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

MLSKVLPVLLGILLILQSRVEGPQTESKNEASSRDVVYGPQPQPLENQLLSEETKSTETETGSRVGKLPEASRILNTILSNYDHKLRPGIGEKPTVVTVEISVNSLGPLSILDMEYTIDIIFSQTWYDERLCYNDTFESLVLNGNVVSQLWIPDTFFRNSKRTHEHEITMPNQMVRIYKDGKVLYTIRMTIDAGCSLHMLRFPMDSHSCPLSFSSFSYPENEMIYKWENFKLEINEKNSWKLFQFDFTGVSNKTEIITTPVGDFMVMTIFFNVSRRFGYVAFQNYVPSSVTTMLSWVSFWIKTESAPARTSLGITSVLTMTTLGTFSRKNFPRVSYITALDFYIAICFVFCFCALLEFAVLNFLIYNQTKAHASPKLRHPRINSRAHARTRARSRACARQHQEAFVCQIVTTEGSDGEERPSCSAQQPPSPGSPEGPRSLCSKLACCEWCKRFKKYFCMVPDCEGSTWQQGRLCIHVYRLDNYSRVVFPVTFFFFNVLYWLVCLNL

PDB Structures

Ligand Binding

1. DICL_CP

2. DICL_Pep

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]

Feature