GABRD
entrez
2563
canonical
uniprot
O14764
canonical
ensembl
ENSG00000187730
resolver
ensp
ENSP00000367848
resolver
enst
ENST00000378585
resolver
genesymbol
GABRD
resolver
hgnc
HGNC:4084
resolver
uniprot
A8K496
resolver
uniprot
Q8N4N9
resolver
uniprot_entry
A8K496_HUMAN
resolver
uniprot_entry
GBRD_HUMAN
resolver
uniprot_sec
Q8N4N9
resolver
amino_acid_sequence
MDAPARLLAPLLLLCAQQLRGTRAMNDIGDYVGSNLEISWLPNLDGLIAGYARNFRPGIGGPPVNVALALEVASIDHISEANMEYTMTVFLHQSWRDSRLSYNHTNETLGLDSRFVDKLWLPDTFIVNAKSAWFHDVTVENKLIRLQPDGVILYSIRITSTVACDMDLAKYPMDEQECMLDLESYGYSSEDIVYYWSESQEHIHGLDKLQLAQFTITSYRFTTELMNFKSAGQFPRLSLHFHLRRNRGVYIIQSYMPSVLLVAMSWVSFWISQAAVPARVSLGITTVLTMTTLMVSARSSLPRASAIKALDVYFWICYVFVFAALVEYAFAHFNADYRKKQKAKVKVSRPRAEMDVRNAIVLFSLSAAGVTQELAISRRQRRVPGNLMGSYRSVGVETGETKKEGAARSGGQGGIRARLRPIDADTIDIYARAVFPAAFAAVNVIYWAAYAM
uniprot
proteins
disease_involvement
DISEASE: Generalized epilepsy with febrile seizures plus 5 (GEFSP5) [MIM:613060]: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. {ECO:0000269|PubMed:15115768}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Epilepsy, idiopathic generalized 10 (EIG10) [MIM:613060]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269|PubMed:15115768}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Delta subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:35355020). 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:35355020). When activated by GABA, GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (PubMed:35355020). GABAARs containing delta/GABRD subunits are predominantly located in extrasynaptic or perisynaptic positions on hippocampus and cerebellar granule cells, and contribute to the tonic GABAergic inhibition (By similarity). GABAAR containing alpha-4-beta-3-delta subunits 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:35355020). {ECO:0000250|UniProtKB:P18506, ECO:0000269|PubMed:35355020}.
uniprot
proteins
mass_dalton
50708
uniprot
proteins
protein_family
GABRD 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
15115768
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
27864847
uniprot
proteins
pubmed
27932480
uniprot
proteins
pubmed
35355020
uniprot
proteins
sequence_length
452
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P18506}; Multi-pass membrane protein {ECO:0000269|PubMed:35355020}.
uniprot
proteins
transmembrane_region
TRANSMEM 252..271; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7"; TRANSMEM 276..298; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7"; TRANSMEM 309..331; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7"; TRANSMEM 427..449; /note="Helical"; /evidence="ECO:0000269|PubMed:35355020, ECO:0007744|PDB:7QN7
uniprot
proteins