Protein Details: Gamma-aminobutyric acid receptor subunit epsilon
Protein ID
ICDB_Pro_0694
Protein Name
Gamma-aminobutyric acid receptor subunit epsilon
Gene Name
GABRE
Organism
Homo sapiens (Human)
Length
506 amino acids
AlphaFoldDB
AF-P78334-F1-model_v4.pdb
Function
Epsilon subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA);a major inhibitory neurotransmitter in the brain. 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 interfaces (By similarity). When activated by GABA;GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient (By similarity). GABAARs containing epsilon subunits also permit spontaneous chloride channel activity while preserving the structural information required for GABA-gated openings. GABARs containing epsilon subunit may regulate cardiac function (Probable).
Sequence
PDB Structures
Ligand Binding
Binding Site
Disease
Autism Spectrum Disorder and Bladder Sarcomatoid Transitional Cell Carcinoma
Location
Expressed in many tissues (PubMed:9339354). Highest levels of expression in adult heart and placenta (PubMed:9084408;PubMed:9339354;PubMed:9882711).
DOI ID
10.1038/385820a0; 10.1006/geno.1997.4885; 10.1046/j.1471-4159.1997.68041382.x; 10.1038/nature03440; 10.1101/gr.2596504; 10.1124/mol.55.1.168; 10.1186/1471-2210-6-1
RefSeq
NP_004952.2 [P78334-1]