GBRA3_HUMAN
ID GBRA3_HUMAN Reviewed; 492 AA.
AC P34903; Q8TAF9;
DT 01-FEB-1994, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-1994, sequence version 1.
DT 03-AUG-2022, entry version 201.
DE RecName: Full=Gamma-aminobutyric acid receptor subunit alpha-3;
DE AltName: Full=GABA(A) receptor subunit alpha-3;
DE Flags: Precursor;
GN Name=GABRA3;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain;
RX PubMed=8391122;
RA Hadingham K.L., Wingrove P., le Bourdelles B., Palmer K.J., Ragan C.I.,
RA Whiting P.J.;
RT "Cloning of cDNA sequences encoding human alpha 2 and alpha 3 gamma-
RT aminobutyric acidA receptor subunits and characterization of the
RT benzodiazepine pharmacology of recombinant alpha 1-, alpha 2-, alpha 3-,
RT and alpha 5-containing human gamma-aminobutyric acidA receptors.";
RL Mol. Pharmacol. 43:970-975(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=10602120;
RX DOI=10.1002/(sici)1096-8628(20000103)90:1<69::aid-ajmg12>3.0.co;2-w;
RA Amir R., Dahle E.J., Toriolo D., Zoghbi H.Y.;
RT "Candidate gene analysis in Rett syndrome and the identification of 21 SNPs
RT in Xq.";
RL Am. J. Med. Genet. 90:69-71(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INTERACTION WITH GPHN.
RX PubMed=26613940; DOI=10.15252/emmm.201505323;
RG EuroEPINOMICS Dravet working group;
RA Dejanovic B., Djemie T., Gruenewald N., Suls A., Kress V., Hetsch F.,
RA Craiu D., Zemel M., Gormley P., Lal D., Myers C.T., Mefford H.C.,
RA Palotie A., Helbig I., Meier J.C., De Jonghe P., Weckhuysen S., Schwarz G.;
RT "Simultaneous impairment of neuronal and metabolic function of mutated
RT gephyrin in a patient with epileptic encephalopathy.";
RL EMBO Mol. Med. 7:1580-1594(2015).
CC -!- FUNCTION: GABA, the major inhibitory neurotransmitter in the vertebrate
CC brain, mediates neuronal inhibition by binding to the
CC GABA/benzodiazepine receptor and opening an integral chloride channel.
CC -!- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor
CC chains: alpha, beta, gamma, delta, and rho. Binds UBQLN1 (By
CC similarity). Interacts with GPHN (PubMed:26613940).
CC {ECO:0000250|UniProtKB:P26049, ECO:0000269|PubMed:26613940}.
CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane; Multi-pass membrane
CC protein. Cell membrane; Multi-pass membrane protein.
CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) family.
CC Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA3 sub-
CC subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue 56
CC of March 2005;
CC URL="https://web.expasy.org/spotlight/back_issues/056";
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DR EMBL; S62908; AAB27279.1; -; mRNA.
DR EMBL; AF166361; AAG12455.1; -; Genomic_DNA.
DR EMBL; AF165901; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; AF165902; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; AF165903; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; AF165904; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; AF165905; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; AF165906; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; AF166359; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; AF166360; AAG12455.1; JOINED; Genomic_DNA.
DR EMBL; BC028629; AAH28629.1; -; mRNA.
DR CCDS; CCDS14706.1; -.
DR PIR; I77911; I77911.
DR RefSeq; NP_000799.1; NM_000808.3.
DR AlphaFoldDB; P34903; -.
DR SMR; P34903; -.
DR BioGRID; 108830; 25.
DR ComplexPortal; CPX-2166; GABA-A receptor, alpha-3/beta-3/gamma-2.
DR IntAct; P34903; 20.
DR STRING; 9606.ENSP00000359337; -.
DR BindingDB; P34903; -.
DR ChEMBL; CHEMBL3026; -.
DR DrugBank; DB12537; 1,2-Benzodiazepine.
DR DrugBank; DB00546; Adinazolam.
DR DrugBank; DB06579; Adipiplon.
DR DrugBank; DB00404; Alprazolam.
DR DrugBank; DB01351; Amobarbital.
DR DrugBank; DB00543; Amoxapine.
DR DrugBank; DB11901; Apalutamide.
