ID   GBRA6_HUMAN             Reviewed;         453 AA.
AC   Q16445; Q4VAV2;
DT   01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT   20-FEB-2007, sequence version 2.
DT   07-JUL-2009, entry version 82.
DE   RecName: Full=Gamma-aminobutyric acid receptor subunit alpha-6;
DE   AltName: Full=GABA(A) receptor subunit alpha-6;
DE   Flags: Precursor;
GN   Name=GABRA6;
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=Cerebellum;
RX   MEDLINE=96226062; PubMed=8632757;
RA   Hadingham K.L., Garrett E.M., Wafford K.A., Bain C., Heavens R.P.,
RA   Sirinathsinghji D.J., Whiting P.J.;
RT   "Cloning of cDNAs encoding the human gamma-aminobutyric acid type A
RT   receptor alpha 6 subunit and characterization of the pharmacology of
RT   alpha 6-containing receptors.";
RL   Mol. Pharmacol. 49:253-259(1996).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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   [3]
RP   VARIANT [LARGE SCALE ANALYSIS] HIS-180.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
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: Binds UBQLN1 (By similarity). Generally pentameric. There
CC       are five types of GABA(A) receptor chains: alpha, beta, gamma,
CC       delta, and rho.
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 ionic channel (TC 1.A.9)
CC       family.
CC   -!- WEB RESOURCE: Name=Protein Spotlight; Note=Forbidden fruit - Issue
CC       56 of March 2005;
CC       URL="http://www.expasy.org/spotlight/back_issues/sptlt056.shtml";
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DR   EMBL; S81944; AAB36480.1; -; mRNA.
DR   EMBL; BC096241; AAH96241.1; -; mRNA.
DR   EMBL; BC096242; AAH96242.1; -; mRNA.
DR   EMBL; BC099640; AAH99640.1; -; mRNA.
DR   EMBL; BC099641; AAH99641.1; -; mRNA.
DR   IPI; IPI00002215; -.
DR   RefSeq; NP_000802.2; -.
DR   UniGene; Hs.90791; -.
DR   PhosphoSite; Q16445; -.
DR   PRIDE; Q16445; -.
DR   Ensembl; ENSG00000145863; Homo sapiens.
DR   GeneID; 2559; -.
DR   KEGG; hsa:2559; -.
DR   NMPDR; fig|9606.3.peg.26114; -.
DR   UCSC; uc003lyu.2; human.
DR   GeneCards; GC05P161045; -.
DR   H-InvDB; HIX0005382; -.
DR   HGNC; HGNC:4080; GABRA6.
DR   MIM; 137143; gene.
DR   PharmGKB; PA28494; -.
DR   HOGENOM; Q16445; -.
DR   HOVERGEN; Q16445; -.
DR   OMA; Q16445; NTINGGR.
DR   DrugBank; DB00404; Alprazolam.
DR   DrugBank; DB00189; Ethchlorvynol.
DR   DrugBank; DB01544; Flunitrazepam.
DR   DrugBank; DB00690; Flurazepam.
DR   DrugBank; DB00186; Lorazepam.
DR   DrugBank; DB00371; Meprobamate.
DR   DrugBank; DB00683; Midazolam.
DR   NextBio; 10107; -.
DR   ArrayExpress; Q16445; -.
DR   Bgee; Q16445; -.
DR   CleanEx; HS_GABRA6; -.
DR   GermOnline; ENSG00000145863; Homo sapiens.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-SubCell.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
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:0031404; F:chloride ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0005230; F:extracellular ligand-gated ion channel acti...; IEA:InterPro.
DR   GO; GO:0004890; F:GABA-A receptor activity; IEA:InterPro.
DR   GO; GO:0006821; P:chloride transport; IEA:InterPro.
DR   GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IEA:InterPro.
DR   InterPro; IPR006028; GABAA_rcpt.
DR   InterPro; IPR001390; GABAAa_rcpt.
