GABRA5
entrez
2558
canonical
uniprot
P31644
canonical
ensembl
ENSG00000186297
resolver
ensp
ENSP00000335592
resolver
ensp
ENSP00000347557
resolver
ensp
ENSP00000382953
resolver
ensp
ENSP00000549625
resolver
ensp
ENSP00000621915
resolver
ensp
ENSP00000771508
resolver
enst
ENST00000335625
resolver
enst
ENST00000355395
resolver
enst
ENST00000400081
resolver
enst
ENST00000879566
resolver
enst
ENST00000951856
resolver
genesymbol
GABRA5
resolver
hgnc
HGNC:4079
resolver
uniprot
A8K338
resolver
uniprot
Q14DC2
resolver
uniprot
Q53XL6
resolver
uniprot
Q9NYT3
resolver
uniprot
Q9NYT4
resolver
uniprot
Q9NYT5
resolver
uniprot_entry
GBRA5_HUMAN
resolver
uniprot_sec
A8K338
resolver
uniprot_sec
Q14DC2
resolver
uniprot_sec
Q53XL6
resolver
uniprot_sec
Q9NYT3
resolver
uniprot_sec
Q9NYT4
resolver
uniprot_sec
Q9NYT5
resolver
amino_acid_sequence
MDNGMFSGFIMIKNLLLFCISMNLSSHFGFSQMPTSSVKDETNDNITIFTRILDGLLDGYDNRLRPGLGERITQVRTDIYVTSFGPVSDTEMEYTIDVFFRQSWKDERLRFKGPMQRLPLNNLLASKIWTPDTFFHNGKKSIAHNMTTPNKLLRLEDDGTLLYTMRLTISAECPMQLEDFPMDAHACPLKFGSYAYPNSEVVYVWTNGSTKSVVVAEDGSRLNQYHLMGQTVGTENISTSTGEYTIMTAHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRGWAWDGKKALEAAKIKKKREVILNKSTNAFTTGKMSHPPNIPKEQTPAGTSNTTSVSVKPSEEKTSESKKTYNSISKIDKMSRIVFPVLFGTFNLVYWATYLNREPVIKGAASPK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 79 (DEE79) [MIM:618559]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE79 is an autosomal dominant form characterized by onset of refractory seizures in the first months of life. Brain imaging may show hypomyelination, cerebral atrophy and thinning of the corpus callosum. {ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31056671}. 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:14993607, PubMed:29961870, PubMed:30140029, PubMed:31056671). 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) (PubMed:30140029). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:30140029). GABAARs containing alpha-5/GABRA5 subunits are mainly extrasynaptic and contribute to the tonic GABAergic inhibition in the hippocampus (By similarity). Extrasynaptic alpha-5-containing GABAARs in CA1 pyramidal neurons play a role in learning and memory processes (By similarity). {ECO:0000250|UniProtKB:Q8BHJ7, ECO:0000269|PubMed:14993607, ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:30140029, ECO:0000269|PubMed:31056671}.
uniprot
proteins
mass_dalton
52146
uniprot
proteins
protein_family
GABRA5 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
1321750
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14993607
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17370265
uniprot
proteins
pubmed
29961870
uniprot
proteins
pubmed
30140029
uniprot
proteins
pubmed
31056671
uniprot
proteins
pubmed
8388764
uniprot
proteins
pubmed
9205108
uniprot
proteins
sequence_length
462
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000269|PubMed:31056671}; Multi-pass membrane protein {ECO:0000269|PubMed:30140029}. Cell membrane {ECO:0000269|PubMed:31056671}; Multi-pass membrane protein {ECO:0000269|PubMed:30140029}.
uniprot
proteins
transmembrane_region
TRANSMEM 261..281; /note="Helical"; /evidence="ECO:0000269|PubMed:30140029, ECO:0007744|PDB:6A96"; TRANSMEM 287..308; /note="Helical"; /evidence="ECO:0000269|PubMed:30140029, ECO:0007744|PDB:6A96"; TRANSMEM 319..340; /note="Helical"; /evidence="ECO:0000269|PubMed:30140029, ECO:0007744|PDB:6A96"; TRANSMEM 428..448; /note="Helical"; /evidence="ECO:0000269|PubMed:30140029, ECO:0007744|PDB:6A96
uniprot
proteins