ID   ACHB_HUMAN              Reviewed;         501 AA.
AC   P11230; Q96FB8;
DT   01-JUL-1989, integrated into UniProtKB/Swiss-Prot.
DT   11-JUL-2002, sequence version 3.
DT   09-FEB-2010, entry version 124.
DE   RecName: Full=Acetylcholine receptor subunit beta;
DE   Flags: Precursor;
GN   Name=CHRNB1; Synonyms=ACHRB, CHRNB;
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=89296503; PubMed=2740233; DOI=10.1093/nar/17.11.4391;
RA   Beeson D.M.W., Brydson M., Newsom-Davis J.;
RT   "Nucleotide sequence of human muscle acetylcholine receptor beta-
RT   subunit.";
RL   Nucleic Acids Res. 17:4391-4391(1989).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Eye;
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   [3]
RP   VARIANT SCCMS MET-285.
RX   MEDLINE=96256490; PubMed=8651643; DOI=10.1002/ana.410390607;
RA   Gomez C.M., Maselli R., Gammack J., Lasalde J., Tamamizu S.,
RA   Cornblath D.R., Lehar M., McNamee M., Kuncl R.W.;
RT   "A beta-subunit mutation in the acetylcholine receptor channel gate
RT   causes severe slow-channel syndrome.";
RL   Ann. Neurol. 39:712-723(1996).
RN   [4]
RP   VARIANT SCCMS MET-289.
RX   MEDLINE=97026281; PubMed=8872460; DOI=10.1093/hmg/5.9.1217;
RA   Engel A.G., Ohno K., Milone M., Wang H.-L., Nakano S., Bouzat C.,
RA   Pruitt J.N. II, Hutchinson D.O., Brengman J.M., Bren N., Sieb J.P.,
RA   Sine S.M.;
RT   "New mutations in acetylcholine receptor subunit genes reveal
RT   heterogeneity in the slow-channel congenital myasthenic syndrome.";
RL   Hum. Mol. Genet. 5:1217-1227(1996).
RN   [5]
RP   VARIANT ACHRDCMS 449-GLU--GLU-451 DEL, AND CHARACTERIZATION OF VARIANT
RP   ACHRDCMS 449-GLU--GLU-451 DEL.
RX   PubMed=10562302; DOI=10.1172/JCI8179;
RA   Quiram P.A., Ohno K., Milone M., Patterson M.C., Pruitt J.N. II,
RA   Brengman J.M., Sine S.M., Engel A.G.;
RT   "Mutation causing congenital myasthenia reveals acetylcholine receptor
RT   beta/delta subunit interaction essential for assembly.";
RL   J. Clin. Invest. 104:1403-1410(1999).
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: Pentamer of two alpha chains, and one each of the beta,
CC       delta, and gamma (in immature muscle) or epsilon (in mature
CC       muscle) chains.
CC   -!- SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell
CC       membrane; Multi-pass membrane protein. Cell membrane; Multi-pass
CC       membrane protein.
CC   -!- DISEASE: Defects in CHRNB1 are a cause of congenital myasthenic
CC       syndrome slow-channel type (SCCMS) [MIM:601462]. SCCMS is the most
CC       common congenital myasthenic syndrome. Congenital myasthenic
CC       syndromes are characterized by muscle weakness affecting the axial
CC       and limb muscles (with hypotonia in early-onset forms), the ocular
CC       muscles (leading to ptosis and ophthalmoplegia), and the facial
CC       and bulbar musculature (affecting sucking and swallowing, and
CC       leading to dysphonia). The symptoms fluctuate and worsen with
CC       physical effort. SCCMS is caused by kinetic abnormalities of the
CC       AChR, resulting in prolonged endplate currents and prolonged AChR
CC       channel opening episodes.
CC   -!- DISEASE: Defects in CHRNB1 are a cause of congenital myasthenic
CC       syndrome with acetylcholine receptor deficiency (ACHRDCMS)
CC       [MIM:608931]. ACHRDCMS is a post-synaptic congenital myasthenic
CC       syndrome. Mutations underlying AChR deficiency cause a 'loss of
CC       function' and show recessive inheritance.
CC   -!- SIMILARITY: Belongs to the ligand-gated ionic channel (TC 1.A.9)
CC       family.
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CHRNB1";
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DR   EMBL; X14830; CAA32939.1; -; mRNA.
DR   EMBL; BC011371; AAH11371.1; -; mRNA.
DR   IPI; IPI00298986; -.