DR DrugBank; DB01352; Aprobarbital.
DR DrugBank; DB13994; AZD-7325.
DR DrugBank; DB01483; Barbital.
DR DrugBank; DB14719; Bentazepam.
DR DrugBank; DB11859; Brexanolone.
DR DrugBank; DB01558; Bromazepam.
DR DrugBank; DB09017; Brotizolam.
DR DrugBank; DB00237; Butabarbital.
DR DrugBank; DB00241; Butalbital.
DR DrugBank; DB01353; Butobarbital.
DR DrugBank; DB01489; Camazepam.
DR DrugBank; DB00395; Carisoprodol.
DR DrugBank; DB00475; Chlordiazepoxide.
DR DrugBank; DB14715; Cinazepam.
DR DrugBank; DB01594; Cinolazepam.
DR DrugBank; DB00349; Clobazam.
DR DrugBank; DB01068; Clonazepam.
DR DrugBank; DB00628; Clorazepic acid.
DR DrugBank; DB01559; Clotiazepam.
DR DrugBank; DB01553; Cloxazolam.
DR DrugBank; DB01511; Delorazepam.
DR DrugBank; DB01189; Desflurane.
DR DrugBank; DB00829; Diazepam.
DR DrugBank; DB01496; Dihydro-2-thioxo-5-((5-(2-(trifluoromethyl)phenyl)-2-furanyl)methyl)-4,6(1H,5H)-pyrimidinedione.
DR DrugBank; DB13837; Doxefazepam.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB01215; Estazolam.
DR DrugBank; DB00402; Eszopiclone.
DR DrugBank; DB00898; Ethanol.
DR DrugBank; DB00189; Ethchlorvynol.
DR DrugBank; DB01545; Ethyl loflazepate.
DR DrugBank; DB09166; Etizolam.
DR DrugBank; DB00292; Etomidate.
DR DrugBank; DB01567; Fludiazepam.
DR DrugBank; DB01205; Flumazenil.
DR DrugBank; DB01544; Flunitrazepam.
DR DrugBank; DB00690; Flurazepam.
DR DrugBank; DB05087; Ganaxolone.
DR DrugBank; DB01437; Glutethimide.
DR DrugBank; DB00801; Halazepam.
DR DrugBank; DB01159; Halothane.
DR DrugBank; DB01354; Heptabarbital.
DR DrugBank; DB01355; Hexobarbital.
DR DrugBank; DB00753; Isoflurane.
DR DrugBank; DB01587; Ketazolam.
DR DrugBank; DB00555; Lamotrigine.
DR DrugBank; DB13643; Loprazolam.
DR DrugBank; DB00186; Lorazepam.
DR DrugBank; DB13872; Lormetazepam.
DR DrugBank; DB13437; Medazepam.
DR DrugBank; DB00603; Medroxyprogesterone acetate.
DR DrugBank; DB01043; Memantine.
DR DrugBank; DB00371; Meprobamate.
DR DrugBank; DB00463; Metharbital.
DR DrugBank; DB01028; Methoxyflurane.
DR DrugBank; DB00849; Methylphenobarbital.
DR DrugBank; DB01107; Methyprylon.
DR DrugBank; DB15489; Mexazolam.
DR DrugBank; DB00683; Midazolam.
DR DrugBank; DB01595; Nitrazepam.
DR DrugBank; DB14028; Nordazepam.
DR DrugBank; DB00334; Olanzapine.
DR DrugBank; DB00842; Oxazepam.
DR DrugBank; DB14672; Oxazepam acetate.
DR DrugBank; DB04903; Pagoclone.
DR DrugBank; DB00312; Pentobarbital.
DR DrugBank; DB00252; Phenytoin.
DR DrugBank; DB13335; Pinazepam.
DR DrugBank; DB01708; Prasterone.
DR DrugBank; DB01588; Prazepam.
DR DrugBank; DB00794; Primidone.
DR DrugBank; DB00818; Propofol.
DR DrugBank; DB01589; Quazepam.
DR DrugBank; DB12404; Remimazolam.
DR DrugBank; DB00418; Secobarbital.
DR DrugBank; DB01236; Sevoflurane.
DR DrugBank; DB09118; Stiripentol.
DR DrugBank; DB00306; Talbutal.
