Human Gene GABRD (ENST00000378585.7) from GENCODE V44
Description: Homo sapiens gamma-aminobutyric acid type A receptor subunit delta (GABRD), mRNA. (from RefSeq NM_000815) RefSeq Summary (NM_000815): Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. The GABA-A receptor is generally pentameric and there are five types of subunits: alpha, beta, gamma, delta, and rho. This gene encodes the delta subunit. Mutations in this gene have been associated with susceptibility to generalized epilepsy with febrile seizures, type 5. Alternatively spliced transcript variants have been described for this gene, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000378585.7 Gencode Gene: ENSG00000187730.9 Transcript (Including UTRs) Position: hg38 chr1:2,019,345-2,030,758 Size: 11,414 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr1:2,019,424-2,030,282 Size: 10,859 Coding Exon Count: 9
ID:GBRD_HUMAN DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor subunit delta; AltName: Full=GABA(A) receptor subunit delta; Flags: Precursor; FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and rho. SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. DISEASE: Defects in GABRD are the cause of susceptibility to generalized epilepsy with febrile seizures plus type 5 (GEFS+5) [MIM:613060]. Generalized epilepsy with febrile seizures-plus refers to a rare 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. GEFS+ is a disease combining febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity. DISEASE: Defects in GABRD are the cause of susceptibility to epilepsy, idiopathic generalized type 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. DISEASE: Defects in GABRD are the cause of susceptibility to juvenile myoclonic epilepsy type 7 (EJM7) [MIM:613060]. A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRD sub-subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O14764
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.