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 02-NOV-2016, entry version 165.
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;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; 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.,
RA Ragan C.I., 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
RT 3-, 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>3.3.CO;2-N;
RA Amir R., Dahle E.J., Toriolo D., Zoghbi H.Y.;
RT "Candidate gene analysis in Rett syndrome and the identification of 21
RT SNPs 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
RT project: 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.,
RA 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
CC vertebrate brain, mediates neuronal inhibition by binding to the
CC GABA/benzodiazepine receptor and opening an integral chloride
CC channel.
CC -!- SUBUNIT: Generally pentameric. There are five types of GABA(A)
CC receptor chains: alpha, beta, gamma, delta, and rho. Binds UBQLN1
CC (By similarity). Interacts with GPHN (PubMed:26613940).
CC {ECO:0000250|UniProtKB:P26049, ECO:0000269|PubMed:26613940}.
CC -!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell
CC membrane; Multi-pass membrane protein. Cell membrane; Multi-pass
CC membrane protein.
CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9)
CC family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily.
CC GABRA3 sub-subfamily. {ECO:0000305}.
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue
CC 56 of March 2005;
CC URL="http://web.expasy.org/spotlight/back_issues/056";
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 UniGene; Hs.123024; -.
DR ProteinModelPortal; P34903; -.
DR BioGrid; 108830; 20.
DR IntAct; P34903; 3.
DR MINT; MINT-7242442; -.
DR STRING; 9606.ENSP00000359334; -.
DR BindingDB; P34903; -.
DR ChEMBL; CHEMBL3026; -.
DR DrugBank; DB00659; Acamprosate.
DR DrugBank; DB00546; Adinazolam.
DR DrugBank; DB00404; Alprazolam.
DR DrugBank; DB01351; Amobarbital.
DR DrugBank; DB00543; Amoxapine.
DR DrugBank; DB01352; Aprobarbital.
DR DrugBank; DB01558; Bromazepam.
DR DrugBank; DB00237; Butabarbital.
DR DrugBank; DB00241; Butalbital.
DR DrugBank; DB01353; Butethal.
DR DrugBank; DB00475; Chlordiazepoxide.
DR DrugBank; DB01594; Cinolazepam.
DR DrugBank; DB00349; Clobazam.
DR DrugBank; DB01068; Clonazepam.
DR DrugBank; DB00628; Clorazepate.
DR DrugBank; DB01559; Clotiazepam.
DR DrugBank; DB01189; Desflurane.
DR DrugBank; DB00829; Diazepam.
DR DrugBank; DB00228; Enflurane.
DR DrugBank; DB01049; Ergoloid mesylate.
DR DrugBank; DB01215; Estazolam.
DR DrugBank; DB00402; Eszopiclone.
DR DrugBank; DB00898; Ethanol.
DR DrugBank; DB00189; Ethchlorvynol.
DR DrugBank; DB00292; Etomidate.
DR DrugBank; DB01567; Fludiazepam.
DR DrugBank; DB01205; Flumazenil.
DR DrugBank; DB01544; Flunitrazepam.
DR DrugBank; DB00690; Flurazepam.
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; DB00186; Lorazepam.
DR DrugBank; DB00371; Meprobamate.
DR DrugBank; DB01028; Methoxyflurane.
DR DrugBank; DB00849; Methylphenobarbital.
DR DrugBank; DB01107; Methyprylon.
DR DrugBank; DB00683; Midazolam.
DR DrugBank; DB01595; Nitrazepam.
DR DrugBank; DB00334; Olanzapine.
DR DrugBank; DB00842; Oxazepam.
DR DrugBank; DB00312; Pentobarbital.
DR DrugBank; DB01588; Prazepam.
DR DrugBank; DB00794; Primidone.
DR DrugBank; DB00818; Propofol.
DR DrugBank; DB01589; Quazepam.
DR DrugBank; DB00418; Secobarbital.
DR DrugBank; DB01236; Sevoflurane.
DR DrugBank; DB00306; Talbutal.
DR DrugBank; DB00231; Temazepam.
DR DrugBank; DB00599; Thiopental.
DR DrugBank; DB00273; Topiramate.
DR DrugBank; DB00897; Triazolam.
DR DrugBank; DB00425; Zolpidem.
DR DrugBank; DB01198; Zopiclone.
DR GuidetoPHARMACOLOGY; 406; -.
DR iPTMnet; P34903; -.
DR PhosphoSitePlus; P34903; -.
DR BioMuta; GABRA3; -.
DR DMDM; 462149; -.
DR EPD; P34903; -.
DR PaxDb; P34903; -.
DR PeptideAtlas; P34903; -.
DR PRIDE; P34903; -.
DR DNASU; 2556; -.
DR Ensembl; ENST00000370314; ENSP00000359337; ENSG00000011677.
DR Ensembl; ENST00000535043; ENSP00000443527; ENSG00000011677.
