GABRB3
entrez
2562
canonical
uniprot
P28472
canonical
ensembl
ENSG00000166206
resolver
ensp
ENSP00000299267
resolver
ensp
ENSP00000308725
resolver
ensp
ENSP00000383049
resolver
ensp
ENSP00000489768
resolver
genesymbol
GABRB3
resolver
hgnc
HGNC:4083
resolver
uniprot
B2RCW8
resolver
uniprot
B7Z2W1
resolver
uniprot
B7Z825
resolver
uniprot
F5H3D2
resolver
uniprot
H7BYV8
resolver
uniprot
Q14352
resolver
uniprot
Q96FM5
resolver
uniprot
X5DQY4
resolver
uniprot_entry
B2RCW8_HUMAN
resolver
uniprot_entry
GBRB3_HUMAN
resolver
uniprot_entry
X5DQY4_HUMAN
resolver
uniprot_sec
B7Z2W1
resolver
uniprot_sec
B7Z825
resolver
uniprot_sec
F5H3D2
resolver
uniprot_sec
H7BYV8
resolver
uniprot_sec
Q14352
resolver
uniprot_sec
Q96FM5
resolver
activity_regulation
ACTIVITY REGULATION: Potentiated by histamine. {ECO:0000269|PubMed:18281286, ECO:0000269|PubMed:35355020}.
uniprot
proteins
amino_acid_sequence
MWGLAGGRLFGIFSAPVLVAVVCCAQSVNDPGNMSFVKETVDKLLKGYDIRLRPDFGGPPVCVGMNIDIASIDMVSEVNMDYTLTMYFQQYWRDKRLAYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWRGGDKAVTGVERIELPQFSIVEHRLVSRNVVFATGAYPRLSLSFRLKRNIGYFILQTYMPSILITILSWVSFWINYDASAARVALGITTVLTMTTINTHLRETLPKIPYVKAIDMYLMGCFVFVFLALLEYAFVNYIFFGRGPQRQKKLAEKTAKAKNDRSKSESNRVDAHGNILLTSLEVHNEMNEVSGGIGDTRNSAISFDNSGIQYRKQSMPREGHGRFLGDRSLPHKKTHLRRRSSQLKIKIPDLTDVNAIDRWSRIVFPFTFSLFNLVYWLYYVN
uniprot
proteins
disease_involvement
DISEASE: Epilepsy, childhood absence 5 (ECA5) [MIM:612269]: A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood. {ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22303015}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113]: 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. DEE43 inheritance is autosomal dominant. {ECO:0000269|PubMed:23934111, ECO:0000269|PubMed:25356899, ECO:0000269|PubMed:26950270, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27476654, ECO:0000269|PubMed:27864847}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Beta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:18514161, PubMed:22243422, PubMed:22303015, PubMed:24909990, PubMed:26950270, PubMed:30602789). 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:24909990, PubMed:30140029, PubMed:30602789). GABAARs containing beta-3/GABRB3 subunit are found at both synaptic and extrasynaptic sites (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:14993607, PubMed:22303015, PubMed:26950270, PubMed:30602789). Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential, thereby reducing nerve transmission (PubMed:22303015, PubMed:26950270). GABAARs containing alpha-1 and beta-3 subunits exhibit synaptogenic activity; the gamma-2 subunit being necessary but not sufficient to induce rapid synaptic contacts formation (PubMed:25489750). Extrasynaptic beta-3 receptors contribute to the tonic GABAergic inhibition (By similarity). GABAARs containing alpha-1, beta-3 and epsilon subunits may also permit spontaneous chloride channel activity while preserving the structural information required for GABA-gated openings (By similarity). Beta-containing GABAARs can simultaneously bind GABA and histamine where histamine binds at the interface of two neighboring beta subunits, which may be involved in the regulation of sleep and wakefulness (PubMed:18281286, PubMed:24909990, PubMed:35355020). Plays an important role in somatosensation and in the production of antinociception (By similarity). {ECO:0000250|UniProtKB:P63079, ECO:0000250|UniProtKB:P63080, ECO:0000269|PubMed:14993607, ECO:0000269|PubMed:18281286, ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22243422, ECO:0000269|PubMed:22303015, ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:25489750, ECO:0000269|PubMed:26950270, ECO:0000269|PubMed:30140029, ECO:0000269|PubMed:30602789, ECO:0000269|PubMed:35355020}.
uniprot
proteins
mass_dalton
54116
uniprot
proteins
protein_family
GABRB3 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
12189488
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14993607
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
1664410
uniprot
proteins
pubmed
1714232
uniprot
proteins
pubmed
18281286
uniprot
proteins
pubmed
18514161
uniprot
proteins
pubmed
22243422
uniprot
proteins
pubmed
22303015
uniprot
proteins
pubmed
23934111
uniprot
proteins
pubmed
24909990
uniprot
proteins
pubmed
25356899
uniprot
proteins
pubmed
25489750
uniprot
proteins
pubmed
26950270
uniprot
proteins
pubmed
26993267
uniprot
proteins
pubmed
27476654
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
28544625
uniprot
proteins
pubmed
30140029
uniprot
proteins
pubmed
30602789
uniprot
proteins
pubmed
35355020
uniprot
proteins
pubmed
8382702
uniprot
proteins
sequence_length
473
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane protein {ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7}. Cell membrane {ECO:0000269|PubMed:18281286, ECO:0000269|PubMed:18514161, ECO:0000269|PubMed:22243422, ECO:0000269|PubMed:22303015, ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:26950270}; Multi-pass membrane protein {ECO:0000269|PubMed:24909990, ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P63079}.
uniprot
proteins
transmembrane_region
TRANSMEM 247..267; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7"; TRANSMEM 272..292; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7"; TRANSMEM 305..328; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7"; TRANSMEM 448..470; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7
uniprot
proteins