DR DrugBank; DB01956; Taurine.
DR DrugBank; DB00231; Temazepam.
DR DrugBank; DB11582; Thiocolchicoside.
DR DrugBank; DB00599; Thiopental.
DR DrugBank; DB00897; Triazolam.
DR DrugBank; DB00425; Zolpidem.
DR DrugBank; DB01198; Zopiclone.
DR DrugCentral; P34903; -.
DR GuidetoPHARMACOLOGY; 406; -.
DR TCDB; 1.A.9.5.7; the neurotransmitter receptor, cys loop, ligand-gated ion channel (lic) family.
DR GlyGen; P34903; 4 sites.
DR iPTMnet; P34903; -.
DR PhosphoSitePlus; P34903; -.
DR BioMuta; GABRA3; -.
DR DMDM; 462149; -.
DR EPD; P34903; -.
DR MassIVE; P34903; -.
DR PaxDb; P34903; -.
DR PeptideAtlas; P34903; -.
DR PRIDE; P34903; -.
DR ProteomicsDB; 54951; -.
DR Antibodypedia; 335; 222 antibodies from 30 providers.
DR DNASU; 2556; -.
DR Ensembl; ENST00000370314.9; ENSP00000359337.4; ENSG00000011677.13.
DR Ensembl; ENST00000535043.1; ENSP00000443527.1; ENSG00000011677.13.
DR GeneID; 2556; -.
DR KEGG; hsa:2556; -.
DR MANE-Select; ENST00000370314.9; ENSP00000359337.4; NM_000808.4; NP_000799.1.
DR UCSC; uc010ntk.2; human.
DR CTD; 2556; -.
DR DisGeNET; 2556; -.
DR GeneCards; GABRA3; -.
DR HGNC; HGNC:4077; GABRA3.
DR HPA; ENSG00000011677; Group enriched (brain, choroid plexus, retina).
DR MalaCards; GABRA3; -.
DR MIM; 305660; gene.
DR neXtProt; NX_P34903; -.
DR OpenTargets; ENSG00000011677; -.
DR Orphanet; 79102; Thyrotoxic periodic paralysis.
DR PharmGKB; PA28491; -.
DR VEuPathDB; HostDB:ENSG00000011677; -.
DR eggNOG; KOG3642; Eukaryota.
DR GeneTree; ENSGT00940000159444; -.
DR HOGENOM; CLU_010920_2_1_1; -.
DR InParanoid; P34903; -.
DR OMA; LTKKANN; -.
DR OrthoDB; 331262at2759; -.
DR PhylomeDB; P34903; -.
DR TreeFam; TF315453; -.
DR PathwayCommons; P34903; -.
DR Reactome; R-HSA-977443; GABA receptor activation.
DR SignaLink; P34903; -.
DR SIGNOR; P34903; -.
DR BioGRID-ORCS; 2556; 10 hits in 695 CRISPR screens.
DR ChiTaRS; GABRA3; human.
DR GeneWiki; GABRA3; -.
DR GenomeRNAi; 2556; -.
DR Pharos; P34903; Tclin.
DR PRO; PR:P34903; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P34903; protein.
DR Bgee; ENSG00000011677; Expressed in cortical plate and 80 other tissues.
DR Genevisible; P34903; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR GO; GO:0032590; C:dendrite membrane; IBA:GO_Central.
DR GO; GO:1902711; C:GABA-A receptor complex; IBA:GO_Central.
DR GO; GO:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0099060; C:integral component of postsynaptic specialization membrane; IEA:Ensembl.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0098794; C:postsynapse; IBA:GO_Central.
DR GO; GO:0045202; C:synapse; IBA:GO_Central.
DR GO; GO:0008503; F:benzodiazepine receptor activity; TAS:ProtInc.
DR GO; GO:0005231; F:excitatory extracellular ligand-gated ion channel activity; IBA:GO_Central.
DR GO; GO:0004890; F:GABA-A receptor activity; IEA:Ensembl.
DR GO; GO:0022851; F:GABA-gated chloride ion channel activity; IBA:GO_Central.
DR GO; GO:0005237; F:inhibitory extracellular ligand-gated ion channel activity; IBA:GO_Central.
DR GO; GO:0030594; F:neurotransmitter receptor activity; IBA:GO_Central.
