ID GBRA5_HUMAN Reviewed; 462 AA. AC P31644; Q14DC2; Q53XL6; Q9NYT3; Q9NYT4; Q9NYT5; DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot. DT 01-JUL-1993, sequence version 1. DT 25-NOV-2008, entry version 91. DE RecName: Full=Gamma-aminobutyric acid receptor subunit alpha-5; DE AltName: Full=GABA(A) receptor subunit alpha-5; DE Flags: Precursor; GN Name=GABRA5; 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]. RX MEDLINE=93271965; PubMed=8388764; DOI=10.1093/hmg/2.2.183; RA Knoll J.H., Sinnett D., Wagstaff J., Glatt K.A., Wilcox A.S., RA Whiting P.J., Wingrove P., Sikela J.M., Lalande M.; RT "FISH ordering of reference markers and of the gene for the alpha 5 RT subunit of the gamma-aminobutyric acid receptor (GABRA5) within the RT Angelman and Prader-Willi syndrome chromosomal regions."; RL Hum. Mol. Genet. 2:183-189(1993). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA]. RX MEDLINE=92339652; PubMed=1321750; RA Wingrove P., Hadingham K., Wafford K., Kemp J.A., Ragan C.I., RA Whiting P.; RT "Cloning and expression of a cDNA encoding the human GABA-A receptor RT alpha 5 subunit."; RL Biochem. Soc. Trans. 20:18S-18S(1992). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., RA Phelan M., Farmer A.; RT "Cloning of human full-length CDSs in BD Creator(TM) system donor RT vector."; RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases. RN [4] 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 [5] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 71-166; 195-241 AND 294-363. RA Kim S.-J., Gonen D., Yang Z.-Y., Reliford A., Dy A., Leventhal B.L., RA Cook E.H. Jr.; RT "Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 RT subunit gene (GABRA5)."; RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29. RC TISSUE=Fetal brain; RX MEDLINE=97349104; PubMed=9205108; DOI=10.1006/geno.1997.4770; RA Kim Y., Glatt H., Xie W., Sinnett D., Lalande M.; RT "Human gamma-aminobutyric acid-type A receptor alpha5 subunit gene RT (GABRA5): characterization and structural organization of the 5' RT flanking region."; RL Genomics 42:378-387(1997). RN [7] RP UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-355, AND MASS RP SPECTROMETRY. RX PubMed=17370265; DOI=10.1002/pmic.200600410; RA Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.; RT "Tryptic digestion of ubiquitin standards reveals an improved strategy RT for identifying ubiquitinated proteins by mass spectrometry."; RL Proteomics 7:868-874(2007). 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. 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"; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution-NoDerivs License CC ----------------------------------------------------------------------- DR EMBL; L08485; AAA58490.1; -; mRNA. DR EMBL; BT009830; AAP88832.1; -; mRNA. DR EMBL; BC111979; AAI11980.1; -; mRNA. DR EMBL; BC113422; AAI13423.1; -; mRNA. DR EMBL; AF228447; AAF62508.1; -; Genomic_DNA. DR EMBL; AF228448; AAF62509.1; -; Genomic_DNA. DR EMBL; AF228449; AAF62510.1; -; Genomic_DNA. DR EMBL; AF061785; AAC31809.1; -; Genomic_DNA. DR PIR; A48933; A48933. DR RefSeq; NP_000801.1; -. DR UniGene; Hs.612087; -. DR Ensembl; ENSG00000186297; Homo sapiens. DR GeneID; 2558; -. DR KEGG; hsa:2558; -. DR H-InvDB; HIX0026792; -. DR HGNC; HGNC:4079; GABRA5. DR MIM; 137142; gene. DR PharmGKB; PA28493; -. DR HOGENOM; P31644; -. DR HOVERGEN; P31644; -. 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; 10103; -. DR ArrayExpress; P31644; -. DR CleanEx; HS_GABRA5; -. DR GermOnline; ENSG00000186297; Homo sapiens. DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW. DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc. DR GO; GO:0045211; C:postsynaptic membrane; IEA:InterPro. 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:0030594; F:neurotransmitter 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; IPR005435; GABBAa5_rcpt. DR InterPro; IPR006029; Neu_channel_TM. DR InterPro; IPR006202; Neur_chan_lig_bd. DR InterPro; IPR006201; Neur_channel. 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; PR01618; GABAARALPHA5. DR PRINTS; PR00253; GABAARECEPTR. DR PRINTS; PR00252; NRIONCHANNEL. 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 Glycoprotein; Ion transport; Ionic channel; Membrane; KW Postsynaptic cell membrane; Signal; Synapse; Transmembrane; Transport; KW Ubl conjugation. FT SIGNAL 1 31 Potential. FT CHAIN 32 462 Gamma-aminobutyric acid receptor subunit FT alpha-5. FT /FTId=PRO_0000000444. FT TOPO_DOM 32 259 Extracellular (Potential). FT TRANSMEM 260 281 Potential. FT TRANSMEM 286 307 Potential. FT TRANSMEM 319 341 Potential. FT TOPO_DOM 342 427 Cytoplasmic (Potential). FT TRANSMEM 428 449 Potential. FT CARBOHYD 45 45 N-linked (GlcNAc...) (Potential). FT CARBOHYD 145 145 N-linked (GlcNAc...) (Potential). FT CARBOHYD 207 207 N-linked (GlcNAc...) (Potential). FT CARBOHYD 236 236 N-linked (GlcNAc...) (Potential). FT DISULFID 173 187 By similarity. FT CROSSLNK 355 355 Glycyl lysine isopeptide (Lys-Gly) FT (interchain with G-Cter in ubiquitin). SQ SEQUENCE 462 AA; 52146 MW; 260A8B554113AFF9 CRC64; MDNGMFSGFI MIKNLLLFCI SMNLSSHFGF SQMPTSSVKD ETNDNITIFT RILDGLLDGY DNRLRPGLGE RITQVRTDIY VTSFGPVSDT EMEYTIDVFF RQSWKDERLR FKGPMQRLPL NNLLASKIWT PDTFFHNGKK SIAHNMTTPN KLLRLEDDGT LLYTMRLTIS AECPMQLEDF PMDAHACPLK FGSYAYPNSE VVYVWTNGST KSVVVAEDGS RLNQYHLMGQ TVGTENISTS TGEYTIMTAH FHLKRKIGYF VIQTYLPCIM TVILSQVSFW LNRESVPART VFGVTTVLTM TTLSISARNS LPKVAYATAM DWFIAVCYAF VFSALIEFAT VNYFTKRGWA WDGKKALEAA KIKKKREVIL NKSTNAFTTG KMSHPPNIPK EQTPAGTSNT TSVSVKPSEE KTSESKKTYN SISKIDKMSR IVFPVLFGTF NLVYWATYLN REPVIKGAAS PK //