DR   InterPro; IPR005436; GABBAa6_rcpt.
DR   InterPro; IPR006029; Neu_channel_TM.
DR   InterPro; IPR006202; Neur_chan_lig_bd.
DR   InterPro; IPR006201; Neur_channel.
DR   InterPro; IPR018000; Neurotransmitter_ion_chnl_CS.
DR   Gene3D; G3DSA:2.70.170.10; Neur_chan_lig_bd; 1.
DR   PANTHER; PTHR18945; Neur_channel; 1.
DR   Pfam; PF02931; Neur_chan_LBD; 1.
DR   Pfam; PF02932; Neur_chan_memb; 1.
DR   PRINTS; PR01079; GABAARALPHA.
DR   PRINTS; PR01619; GABAARALPHA6.
DR   PRINTS; PR00253; GABAARECEPTR.
DR   PRINTS; PR00252; NRIONCHANNEL.
DR   TIGRFAMs; TIGR00860; LIC; 1.
DR   PROSITE; PS00236; NEUROTR_ION_CHANNEL; 1.
PE   2: Evidence at transcript level;
KW   Cell junction; Cell membrane; Chloride; Chloride channel;
KW   Complete proteome; Disulfide bond; Glycoprotein; Ion transport;
KW   Ionic channel; Membrane; Polymorphism; Postsynaptic cell membrane;
KW   Signal; Synapse; Transmembrane; Transport.
FT   SIGNAL        1     19       Potential.
FT   CHAIN        20    453       Gamma-aminobutyric acid receptor subunit
FT                                alpha-6.
FT                                /FTId=PRO_0000000447.
FT   TOPO_DOM     20    242       Extracellular (Probable).
FT   TRANSMEM    243    264       Probable.
FT   TRANSMEM    269    290       Probable.
FT   TRANSMEM    301    324       Probable.
FT   TOPO_DOM    325    419       Cytoplasmic (Probable).
FT   TRANSMEM    420    441       Probable.
FT   CARBOHYD     31     31       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    128    128       N-linked (GlcNAc...) (Potential).
FT   CARBOHYD    141    141       N-linked (GlcNAc...) (Potential).
FT   DISULFID    156    170       By similarity.
FT   VARIANT     180    180       P -> H (in a colorectal cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_036033.
FT   VARIANT     187    187       T -> M (in dbSNP:rs3811993).
FT                                /FTId=VAR_036782.
FT   VARIANT     404    404       P -> S (in dbSNP:rs34907804).
FT                                /FTId=VAR_036783.
FT   CONFLICT    408    408       S -> P (in Ref. 1; AAB36480).
SQ   SEQUENCE   453 AA;  51024 MW;  5C9F85845BC8E3B0 CRC64;
     MASSLPWLCI ILWLENALGK LEVEGNFYSE NVSRILDNLL EGYDNRLRPG FGGAVTEVKT
     DIYVTSFGPV SDVEMEYTMD VFFRQTWTDE RLKFGGPTEI LSLNNLMVSK IWTPDTFFRN
     GKKSIAHNMT TPNKLFRIMQ NGTILYTMRL TINADCPMRL VNFPMDGHAC PLKFGSYAYP
     KSEIIYTWKK GPLYSVEVPE ESSSLLQYDL IGQTVSSETI KSNTGEYVIM TVYFHLQRKM
     GYFMIQIYTP CIMTVILSQV SFWINKESVP ARTVFGITTV LTMTTLSISA RHSLPKVSYA
     TAMDWFIAVC FAFVFSALIE FAAVNYFTNL QTQKAKRKAQ FAAPPTVTIS KATEPLEAEI
     VLHPDSKYHL KKRITSLSLP IVSSSEANKV LTRAPILQST PVTPPPLSPA FGGTSKIDQY
     SRILFPVAFA GFNLVYWVVY LSKDTMEVSS SVE
//