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

Protein ID

ICDB_Pro_1422

Protein Name

Gamma-aminobutyric acid receptor subunit gamma-3

Gene Name

GABRG3

Organism

Homo sapiens (Human)

Length

467 amino acids

AlphaFoldDB

AF-Q99928-F1-model_v4.pdb

Function

Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA);a major inhibitory neurotransmitter in the brain (By similarity). 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 across the cell membrane down their electrochemical gradient (By similarity).

Sequence

MAPKLLLLLCLFSGLHARSRKVEEDEYEDSSSNQKWVLAPKSQDTDVTLILNKLLREYDKKLRPDIGIKPTVIDVDIYVNSIGPVSSINMEYQIDIFFAQTWTDSRLRFNSTMKILTLNSNMVGLIWIPDTIFRNSKTAEAHWITTPNQLLRIWNDGKILYTLRLTINAECQLQLHNFPMDEHSCPLIFSSYGYPKEEMIYRWRKNSVEAADQKSWRLYQFDFMGLRNTTEIVTTSAGDYVVMTIYFELSRRMGYFTIQTYIPCILTVVLSWVSFWIKKDATPARTALGITTVLTMTTLSTIARKSLPRVSYVTAMDLFVTVCFLFVFAALMEYATLNYYSSCRKPTTTKKTTSLLHPDSSRWIPERISLQAPSNYSLLDMRPPPTAMITLNNSVYWQEFEDTCVYECLDGKDCQSFFCCYEECKSGSWRKGRIHIDILELDSYSRVFFPTSFLLFNLVYWVGYLYL

PDB Structures

Ligand Binding

1. DICL_CP

2. DICL_Pep

Binding Site

Disease

Angelman Syndrome and Autism Spectrum Disorder

Location

Expressed in brain

DOI ID

10.1016/0922-4106(95)90070-5; 10.1038/nature04601; 10.1101/gr.2596504; 10.1136/jmedgenet-2015-103179

RefSeq

NP_001257802.1 [Q99928-2]; NP_150092.2 [Q99928-1]