DR GO; GO:1904315; F:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central.
DR GO; GO:0007268; P:chemical synaptic transmission; IBA:GO_Central.
DR GO; GO:1902476; P:chloride transmembrane transport; IBA:GO_Central.
DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IBA:GO_Central.
DR GO; GO:0034220; P:ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0050877; P:nervous system process; IBA:GO_Central.
DR GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central.
DR GO; GO:0060078; P:regulation of postsynaptic membrane potential; IBA:GO_Central.
DR GO; GO:0007165; P:signal transduction; IBA:GO_Central.
DR GO; GO:0051932; P:synaptic transmission, GABAergic; IBA:GO_Central.
DR Gene3D; 1.20.58.390; -; 1.
DR Gene3D; 2.70.170.10; -; 1.
DR InterPro; IPR006028; GABAA/Glycine_rcpt.
DR InterPro; IPR001390; GABAAa_rcpt.
DR InterPro; IPR005433; GABBAa3_rcpt.
DR InterPro; IPR006202; Neur_chan_lig-bd.
DR InterPro; IPR036734; Neur_chan_lig-bd_sf.
DR InterPro; IPR006201; Neur_channel.
DR InterPro; IPR036719; Neuro-gated_channel_TM_sf.
DR InterPro; IPR038050; Neuro_actylchol_rec.
DR InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR PANTHER; PTHR18945; PTHR18945; 1.
DR Pfam; PF02931; Neur_chan_LBD; 1.
DR Pfam; PF02932; Neur_chan_memb; 1.
DR PRINTS; PR01079; GABAARALPHA.
DR PRINTS; PR01616; GABAARALPHA3.
DR PRINTS; PR00253; GABAARECEPTR.
DR PRINTS; PR00252; NRIONCHANNEL.
DR SUPFAM; SSF63712; SSF63712; 1.
DR SUPFAM; SSF90112; SSF90112; 1.
DR TIGRFAMs; TIGR00860; LIC; 1.
DR PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Chloride; Chloride channel; Disulfide bond; Glycoprotein;
KW Ion channel; Ion transport; Ligand-gated ion channel; Membrane;
KW Phosphoprotein; Postsynaptic cell membrane; Receptor; Reference proteome;
KW Signal; Synapse; Transmembrane; Transmembrane helix; Transport.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..492
FT /note="Gamma-aminobutyric acid receptor subunit alpha-3"
FT /id="PRO_0000000437"
FT TOPO_DOM 29..276
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 277..298
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 304..325
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 338..359
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 360..457
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 458..479
FT /note="Helical"
FT /evidence="ECO:0000305"
FT REGION 28..54
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 426
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P26049"
FT MOD_RES 427
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P26049"
FT MOD_RES 433
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P26049"
FT MOD_RES 442
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P26049"
FT CARBOHYD 63
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 163
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 176
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 228
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 191..205
FT /evidence="ECO:0000250"
FT CONFLICT 180
FT /note="L -> P (in Ref. 3; AAH28629)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 492 AA; 55165 MW; 23A7390C9822691F CRC64;
MIITQTSHCY MTSLGILFLI NILPGTTGQG ESRRQEPGDF VKQDIGGLSP KHAPDIPDDS
TDNITIFTRI LDRLLDGYDN RLRPGLGDAV TEVKTDIYVT SFGPVSDTDM EYTIDVFFRQ
TWHDERLKFD GPMKILPLNN LLASKIWTPD TFFHNGKKSV AHNMTTPNKL LRLVDNGTLL
YTMRLTIHAE CPMHLEDFPM DVHACPLKFG SYAYTTAEVV YSWTLGKNKS VEVAQDGSRL
NQYDLLGHVV GTEIIRSSTG EYVVMTTHFH LKRKIGYFVI QTYLPCIMTV ILSQVSFWLN
RESVPARTVF GVTTVLTMTT LSISARNSLP KVAYATAMDW FIAVCYAFVF SALIEFATVN
YFTKRSWAWE GKKVPEALEM KKKTPAAPAK KTSTTFNIVG TTYPINLAKD TEFSTISKGA
APSASSTPTI IASPKATYVQ DSPTETKTYN SVSKVDKISR IIFPVLFAIF NLVYWATYVN
RESAIKGMIR KQ
