GBRA5_HUMAN
ID GBRA5_HUMAN Reviewed; 462 AA.
AC P31644; A8K338; Q14DC2; Q53XL6; Q9NYT3; Q9NYT4; Q9NYT5;
DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
DT 01-JUL-1993, sequence version 1.
DT 03-AUG-2022, entry version 206.
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 {ECO:0000312|HGNC:HGNC:4079};
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].
RX PubMed=8388764; DOI=10.1093/hmg/2.2.183;
RA Knoll J.H., Sinnett D., Wagstaff J., Glatt K.A., Wilcox A.S., Whiting P.J.,
RA Wingrove P., Sikela J.M., Lalande M.;
RT "FISH ordering of reference markers and of the gene for the alpha 5 subunit
RT of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and
RT Prader-Willi syndrome chromosomal regions.";
RL Hum. Mol. Genet. 2:183-189(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=1321750; DOI=10.1042/bst020018s;
RA Wingrove P., Hadingham K., Wafford K., Kemp J.A., Ragan C.I., Whiting P.;
RT "Cloning and expression of a cDNA encoding the human GABA-A receptor alpha
RT 5 subunit.";
RL Biochem. Soc. Trans. 20:18S-18S(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [4]
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 vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-29.
RC TISSUE=Fetal brain;
RX 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' flanking
RT region.";
RL Genomics 42:378-387(1997).
RN [7]
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 subunit
RT gene (GABRA5).";
RL Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-355, AND IDENTIFICATION BY
RP MASS SPECTROMETRY.
RC TISSUE=Mammary cancer;
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 for
RT identifying ubiquitinated proteins by mass spectrometry.";
RL Proteomics 7:868-874(2007).
RN [9]
RP FUNCTION, INVOLVEMENT IN DEE79, VARIANT DEE79 LEU-294, AND CHARACTERIZATION
RP OF VARIANT DEE79 LEU-294.
RX PubMed=29961870; DOI=10.1093/brain/awy171;
RA Butler K.M., Moody O.A., Schuler E., Coryell J., Alexander J.J.,
RA Jenkins A., Escayg A.;
RT "De novo variants in GABRA2 and GABRA5 alter receptor function and
RT contribute to early-onset epilepsy.";
RL Brain 141:2392-2405(2018).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN DEE79, VARIANTS DEE79
RP PHE-294 AND PHE-413, AND CHARACTERIZATION OF VARIANTS DEE79 PHE-294 AND
RP PHE-413.
RX PubMed=31056671; DOI=10.1093/brain/awz123;
RA Hernandez C.C., Xiang Wei W., Hu N., Shen D., Shen W., Lagrange A.H.,
RA Zhang Y., Dai L., Ding C., Sun Z., Hu J., Zhu H., Jiang Y., Macdonald R.L.;
RT "Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations
RT associated with early onset epileptic encephalopathies.";
RL Brain 142:1938-1954(2019).
CC -!- FUNCTION: Ligand-gated chloride channel subunit which is a component of
CC the heteropentameric receptor for GABA, the major inhibitory
CC neurotransmitter in the brain (PubMed:29961870, PubMed:31056671). May
CC be involved in GABA-A receptor assembly, and GABA-A receptor
CC immobilization and accumulation by gephyrin at the synapse
CC (PubMed:31056671). {ECO:0000269|PubMed:29961870,
CC ECO:0000269|PubMed:31056671}.
CC -!- SUBUNIT: Generally pentameric. There are five types of GABA(A) receptor
CC subunits: alpha, beta, gamma, delta, and rho.
CC -!- SUBCELLULAR LOCATION: Postsynaptic cell membrane
CC {ECO:0000269|PubMed:31056671}; Multi-pass membrane protein. Cell
CC membrane {ECO:0000269|PubMed:31056671}; Multi-pass membrane protein.
CC -!- DISEASE: Developmental and epileptic encephalopathy 79 (DEE79)
CC [MIM:618559]: A form of epileptic encephalopathy, a heterogeneous group
CC of severe early-onset epilepsies characterized by refractory seizures,
CC neurodevelopmental impairment, and poor prognosis. Development is
CC normal prior to seizure onset, after which cognitive and motor delays
CC become apparent. DEE79 is an autosomal dominant form characterized by
CC onset of refractory seizures in the first months of life. Brain imaging
CC may show hypomyelination, cerebral atrophy and thinning of the corpus
CC callosum. {ECO:0000269|PubMed:29961870, ECO:0000269|PubMed:31056671}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
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. GABRA5 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; L08485; AAA58490.1; -; mRNA.
DR EMBL; AK290453; BAF83142.1; -; mRNA.
DR EMBL; BT009830; AAP88832.1; -; mRNA.
