GBRA6_HUMAN
ID GBRA6_HUMAN Reviewed; 453 AA.
AC Q16445; A8K096; Q4VAV2;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 2.
DT 03-AUG-2022, entry version 190.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Cerebellum;
RX 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 alpha
RT 6-containing receptors.";
RL Mol. Pharmacol. 49:253-259(1996).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
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., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
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: Binds UBQLN1 (By similarity). Generally pentameric. There are
CC five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and
CC rho. {ECO:0000250}.
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. GABRA6 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; S81944; AAB36480.1; -; mRNA.
DR EMBL; AK289461; BAF82150.1; -; mRNA.
DR EMBL; CH471062; EAW61542.1; -; Genomic_DNA.
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 CCDS; CCDS4356.1; -.
DR RefSeq; NP_000802.2; NM_000811.2.
DR AlphaFoldDB; Q16445; -.
DR SMR; Q16445; -.
DR BioGRID; 108833; 20.
DR ComplexPortal; CPX-2164; GABA-A receptor, alpha-6/beta-3/gamma-2.
DR ComplexPortal; CPX-2951; GABA-A receptor, alpha-6/beta-3/delta.
DR ComplexPortal; CPX-2952; GABA-A receptor, alpha-6/beta-2/delta.
DR IntAct; Q16445; 11.
DR STRING; 9606.ENSP00000274545; -.
DR BindingDB; Q16445; -.
DR ChEMBL; CHEMBL2579; -.
DR DrugBank; DB12537; 1,2-Benzodiazepine.
DR DrugBank; DB00546; Adinazolam.
DR DrugBank; DB00404; Alprazolam.
DR DrugBank; DB01351; Amobarbital.
DR DrugBank; DB00543; Amoxapine.
DR DrugBank; DB11901; Apalutamide.
DR DrugBank; DB01352; Aprobarbital.
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; 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; 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; DB00842; Oxazepam.
DR DrugBank; DB14672; Oxazepam acetate.
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 DrugCentral; Q16445; -.
DR GuidetoPHARMACOLOGY; 409; -.
DR GlyGen; Q16445; 3 sites.
DR iPTMnet; Q16445; -.
DR PhosphoSitePlus; Q16445; -.
DR BioMuta; GABRA6; -.
DR DMDM; 126302548; -.
DR MassIVE; Q16445; -.
DR PaxDb; Q16445; -.
DR PeptideAtlas; Q16445; -.
DR PRIDE; Q16445; -.
DR Antibodypedia; 28560; 212 antibodies from 33 providers.
DR DNASU; 2559; -.
DR Ensembl; ENST00000274545.10; ENSP00000274545.5; ENSG00000145863.11.
DR GeneID; 2559; -.
DR KEGG; hsa:2559; -.
DR MANE-Select; ENST00000274545.10; ENSP00000274545.5; NM_000811.3; NP_000802.2.
DR UCSC; uc003lyu.3; human.
DR CTD; 2559; -.
DR DisGeNET; 2559; -.
DR GeneCards; GABRA6; -.
DR HGNC; HGNC:4080; GABRA6.
DR HPA; ENSG00000145863; Tissue enriched (brain).
DR MIM; 137143; gene.
DR neXtProt; NX_Q16445; -.
DR OpenTargets; ENSG00000145863; -.
DR PharmGKB; PA28494; -.
DR VEuPathDB; HostDB:ENSG00000145863; -.
DR eggNOG; KOG3642; Eukaryota.
DR GeneTree; ENSGT00940000156722; -.
DR HOGENOM; CLU_010920_2_2_1; -.
DR InParanoid; Q16445; -.
DR OMA; YIILWVE; -.
DR OrthoDB; 783081at2759; -.
DR PhylomeDB; Q16445; -.
DR TreeFam; TF315453; -.
DR PathwayCommons; Q16445; -.
DR Reactome; R-HSA-977443; GABA receptor activation.
DR SignaLink; Q16445; -.
DR SIGNOR; Q16445; -.
DR BioGRID-ORCS; 2559; 5 hits in 1066 CRISPR screens.
DR ChiTaRS; GABRA6; human.
DR GeneWiki; GABRA6; -.
DR GenomeRNAi; 2559; -.
DR Pharos; Q16445; Tclin.
DR PRO; PR:Q16445; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q16445; protein.
DR Bgee; ENSG00000145863; Expressed in cerebellar vermis and 83 other tissues.
DR ExpressionAtlas; Q16445; baseline and differential.
DR Genevisible; Q16445; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0099192; C:cerebellar Golgi cell to granule cell synapse; IEA:Ensembl.
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:0005887; C:integral component of plasma membrane; IBA:GO_Central.
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:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell.
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:InterPro.
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; IPR005436; GABBAa6_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; PR01619; GABAARALPHA6.
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 2: Evidence at transcript 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..19
FT /evidence="ECO:0000255"
FT CHAIN 20..453
FT /note="Gamma-aminobutyric acid receptor subunit alpha-6"
FT /id="PRO_0000000447"
FT TOPO_DOM 20..242
FT /note="Extracellular"
FT /evidence="ECO:0000305"
FT TRANSMEM 243..264
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 269..290
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TRANSMEM 301..324
FT /note="Helical"
FT /evidence="ECO:0000305"
FT TOPO_DOM 325..419
FT /note="Cytoplasmic"
FT /evidence="ECO:0000305"
FT TRANSMEM 420..441
FT /note="Helical"
FT /evidence="ECO:0000305"
FT MOD_RES 403
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P30191"
FT CARBOHYD 31
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 128
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 141
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 156..170
FT /evidence="ECO:0000250"
FT VARIANT 180
FT /note="P -> H (in a colorectal cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036033"
FT VARIANT 187
FT /note="T -> M (in dbSNP:rs3811993)"
FT /id="VAR_036782"
FT VARIANT 404
FT /note="P -> S (in dbSNP:rs34907804)"
FT /id="VAR_036783"
FT CONFLICT 408
FT /note="S -> P (in Ref. 1; AAB36480)"
FT /evidence="ECO:0000305"
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
