus on mouse chromosome 4, which is homologous to the CGA locus (118850) on human chromosome 6q12-q21.
Cutting et al. (1991) found that compared to other GABA-activated chloride channels expressed singly in oocytes, the rho-1 subunit has a higher sensitivity to picrotoxin, a convulsant inhibitor of GABA-activated chloride channels. Chloride ion substitution experiments confirmed that the rho-1 subunit contains a chloride-selective anion channel.
Cutting, G. R., Curristin, S., Zoghbi, H., O'Hara, B., Seldin, M. F., Uhl, G. R. Identification of a putative gamma-aminobutyric acid (GABA) receptor subunit rho-2 cDNA and colocalization of the genes encoding rho-2 (GABRR2) and rho-1 (GABRR1) to human chromosome 6q14-q21 and mouse chromosome 4. Genomics 12: 801-806, 1992. [PubMed: 1315307] [Full Text: https://doi.org/10.1016/0888-7543(92)90312-g]
Cutting, G. R., Lu, L., O'Hara, B. F., Kasch, L. M., Montrose-Rafizadeh, C., Donovan, D. M., Shimada, S., Antonarakis, S. E., Guggino, W. B., Uhl, G. R., Kazazian, H. H., Jr. Cloning of the gamma-aminobutyric acid (GAGA) rho-1 cDNA: a GABA receptor subunit highly expressed in the retina. Proc. Nat. Acad. Sci. 88: 2673-2677, 1991. [PubMed: 1849271] [Full Text: https://doi.org/10.1073/pnas.88.7.2673]