GABRB1
entrez
2560
canonical
uniprot
P18505
canonical
ensembl
ENSG00000163288
resolver
ensp
ENSP00000295454
resolver
ensp
ENSP00000792430
resolver
genesymbol
GABRB1
resolver
hgnc
HGNC:4081
resolver
uniprot
B2R6U7
resolver
uniprot
D6REL3
resolver
uniprot
Q16166
resolver
uniprot
Q8TBK3
resolver
uniprot
X5DNL6
resolver
uniprot_entry
GBRB1_HUMAN
resolver
uniprot_entry
X5DNL6_HUMAN
resolver
uniprot_sec
B2R6U7
resolver
uniprot_sec
D6REL3
resolver
uniprot_sec
Q16166
resolver
uniprot_sec
Q8TBK3
resolver
activity_regulation
ACTIVITY REGULATION: Potentiated by etomidate, propofol, pregnanolone and flurazepam (PubMed:16412217). Potentiated by histamine (By similarity). {ECO:0000250|UniProtKB:P63138, ECO:0000269|PubMed:16412217}.
uniprot
proteins
amino_acid_sequence
MWTVQNRESLGLLSFPVMITMVCCAHSTNEPSNMSYVKETVDRLLKGYDIRLRPDFGGPPVDVGMRIDVASIDMVSEVNMDYTLTMYFQQSWKDKRLSYSGIPLNLTLDNRVADQLWVPDTYFLNDKKSFVHGVTVKNRMIRLHPDGTVLYGLRITTTAACMMDLRRYPLDEQNCTLEIESYGYTTDDIEFYWNGGEGAVTGVNKIELPQFSIVDYKMVSKKVEFTTGAYPRLSLSFRLKRNIGYFILQTYMPSTLITILSWVSFWINYDASAARVALGITTVLTMTTISTHLRETLPKIPYVKAIDIYLMGCFVFVFLALLEYAFVNYIFFGKGPQKKGASKQDQSANEKNKLEMNKVQVDAHGNILLSTLEIRNETSGSEVLTSVSDPKATMYSYDSASIQYRKPLSSREAYGRALDRHGVPSKGRIRRRASQLKVKIPDLTDVNSIDKWSRMFFPITFSLFNVVYWLYYVH
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 45 (DEE45) [MIM:617153]: 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. {ECO:0000269|PubMed:23934111, ECO:0000269|PubMed:26950270, ECO:0000269|PubMed:27273810}. 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:10449790, PubMed:16412217, PubMed:26950270). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain one or two GABA active binding sites located at the alpha and beta subunit interfaces, depending on subunit composition (By similarity). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:10449790, PubMed:16412217, PubMed:26950270). 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:26950270). 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 (By similarity). {ECO:0000250|UniProtKB:P15431, ECO:0000250|UniProtKB:P28472, ECO:0000269|PubMed:10449790, ECO:0000269|PubMed:16412217, ECO:0000269|PubMed:26950270}.
uniprot
proteins
mass_dalton
54235
uniprot
proteins
protein_family
GABRB1 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
10449790
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16412217
uniprot
proteins
pubmed
1655634
uniprot
proteins
pubmed
2160058
uniprot
proteins
pubmed
23934111
uniprot
proteins
pubmed
2465923
uniprot
proteins
pubmed
24722188
uniprot
proteins
pubmed
26950270
uniprot
proteins
pubmed
27273810
uniprot
proteins
pubmed
8178835
uniprot
proteins
sequence_length
474
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Postsynaptic cell membrane {ECO:0000250|UniProtKB:P08220}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P08220}. Cell membrane {ECO:0000269|PubMed:26950270}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P08220}.
uniprot
proteins
transmembrane_region
TRANSMEM 246..267; /note="Helical"; /evidence="ECO:0000305"; TRANSMEM 271..293; /note="Helical"; /evidence="ECO:0000305"; TRANSMEM 305..327; /note="Helical"; /evidence="ECO:0000305"; TRANSMEM 452..473; /note="Helical"; /evidence="ECO:0000305
uniprot
proteins