DR EMBL; BC111979; AAI11980.1; -; mRNA.
DR EMBL; BC113422; AAI13423.1; -; mRNA.
DR EMBL; AF061785; AAC31809.1; -; Genomic_DNA.
DR EMBL; AF228447; AAF62508.1; -; Genomic_DNA.
DR EMBL; AF228448; AAF62509.1; -; Genomic_DNA.
DR EMBL; AF228449; AAF62510.1; -; Genomic_DNA.
DR CCDS; CCDS45194.1; -.
DR PIR; A48933; A48933.
DR RefSeq; NP_000801.1; NM_000810.3.
DR RefSeq; NP_001158509.1; NM_001165037.1.
DR RefSeq; XP_005268315.1; XM_005268258.2.
DR RefSeq; XP_006720522.1; XM_006720459.2.
DR PDB; 5O8F; X-ray; 3.20 A; A/B/C/D/E=261-346, A/B/C/D/E=424-462.
DR PDB; 5OJM; X-ray; 3.30 A; A/B/C/D/E=257-346, A/B/C/D/E=424-462.
DR PDB; 6A96; EM; 3.51 A; A=1-346, A=424-462.
DR PDBsum; 5O8F; -.
DR PDBsum; 5OJM; -.
DR PDBsum; 6A96; -.
DR AlphaFoldDB; P31644; -.
DR SMR; P31644; -.
DR BioGRID; 108832; 6.
DR ComplexPortal; CPX-2168; GABA-A receptor, alpha-5/beta-3/gamma-2.
DR IntAct; P31644; 1.
DR STRING; 9606.ENSP00000335592; -.
DR BindingDB; P31644; -.
DR ChEMBL; CHEMBL5112; -.
DR DrugBank; DB12537; 1,2-Benzodiazepine.
DR DrugBank; DB00546; Adinazolam.
DR DrugBank; DB06579; Adipiplon.
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; DB00395; Carisoprodol.
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; DB01567; Fludiazepam.
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; DB00334; Olanzapine.
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 DrugBank; DB01198; Zopiclone.
DR DrugCentral; P31644; -.
DR GuidetoPHARMACOLOGY; 408; -.
DR GlyGen; P31644; 5 sites, 1 O-linked glycan (1 site).
DR iPTMnet; P31644; -.
DR PhosphoSitePlus; P31644; -.
DR BioMuta; GABRA5; -.
DR DMDM; 399519; -.
DR MassIVE; P31644; -.
DR MaxQB; P31644; -.
DR PaxDb; P31644; -.
DR PeptideAtlas; P31644; -.
DR PRIDE; P31644; -.
DR ProteomicsDB; 54797; -.
DR ABCD; P31644; 1 sequenced antibody.
DR Antibodypedia; 22325; 378 antibodies from 31 providers.
DR DNASU; 2558; -.
DR Ensembl; ENST00000335625.10; ENSP00000335592.5; ENSG00000186297.12.
DR Ensembl; ENST00000355395.9; ENSP00000347557.5; ENSG00000186297.12.
DR Ensembl; ENST00000400081.7; ENSP00000382953.3; ENSG00000186297.12.
DR GeneID; 2558; -.
DR KEGG; hsa:2558; -.
DR MANE-Select; ENST00000335625.10; ENSP00000335592.5; NM_000810.4; NP_000801.1.
DR UCSC; uc001zbd.3; human.
DR CTD; 2558; -.
DR DisGeNET; 2558; -.
DR GeneCards; GABRA5; -.
DR GeneReviews; GABRA5; -.
DR HGNC; HGNC:4079; GABRA5.
DR HPA; ENSG00000186297; Tissue enriched (brain).
DR MalaCards; GABRA5; -.
DR MIM; 137142; gene.
DR MIM; 618559; phenotype.
DR neXtProt; NX_P31644; -.
DR OpenTargets; ENSG00000186297; -.
DR Orphanet; 442835; Non-specific early-onset epileptic encephalopathy.
DR PharmGKB; PA28493; -.
DR VEuPathDB; HostDB:ENSG00000186297; -.
DR eggNOG; KOG3642; Eukaryota.
DR GeneTree; ENSGT00940000156234; -.
DR HOGENOM; CLU_010920_2_1_1; -.
DR InParanoid; P31644; -.
DR OMA; DSKMSNM; -.
DR OrthoDB; 1057372at2759; -.
DR PhylomeDB; P31644; -.
DR TreeFam; TF315453; -.
DR PathwayCommons; P31644; -.
DR Reactome; R-HSA-977443; GABA receptor activation.
DR SignaLink; P31644; -.
DR SIGNOR; P31644; -.
DR BioGRID-ORCS; 2558; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; GABRA5; human.
DR GeneWiki; GABRA5; -.
DR GenomeRNAi; 2558; -.
DR Pharos; P31644; Tclin.
DR PRO; PR:P31644; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; P31644; protein.
DR Bgee; ENSG00000186297; Expressed in nucleus accumbens and 105 other tissues.
DR ExpressionAtlas; P31644; baseline and differential.
DR Genevisible; P31644; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0034707; C:chloride channel complex; IEA:UniProtKB-KW.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
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:0098982; C:GABA-ergic synapse; IEA:Ensembl.
DR GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
DR GO; GO:0099060; C:integral component of postsynaptic specialization membrane; IEA:Ensembl.
DR GO; GO:0099056; C:integral component of presynaptic membrane; IEA:Ensembl.
DR GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR GO; GO:0032809; C:neuronal cell body membrane; IEA:Ensembl.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0098794; C:postsynapse; IBA:GO_Central.
DR GO; GO:0045202; C:synapse; IBA:GO_Central.
DR GO; GO:0005231; F:excitatory extracellular ligand-gated ion channel activity; IBA:GO_Central.
DR GO; GO:0050811; F:GABA receptor binding; IEA:Ensembl.
DR GO; GO:0004890; F:GABA-A receptor activity; IEA:Ensembl.
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:0038023; F:signaling receptor activity; TAS:ProtInc.
DR GO; GO:1904315; F:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential; IBA:GO_Central.
DR GO; GO:0008306; P:associative learning; IEA:Ensembl.
DR GO; GO:0001662; P:behavioral fear response; IEA:Ensembl.
DR GO; GO:0007420; P:brain development; IEA:Ensembl.
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:0090102; P:cochlea development; IEA:Ensembl.
DR GO; GO:0007214; P:gamma-aminobutyric acid signaling pathway; IBA:GO_Central.
DR GO; GO:0060119; P:inner ear receptor cell development; IEA:Ensembl.
DR GO; GO:0060384; P:innervation; IEA:Ensembl.
DR GO; GO:0034220; P:ion transmembrane transport; IBA:GO_Central.
DR GO; GO:0043524; P:negative regulation of neuron apoptotic process; IEA:Ensembl.
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:0007605; P:sensory perception of sound; IEA:Ensembl.
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; IPR005435; GABBAa5_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; PR01618; GABAARALPHA5.
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 3D-structure; Cell membrane; Chloride; Chloride channel; Disease variant;
KW Disulfide bond; Epilepsy; Glycoprotein; Ion channel; Ion transport;
KW Isopeptide bond; Ligand-gated ion channel; Membrane;
KW Postsynaptic cell membrane; Receptor; Reference proteome; Signal; Synapse;
KW Transmembrane; Transmembrane helix; Transport; Ubl conjugation.
FT SIGNAL 1..31
FT /evidence="ECO:0000255"
FT CHAIN 32..462
FT /note="Gamma-aminobutyric acid receptor subunit alpha-5"
FT /id="PRO_0000000444"
FT TOPO_DOM 32..259
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 260..281
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 286..307
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 319..341
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 342..427
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 428..449
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 377..412
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 377..408
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 45
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 145
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 207
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 236
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 173..187
FT /evidence="ECO:0000250"
FT CROSSLNK 355
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in ubiquitin)"
FT /evidence="ECO:0000269|PubMed:17370265"
FT VARIANT 294
FT /note="V -> F (in DEE79; decreased subcellular localization
FT to the cell membrane resulting in altered protein
FT localization to the synapse and altered gamma-aminobutyric
FT acid signaling pathway)"
FT /evidence="ECO:0000269|PubMed:31056671"
FT /id="VAR_083201"
FT VARIANT 294
FT /note="V -> L (in DEE79; increased affinity to GABA;
FT decreased maximal GABA-evoked current density)"
FT /evidence="ECO:0000269|PubMed:29961870"
FT /id="VAR_083202"
FT VARIANT 413
FT /note="S -> F (in DEE79; decreased subcellular localization
FT to the cell membrane resulting in altered protein
FT localization to the synapse and altered gamma-aminobutyric
FT acid signaling pathway; the mutant subunit decreases the
FT trafficking of the partnering GABRB3 subunit to the cell
FT membrane with no effect on other subunits)"
FT /evidence="ECO:0000269|PubMed:31056671"
FT /id="VAR_083203"
FT HELIX 265..275
FT /evidence="ECO:0007829|PDB:5O8F"
FT HELIX 276..280
FT /evidence="ECO:0007829|PDB:5O8F"
FT HELIX 286..308
FT /evidence="ECO:0007829|PDB:5O8F"
FT HELIX 319..344
FT /evidence="ECO:0007829|PDB:5O8F"
FT HELIX 424..447
FT /evidence="ECO:0007829|PDB:5O8F"
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
