InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GABRD

Summary

InnateDB Protein

IDBP-86093.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GABRD

Protein Name

gamma-aminobutyric acid (GABA) A receptor, delta

Synonyms

EIG10; EJM7; GEFSP5;

Species

Homo sapiens

Ensembl Protein

ENSP00000367848

InnateDB Gene

IDBG-86091 (GABRD)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Disease Associations

Generalized epilepsy with febrile seizures plus 5 (GEFS+5) [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:0000269PubMed:15115768}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Juvenile myoclonic epilepsy 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004890	GABA-A receptor activity
GO:0005230	extracellular ligand-gated ion channel activity
GO:0005254	chloride channel activity

Biological Process

GO:0006810	transport
GO:0006811	ion transport
GO:0007165	signal transduction
GO:0007268	synaptic transmission
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030054	cell junction
GO:0034707	chloride channel complex
GO:0045211	postsynaptic membrane

Protein Structure and Domains

PDB ID

InterPro

IPR006028 Gamma-aminobutyric acid A receptor/Glycine receptor alpha
IPR006029 Neurotransmitter-gated ion-channel transmembrane domain
IPR006201 Neurotransmitter-gated ion-channel
IPR006202 Neurotransmitter-gated ion-channel ligand-binding
IPR008098 Gamma-aminobutyric-acid A receptor delta subunit

PFAM

PF02932
PF02931

PRINTS

PR00253
PR00252
PR01722

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O14764