Protein Details: Gamma-aminobutyric acid receptor subunit alpha-3

Protein ID

ICDB_Pro_0489

Protein Name

Gamma-aminobutyric acid receptor subunit alpha-3

Gene Name

GABRA3

Organism

Homo sapiens (Human)

Length

492 amino acids

AlphaFoldDB

AF-P34903-F1-model_v4.pdb

Function

Alpha 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 interface(s) (By similarity). When activated by GABA;GABAARs selectively allow the flow of chloride anions across the cell membrane down their electrochemical gradient. Chloride influx into the postsynaptic neuron following GABAAR opening decreases the neuron ability to generate a new action potential;thereby reducing nerve transmission.

Sequence

MIITQTSHCYMTSLGILFLINILPGTTGQGESRRQEPGDFVKQDIGGLSPKHAPDIPDDSTDNITIFTRILDRLLDGYDNRLRPGLGDAVTEVKTDIYVTSFGPVSDTDMEYTIDVFFRQTWHDERLKFDGPMKILPLNNLLASKIWTPDTFFHNGKKSVAHNMTTPNKLLRLVDNGTLLYTMRLTIHAECPMHLEDFPMDVHACPLKFGSYAYTTAEVVYSWTLGKNKSVEVAQDGSRLNQYDLLGHVVGTEIIRSSTGEYVVMTTHFHLKRKIGYFVIQTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVFSALIEFATVNYFTKRSWAWEGKKVPEALEMKKKTPAAPAKKTSTTFNIVGTTYPINLAKDTEFSTISKGAAPSASSTPTIIASPKATYVQDSPTETKTYNSVSKVDKISRIIFPVLFAIFNLVYWATYVNRESAIKGMIRKQ

PDB Structures

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

BINDING 119; /ligand="4-aminobutanoate": "ligand shared with the neighboring beta subunit"; BINDING 182; /ligand="4-aminobutanoate": "ligand shared with the neighboring beta subunit"

Disease

Epilepsy;X-Linked;With Or Without Impaired Intellectual Development And Dysmorphic Features and Thyrotoxic Periodic Paralysis

Location

DOI ID

10.1002/(sici)1096-8628(20000103)90:1<69::aid-ajmg12>3.3.co;2-n; 10.1101/gr.2596504; 10.1186/1471-2210-6-1; 10.15252/emmm.201505323; 10.1093/braiwx236

RefSeq

NP_000799.1