ID E7EV53_HUMAN Unreviewed; 443 AA. AC E7EV53; DT 08-MAR-2011, integrated into UniProtKB/TrEMBL. DT 08-MAR-2011, sequence version 1. DT 05-DEC-2018, entry version 56. DE SubName: Full=Gamma-aminobutyric acid receptor subunit alpha-6 {ECO:0000313|Ensembl:ENSP00000430527}; GN Name=GABRA6 {ECO:0000313|Ensembl:ENSP00000430527}; 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 {ECO:0000313|Ensembl:ENSP00000430527, ECO:0000313|Proteomes:UP000005640}; RN [1] {ECO:0000313|Ensembl:ENSP00000430527, ECO:0000313|Proteomes:UP000005640} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15372022; DOI=10.1038/nature02919; RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S., RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., RA Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., RA Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., RA Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., RA Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., RA Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., RA Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., RA Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., RA Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., RA Richardson P., Lucas S.M., Myers R.M., Rubin E.M.; RT "The DNA sequence and comparative analysis of human chromosome 5."; RL Nature 431:268-274(2004). RN [2] {ECO:0000313|Ensembl:ENSP00000430527} RP IDENTIFICATION. RG Ensembl; RL Submitted (JUL-2011) to UniProtKB. CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) CC family. {ECO:0000256|RuleBase:RU000687, CC ECO:0000256|SAAS:SAAS00978283}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; AC091944; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC091989; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR ProteinModelPortal; E7EV53; -. DR PRIDE; E7EV53; -. DR Ensembl; ENST00000523217; ENSP00000430527; ENSG00000145863. DR UCSC; uc063jhj.1; human. DR EuPathDB; HostDB:ENSG00000145863.10; -. DR HGNC; HGNC:4080; GABRA6. DR OpenTargets; ENSG00000145863; -. DR eggNOG; KOG3642; Eukaryota. DR eggNOG; ENOG410XNQG; LUCA. DR GeneTree; ENSGT00940000156722; -. DR Proteomes; UP000005640; Chromosome 5. DR Bgee; ENSG00000145863; Expressed in 56 organ(s), highest expression level in cerebellar hemisphere. DR ExpressionAtlas; E7EV53; baseline and differential. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR GO; GO:0005886; C:plasma membrane; 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:0006821; P:chloride transport; IEA:InterPro. DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IEA:InterPro. 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; 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 3: Inferred from homology; KW Cell membrane {ECO:0000256|SAAS:SAAS00081375}; KW Complete proteome {ECO:0000313|Proteomes:UP000005640}; KW Disulfide bond {ECO:0000256|SAAS:SAAS00766067}; KW Ion channel {ECO:0000256|RuleBase:RU000687, KW ECO:0000256|SAAS:SAAS00457629}; KW Ion transport {ECO:0000256|RuleBase:RU000687, KW ECO:0000256|SAAS:SAAS00457629}; KW Membrane {ECO:0000256|SAAS:SAAS00081375, KW ECO:0000256|SAAS:SAAS00978768, ECO:0000256|SAM:Phobius}; KW Reference proteome {ECO:0000313|Proteomes:UP000005640}; KW Signal {ECO:0000256|SAM:SignalP}; KW Transmembrane {ECO:0000256|SAAS:SAAS00978768, KW ECO:0000256|SAM:Phobius}; KW Transmembrane helix {ECO:0000256|SAAS:SAAS00978768, KW ECO:0000256|SAM:Phobius}; KW Transport {ECO:0000256|RuleBase:RU000687, KW ECO:0000256|SAAS:SAAS00457629}. FT SIGNAL 1 19 {ECO:0000256|SAM:SignalP}. FT CHAIN 20 443 {ECO:0000256|SAM:SignalP}. FT /FTId=PRO_5003219020. FT TRANSMEM 230 252 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 264 283 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 295 318 Helical. {ECO:0000256|SAM:Phobius}. FT TRANSMEM 413 432 Helical. {ECO:0000256|SAM:Phobius}. FT DOMAIN 33 230 Neur_chan_LBD. FT {ECO:0000259|Pfam:PF02931}. FT DOMAIN 237 329 Neur_chan_memb. FT {ECO:0000259|Pfam:PF02932}. SQ SEQUENCE 443 AA; 49707 MW; 3626EB41E2CE2E19 CRC64; MASSLPWLCI ILWLENALGK LEVEGNFYSE NVSRILDNLL EGYDNRLRPG FGGAVTEVKT DIYVTSFGPV SDVEMTWTDE 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 //