GABRA3
entrez
2556
canonical
uniprot
P34903
canonical
ensembl
ENSG00000011677
resolver
ensp
ENSP00000359337
resolver
ensp
ENSP00000443527
resolver
ensp
ENSP00000532801
resolver
ensp
ENSP00000532802
resolver
ensp
ENSP00000745949
resolver
enst
ENST00000370314
resolver
enst
ENST00000535043
resolver
enst
ENST00000862742
resolver
enst
ENST00000862743
resolver
genesymbol
GABRA3
resolver
hgnc
HGNC:4077
resolver
uniprot
Q8TAF9
resolver
uniprot_entry
GBRA3_HUMAN
resolver
uniprot_sec
Q8TAF9
resolver
activity_regulation
ACTIVITY REGULATION: Potentiated by etomidate, propofol, pregnanolone and flurazepam. {ECO:0000269|PubMed:16412217}.
uniprot
proteins
amino_acid_sequence
MIITQTSHCYMTSLGILFLINILPGTTGQGESRRQEPGDFVKQDIGGLSPKHAPDIPDDSTDNITIFTRILDRLLDGYDNRLRPGLGDAVTEVKTDIYVTSFGPVSDTDMEYTIDVFFRQTWHDERLKFDGPMKILPLNNLLASKIWTPDTFFHNGKKSVAHNMTTPNKLLRLVDNGTLLYTMRLTIHAECPMHLEDFPMDVHACPLKFGSYAYTTAEVVYSWTLGKNKSVEVAQDGSRLNQYDLLGHVVGTEIIRSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRSWAWEGKKVPEALEMKKKTPAAPAKKTSTTFNIVGTTYPINLAKDTEFSTISKGAAPSASSTPTIIASPKATYVQDSPTETKTYNSVSKVDKISRIIFPVLFAIFNLVYWATYVNRESAIKGMIRKQ
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (EPILX2) [MIM:301091]: A neurologic disorder characterized by variable combinations of epileptic seizure, and a varying degree of intellectual disability and developmental delay. Some patients have dysmorphic facial features or mild skeletal anomalies. In general, males are more severely affected than females, although there is evidence for incomplete penetrance in both sexes. {ECO:0000269|PubMed:29053855}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:16412217, PubMed:29053855). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:16412217, PubMed:29053855). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (PubMed:16412217, PubMed:29053855). {ECO:0000250|UniProtKB:P14867, ECO:0000269|PubMed:16412217, ECO:0000269|PubMed:29053855}.
uniprot
proteins
mass_dalton
55165
uniprot
proteins
protein_family
GABRA3 sub-subfamily
uniprot
proteins
protein_family
Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily
uniprot
proteins
protein_family
Ligand-gated ion channel (TC 1.A.9) family
uniprot
proteins
pubmed
10602120
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16412217
uniprot
proteins
pubmed
26613940
uniprot
proteins
pubmed
29053855
uniprot
proteins
pubmed
8391122
uniprot
proteins
sequence_length
492
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250|UniProtKB:P14867}; Multi-pass membrane protein. Cell membrane {ECO:0000250|UniProtKB:P14867}; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 275..295; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 306..325; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 337..357; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 458..478; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins