ID ACHB4_HUMAN Reviewed; 498 AA. AC P30926; A4FTX5; E9PHE8; Q16607; Q4VBA5; Q8WXC8; Q9BQR4; DT 01-JUL-1993, integrated into UniProtKB/Swiss-Prot. DT 01-NOV-1997, sequence version 2. DT 11-NOV-2015, entry version 159. DE RecName: Full=Neuronal acetylcholine receptor subunit beta-4; DE Flags: Precursor; GN Name=CHRNB4; 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] (ISOFORM 1). RX PubMed=8906617; DOI=10.1007/BF02736842; RA Elliott K.J., Ellis S.B., Berckhan K.J., Urrutia A., RA Chavez-Noriega L.E., Johnson E.C., Velicelebi G., Harpold M.M.; RT "Comparative structure of human neuronal alpha 2-alpha 7 and beta 2- RT beta 4 nicotinic acetylcholine receptor subunits and functional RT expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta RT 4 subunits."; RL J. Mol. Neurosci. 7:217-228(1996). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RX PubMed=9203638; RA Gerzanich V., Kuryatov A., Anand R., Lindstrom J.; RT "'Orphan' alpha6 nicotinic AChR subunit can form a functional RT heteromeric acetylcholine receptor."; RL Mol. Pharmacol. 51:320-327(1997). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). RX PubMed=9009220; DOI=10.1016/S0014-5793(96)01383-X; RA Groot Kormelink P.J., Luyten W.H.M.L.; RT "Cloning and sequence of full-length cDNAs encoding the human neuronal RT nicotinic acetylcholine receptor (nAChR) subunits beta3 and beta4 and RT expression of seven nAChR subunits in the human neuroblastoma cell RT line SH-SY5Y and/or IMR-32."; RL FEBS Lett. 400:309-314(1997). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1). RA Duga S., Solda G., Asselta R., Bonati M.T., Dalpra L., Malcovati M., RA Tenchini M.L.; RT "Characterization of the genomic structure of human nicotinic RT acetylcholine receptor CHRNA5/A3/B4 gene cluster: identification of RT two novel introns in the 3' untranslated region of CHRNA3 and of a RT tail-to-tail overlap between CHRNA3 and CHRNA5."; RL Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANTS TRP-136; RP GLY-140 AND VAL-467. RX PubMed=11450844; DOI=10.1007/s100380170054; RA Lev-Lehman E., Bercovich D., Xu W., Stockton D.W., Beaudet A.L.; RT "Characterization of the human beta4 nAChR gene and polymorphisms in RT CHRNA3 and CHRNB4."; RL J. Hum. Genet. 46:362-366(2001). RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16572171; DOI=10.1038/nature04601; RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S., RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., RA Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., RA Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., RA Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., RA Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., RA Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., RA Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., RA Nusbaum C.; RT "Analysis of the DNA sequence and duplication history of human RT chromosome 15."; RL Nature 440:671-675(2006). RN [7] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE RP SEQUENCE [LARGE SCALE MRNA] OF 1-198 (ISOFORM 2). 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 [8] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-18. RX PubMed=11742001; DOI=10.1074/jbc.M110454200; RA Valor L.M., Campos-Caro A., Carrasco-Serrano C., Ortiz J.A., RA Ballesta J.J., Criado M.; RT "Transcription factors NF-Y and Sp1 are important determinants of the RT promoter activity of the bovine and human neuronal nicotinic receptor RT beta 4 subunit genes."; RL J. Biol. Chem. 277:8866-8876(2002). RN [9] RP NUCLEOTIDE SEQUENCE [MRNA] OF 48-498. RX PubMed=1330682; DOI=10.1016/0014-5793(92)81411-E; RA Tarroni P., Rubboli F., Chini B., Zwart R., Oortgiesen M., Sher E., RA Clementi F.; RT "Neuronal-type nicotinic receptors in human neuroblastoma and small- RT cell lung carcinoma cell lines."; RL FEBS Lett. 312:66-70(1992). RN [10] RP INTERACTION WITH RIC3. RX PubMed=16120769; DOI=10.1124/mol.105.017459; RA Lansdell S.J., Gee V.J., Harkness P.C., Doward A.I., Baker E.R., RA Gibb A.J., Millar N.S.; RT "RIC-3 enhances functional expression of multiple nicotinic RT acetylcholine receptor subtypes in mammalian cells."; RL Mol. Pharmacol. 68:1431-1438(2005). CC -!- FUNCTION: After binding acetylcholine, the AChR responds by an CC extensive change in conformation that affects all subunits and CC leads to opening of an ion-conducting channel across the plasma CC membrane. CC -!- SUBUNIT: Neuronal AChR is composed of two different types of CC subunits: alpha and beta. Beta-4 subunit can be combined to alpha- CC 2, alpha-3 or alpha-4 to give rise to functional receptors. CC Interacts with RIC3; which is required for proper folding and CC assembly. {ECO:0000269|PubMed:16120769}. CC -!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell CC membrane; Multi-pass membrane protein. Cell membrane; Multi-pass CC membrane protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=P30926-1; Sequence=Displayed; CC Name=2; CC IsoId=P30926-2; Sequence=VSP_046674, VSP_046675; CC -!- SIMILARITY: Belongs to the ligand-gated ion channel (TC 1.A.9) CC family. Acetylcholine receptor (TC 1.A.9.1) subfamily. Beta- CC 4/CHRNB4 sub-subfamily. {ECO:0000305}. 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; U62439; AAB40117.1; -; mRNA. DR EMBL; U48861; AAA92123.1; -; mRNA. DR EMBL; Y08416; CAA69693.1; -; mRNA. DR EMBL; AJ306454; CAC34819.1; -; Genomic_DNA. DR EMBL; AJ306455; CAC34819.1; JOINED; Genomic_DNA. DR EMBL; AJ306456; CAC34819.1; JOINED; Genomic_DNA. DR EMBL; AJ306457; CAC34819.1; JOINED; Genomic_DNA. DR EMBL; AJ306458; CAC34819.1; JOINED; Genomic_DNA. DR EMBL; AJ306459; CAC34819.1; JOINED; Genomic_DNA. DR EMBL; AF306329; AAL02062.1; -; Genomic_DNA. DR EMBL; AF306325; AAL02062.1; JOINED; Genomic_DNA. DR EMBL; AF306326; AAL02062.1; JOINED; Genomic_DNA. DR EMBL; AF306327; AAL02062.1; JOINED; Genomic_DNA. DR EMBL; AF306328; AAL02062.1; JOINED; Genomic_DNA. DR EMBL; AC022748; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC067863; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC096080; AAH96080.1; -; mRNA. DR EMBL; BC096081; AAH96081.1; -; mRNA. DR EMBL; BC096083; AAH96083.1; -; mRNA. DR EMBL; BC096082; AAH96082.1; -; mRNA. DR EMBL; AF453877; AAL57840.1; -; Genomic_DNA. DR EMBL; X68275; CAA48336.1; -; mRNA. DR CCDS; CCDS10306.1; -. [P30926-1] DR CCDS; CCDS58392.1; -. [P30926-2] DR PIR; G02421; G02421. DR RefSeq; NP_000741.1; NM_000750.3. [P30926-1] DR RefSeq; NP_001243496.1; NM_001256567.1. [P30926-2] DR UniGene; Hs.624178; -. DR PDB; 2ASG; Model; -; B/D/E=262-284. DR PDBsum; 2ASG; -. DR ProteinModelPortal; P30926; -. DR SMR; P30926; 25-360, 458-484. DR BioGrid; 107565; 1. DR STRING; 9606.ENSP00000261751; -. DR BindingDB; P30926; -. DR ChEMBL; CHEMBL2221346; -. DR DrugBank; DB00514; Dextromethorphan. DR DrugBank; DB00898; Ethanol. DR DrugBank; DB00674; Galantamine. DR DrugBank; DB01227; Levomethadyl Acetate. DR DrugBank; DB00184; Nicotine. DR DrugBank; DB01090; Pentolinium. DR GuidetoPHARMACOLOGY; 474; -. DR PhosphoSite; P30926; -. DR BioMuta; CHRNB4; -. DR DMDM; 2506129; -. DR PaxDb; P30926; -. DR PRIDE; P30926; -. DR Ensembl; ENST00000261751; ENSP00000261751; ENSG00000117971. [P30926-1] DR Ensembl; ENST00000412074; ENSP00000416386; ENSG00000117971. [P30926-2] DR GeneID; 1143; -. DR KEGG; hsa:1143; -. DR UCSC; uc002bed.1; human. [P30926-1] DR CTD; 1143; -. DR GeneCards; CHRNB4; -. DR HGNC; HGNC:1964; CHRNB4. DR MIM; 118509; gene. DR neXtProt; NX_P30926; -. DR PharmGKB; PA26496; -. DR eggNOG; KOG3645; Eukaryota. DR eggNOG; ENOG410XQGR; LUCA. DR GeneTree; ENSGT00760000118930; -. DR HOGENOM; HOG000006757; -. DR HOVERGEN; HBG003756; -. DR InParanoid; P30926; -. DR KO; K04815; -. DR OMA; FMKRPGP; -. DR OrthoDB; EOG72JWGV; -. DR PhylomeDB; P30926; -. DR TreeFam; TF315605; -. DR Reactome; R-HSA-629587; Highly sodium permeable acetylcholine nicotinic receptors. DR Reactome; R-HSA-629594; Highly calcium permeable postsynaptic nicotinic acetylcholine receptors. DR Reactome; R-HSA-629597; Highly calcium permeable nicotinic acetylcholine receptors. DR GeneWiki; CHRNB4; -. DR GenomeRNAi; 1143; -. DR NextBio; 4756; -. DR PRO; PR:P30926; -. DR Proteomes; UP000005640; Chromosome 15. DR Bgee; P30926; -. DR CleanEx; HS_CHRNB4; -. DR ExpressionAtlas; P30926; baseline and differential. DR Genevisible; P30926; HS. DR GO; GO:0005892; C:acetylcholine-gated channel complex; IDA:UniProtKB. DR GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW. DR GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB. DR GO; GO:0005887; C:integral component of plasma membrane; IC:UniProtKB. DR GO; GO:0043005; C:neuron projection; IBA:GO_Central. DR GO; GO:0005886; C:plasma membrane; TAS:Reactome. DR GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-SubCell. DR GO; GO:0045202; C:synapse; IBA:GO_Central. DR GO; GO:0042166; F:acetylcholine binding; IEA:Ensembl. DR GO; GO:0015464; F:acetylcholine receptor activity; IDA:UniProtKB. DR GO; GO:0004889; F:acetylcholine-activated cation-selective channel activity; TAS:UniProtKB. DR GO; GO:0008144; F:drug binding; IEA:Ensembl. DR GO; GO:0015276; F:ligand-gated ion channel activity; TAS:DFLAT. DR GO; GO:0001508; P:action potential; IEA:Ensembl. DR GO; GO:0035095; P:behavioral response to nicotine; IEA:Ensembl. DR GO; GO:0098655; P:cation transmembrane transport; TAS:GOC. DR GO; GO:0034220; P:ion transmembrane transport; TAS:GOC. DR GO; GO:0006811; P:ion transport; TAS:UniProtKB. DR GO; GO:0007626; P:locomotory behavior; IEA:Ensembl. DR GO; GO:0050877; P:neurological system process; IBA:GO_Central. DR GO; GO:0051971; P:positive regulation of transmission of nerve impulse; IEA:Ensembl. DR GO; GO:0051291; P:protein heterooligomerization; IEA:Ensembl. DR GO; GO:0042391; P:regulation of membrane potential; IBA:GO_Central. DR GO; GO:0046928; P:regulation of neurotransmitter secretion; NAS:UniProtKB. DR GO; GO:0006940; P:regulation of smooth muscle contraction; IEA:Ensembl. DR GO; GO:0035094; P:response to nicotine; IBA:GO_Central. DR GO; GO:0007165; P:signal transduction; IDA:UniProtKB. DR GO; GO:0006939; P:smooth muscle contraction; IEA:Ensembl. DR GO; GO:0007268; P:synaptic transmission; TAS:Reactome. DR GO; GO:0060084; P:synaptic transmission involved in micturition; IMP:UniProtKB. DR GO; GO:0007271; P:synaptic transmission, cholinergic; TAS:ProtInc. DR Gene3D; 1.20.120.370; -; 2. DR Gene3D; 2.70.170.10; -; 1. DR InterPro; IPR027361; Acetylcholine_rcpt_TM. DR InterPro; IPR006202; Neur_chan_lig-bd. DR InterPro; IPR006201; Neur_channel. DR InterPro; IPR006029; Neurotrans-gated_channel_TM. DR InterPro; IPR018000; Neurotransmitter_ion_chnl_CS. DR InterPro; IPR002394; Nicotinic_acetylcholine_rcpt. DR PANTHER; PTHR18945; PTHR18945; 2. DR Pfam; PF02931; Neur_chan_LBD; 1. DR Pfam; PF02932; Neur_chan_memb; 1. DR PRINTS; PR00254; NICOTINICR. 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; Alternative splicing; Cell junction; Cell membrane; KW Complete proteome; Disulfide bond; Glycoprotein; Ion channel; KW Ion transport; Ligand-gated ion channel; Membrane; Polymorphism; KW Postsynaptic cell membrane; Receptor; Reference proteome; Signal; KW Synapse; Transmembrane; Transmembrane helix; Transport. FT SIGNAL 1 21 {ECO:0000255}. FT CHAIN 22 498 Neuronal acetylcholine receptor subunit FT beta-4. FT /FTId=PRO_0000000389. FT TOPO_DOM 22 236 Extracellular. {ECO:0000255}. FT TRANSMEM 237 257 Helical. {ECO:0000255}. FT TOPO_DOM 258 265 Cytoplasmic. {ECO:0000255}. FT TRANSMEM 266 286 Helical. {ECO:0000255}. FT TOPO_DOM 287 298 Extracellular. {ECO:0000255}. FT TRANSMEM 299 319 Helical. {ECO:0000255}. FT TOPO_DOM 320 460 Cytoplasmic. {ECO:0000255}. FT TRANSMEM 461 481 Helical. {ECO:0000255}. FT TOPO_DOM 482 498 Extracellular. {ECO:0000255}. FT CARBOHYD 36 36 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 93 93 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 138 138 N-linked (GlcNAc...). {ECO:0000255}. FT CARBOHYD 166 166 N-linked (GlcNAc...). {ECO:0000255}. FT DISULFID 153 167 {ECO:0000250}. FT VAR_SEQ 120 217 NADGTYEVSVYTNLIVRSNGSVLWLPPAIYKSACKIEVKYF FT PFDQQNCTLKFRSWTYDHTEIDMVLMTPTASMDDFTPSGEW FT DIVALPGRRTVNPQDP -> KSLRTGSTWLWWWTGCSCGCS FT CLCASWALWGSSYRPSSRPMQLLRGPTLPSVTEGPLGCGVR FT GCEWPGGHFAASFWVVADEALSKYVSIGHQPHQTSHSRGTG FT KDGGLGCPL (in isoform 2). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_046674. FT VAR_SEQ 218 498 Missing (in isoform 2). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_046675. FT VARIANT 91 91 T -> I (in dbSNP:rs12914008). FT /FTId=VAR_048174. FT VARIANT 136 136 R -> W (in dbSNP:rs141876090). FT {ECO:0000269|PubMed:11450844}. FT /FTId=VAR_013241. FT VARIANT 140 140 S -> G (in dbSNP:rs56218866). FT {ECO:0000269|PubMed:11450844}. FT /FTId=VAR_013242. FT VARIANT 467 467 M -> V (in dbSNP:rs61737502). FT {ECO:0000269|PubMed:11450844}. FT /FTId=VAR_013243. FT CONFLICT 72 73 EQ -> DE (in Ref. 9; CAA48336). FT {ECO:0000305}. FT CONFLICT 121 121 Missing (in Ref. 4; CAC34819). FT {ECO:0000305}. SQ SEQUENCE 498 AA; 56380 MW; 0D48AB203F3FD03E CRC64; MRRAPSLVLF FLVALCGRGN CRVANAEEKL MDDLLNKTRY NNLIRPATSS SQLISIKLQL SLAQLISVNE REQIMTTNVW LKQEWTDYRL TWNSSRYEGV NILRIPAKRI WLPDIVLYNN ADGTYEVSVY TNLIVRSNGS VLWLPPAIYK SACKIEVKYF PFDQQNCTLK FRSWTYDHTE IDMVLMTPTA SMDDFTPSGE WDIVALPGRR TVNPQDPSYV DVTYDFIIKR KPLFYTINLI IPCVLTTLLA ILVFYLPSDC GEKMTLCISV LLALTFFLLL ISKIVPPTSL DVPLIGKYLM FTMVLVTFSI VTSVCVLNVH HRSPSTHTMA PWVKRCFLHK LPTFLFMKRP GPDSSPARAF PPSKSCVTKP EATATSTSPS NFYGNSMYFV NPASAASKSP AGSTPVAIPR DFWLRSSGRF RQDVQEALEG VSFIAQHMKN DDEDQSVVED WKYVAMVVDR LFLWVFMFVC VLGTVGLFLP PLFQTHAASE GPYAAQRD //