DR GeneID; 2556; -.
DR KEGG; hsa:2556; -.
DR UCSC; uc010ntk.2; human.
DR CTD; 2556; -.
DR DisGeNET; 2556; -.
DR GeneCards; GABRA3; -.
DR HGNC; HGNC:4077; GABRA3.
DR HPA; HPA000839; -.
DR MalaCards; GABRA3; -.
DR MIM; 305660; gene.
DR neXtProt; NX_P34903; -.
DR OpenTargets; ENSG00000011677; -.
DR Orphanet; 79102; Thyrotoxic periodic paralysis.
DR PharmGKB; PA28491; -.
DR eggNOG; KOG3642; Eukaryota.
DR eggNOG; ENOG410XNQG; LUCA.
DR GeneTree; ENSGT00760000119010; -.
DR HOGENOM; HOG000231337; -.
DR HOVERGEN; HBG051707; -.
DR InParanoid; P34903; -.
DR KO; K05175; -.
DR OMA; YNIVGTT; -.
DR OrthoDB; EOG091G0805; -.
DR PhylomeDB; P34903; -.
DR TreeFam; TF315453; -.
DR BioCyc; ZFISH:ENSG00000011677-MONOMER; -.
DR Reactome; R-HSA-112314; Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell.
DR Reactome; R-HSA-975298; Ligand-gated ion channel transport.
DR Reactome; R-HSA-977441; GABA A receptor activation.
DR ChiTaRS; GABRA3; human.
DR GeneWiki; GABRA3; -.
DR GenomeRNAi; 2556; -.
DR PRO; PR:P34903; -.
DR Proteomes; UP000005640; Chromosome X.
DR Bgee; ENSG00000011677; -.
DR CleanEx; HS_GABRA3; -.
DR Genevisible; P34903; HS.
DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR GO; GO:1902711; C:GABA-A receptor complex; IBA:GO_Central.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0008503; F:benzodiazepine receptor activity; TAS:ProtInc.
DR GO; GO:0005254; F:chloride channel activity; IEA:UniProtKB-KW.
DR GO; GO:0005230; F:extracellular ligand-gated ion channel activity; IEA:InterPro.
DR GO; GO:0004890; F:GABA-A receptor activity; IEA:InterPro.
DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; TAS:ProtInc.
DR GO; GO:0034220; P:ion transmembrane transport; TAS:Reactome.
DR GO; GO:0006810; P:transport; TAS:ProtInc.
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; IPR006201; Neur_channel.
DR InterPro; IPR006029; Neurotrans-gated_channel_TM.
DR InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR PANTHER; PTHR18945; PTHR18945; 2.
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 junction; Cell membrane; Chloride; Chloride channel;
KW Complete proteome; Disulfide bond; Glycoprotein; Ion channel;
KW Ion transport; Ligand-gated ion channel; Membrane; Phosphoprotein;
KW Postsynaptic cell membrane; Receptor; Reference proteome; Signal;
KW Synapse; Transmembrane; Transmembrane helix; Transport.
FT SIGNAL 1 28 {ECO:0000255}.
FT CHAIN 29 492 Gamma-aminobutyric acid receptor subunit
FT alpha-3.
FT /FTId=PRO_0000000437.
FT TOPO_DOM 29 276 Extracellular. {ECO:0000305}.
FT TRANSMEM 277 298 Helical. {ECO:0000305}.
FT TRANSMEM 304 325 Helical. {ECO:0000305}.
FT TRANSMEM 338 359 Helical. {ECO:0000305}.
FT TOPO_DOM 360 457 Cytoplasmic. {ECO:0000305}.
FT TRANSMEM 458 479 Helical. {ECO:0000305}.
FT MOD_RES 426 426 Phosphoserine.
FT {ECO:0000250|UniProtKB:P26049}.
FT MOD_RES 427 427 Phosphothreonine.
FT {ECO:0000250|UniProtKB:P26049}.
FT MOD_RES 433 433 Phosphoserine.
FT {ECO:0000250|UniProtKB:P26049}.
FT MOD_RES 442 442 Phosphoserine.
FT {ECO:0000250|UniProtKB:P26049}.
FT CARBOHYD 63 63 N-linked (GlcNAc...). {ECO:0000255}.
FT CARBOHYD 163 163 N-linked (GlcNAc...). {ECO:0000255}.
FT CARBOHYD 176 176 N-linked (GlcNAc...). {ECO:0000255}.
FT CARBOHYD 228 228 N-linked (GlcNAc...). {ECO:0000255}.
FT DISULFID 191 205 {ECO:0000250}.
FT CONFLICT 180 180 L -> P (in Ref. 3; AAH28629).
FT {ECO:0000305}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 282 367 ipfam:Neur_chan_memb [T]
FT MYHIT 191 205 ipat:NEUROTR_ION_CHANNEL [T]
FT MYHIT 68 274 ipfam:Neur_chan_LBD [T]
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
//
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