DR   PIR; S04607; S04607.
DR   RefSeq; NP_000738.2; -.
DR   UniGene; Hs.330386; -.
DR   SMR; P11230; 24-501.
DR   IntAct; P11230; 1.
DR   STRING; P11230; -.
DR   PhosphoSite; P11230; -.
DR   Ensembl; ENST00000306071; ENSP00000304290; ENSG00000170175; Homo sapiens.
DR   GeneID; 1140; -.
DR   KEGG; hsa:1140; -.
DR   UCSC; uc002ghb.1; human.
DR   CTD; 1140; -.
DR   GeneCards; GC17P007289; -.
DR   H-InvDB; HIX0013101; -.
DR   HGNC; HGNC:1961; CHRNB1.
DR   HPA; CAB011200; -.
DR   HPA; HPA005822; -.
DR   MIM; 100710; gene.
DR   MIM; 601462; phenotype.
DR   MIM; 608931; phenotype.
DR   Orphanet; 590; Congenital myasthenic syndromes.
DR   Orphanet; 98913; Postsynaptic congenital myasthenic syndromes.
DR   PharmGKB; PA26494; -.
DR   eggNOG; prNOG16874; -.
DR   HOGENOM; HBG387619; -.
DR   HOVERGEN; P11230; -.
DR   InParanoid; P11230; -.
DR   OMA; LMFTMIL; -.
DR   OrthoDB; EOG954CJV; -.
DR   PhylomeDB; P11230; -.
DR   NextBio; 4744; -.
DR   ArrayExpress; P11230; -.
DR   Bgee; P11230; -.
DR   CleanEx; HS_CHRNB1; -.
DR   Genevestigator; P11230; -.
DR   GermOnline; ENSG00000170175; Homo sapiens.
DR   GO; GO:0030054; C:cell junction; IEA:UniProtKB-KW.
DR   GO; GO:0005892; C:nicotinic acetylcholine-gated receptor-chan...; IMP:UniProtKB.
DR   GO; GO:0045211; C:postsynaptic membrane; IEA:UniProtKB-KW.
DR   GO; GO:0042166; F:acetylcholine binding; ISS:UniProtKB.
DR   GO; GO:0004872; F:receptor activity; IEA:UniProtKB-KW.
DR   GO; GO:0035095; P:behavioral response to nicotine; IMP:UniProtKB.
DR   GO; GO:0006812; P:cation transport; IMP:UniProtKB.
DR   GO; GO:0006936; P:muscle contraction; IMP:UniProtKB.
DR   GO; GO:0048747; P:muscle fiber development; IMP:UniProtKB.
DR   GO; GO:0007274; P:neuromuscular synaptic transmission; IMP:UniProtKB.
DR   GO; GO:0001941; P:postsynaptic membrane organization; IMP:UniProtKB.
DR   GO; GO:0042391; P:regulation of membrane potential; ISS:UniProtKB.
DR   GO; GO:0007165; P:signal transduction; IMP:UniProtKB.
DR   GO; GO:0007271; P:synaptic transmission, cholinergic; IMP:UniProtKB.
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_N.
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; PR00254; NICOTINICR.
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; Complete proteome;
KW   Congenital myasthenic syndrome; Disease mutation; Disulfide bond;
KW   Glycoprotein; Ion transport; Ionic channel; Membrane; Phosphoprotein;
KW   Polymorphism; Postsynaptic cell membrane; Receptor; Signal; Synapse;
KW   Transmembrane; Transport.
FT   SIGNAL        1     23
FT   CHAIN        24    501       Acetylcholine receptor subunit beta.
FT                                /FTId=PRO_0000000315.
FT   TOPO_DOM     24    244       Extracellular (Potential).
FT   TRANSMEM    245    269       Potential.
FT   TRANSMEM    277    295       Potential.
FT   TRANSMEM    311    332       Potential.
FT   TOPO_DOM    333    469       Cytoplasmic (Potential).
FT   TRANSMEM    470    488       Potential.
FT   MOD_RES     390    390       Phosphotyrosine; by Tyr-kinases (By
FT                                similarity).
FT   CARBOHYD    164    164       N-linked (GlcNAc...) (Potential).
FT   DISULFID    151    165       By similarity.
FT   VARIANT      32     32       E -> G (in dbSNP:rs17856697).
FT                                /FTId=VAR_048169.
FT   VARIANT     285    285       L -> M (in SCCMS).
FT                                /FTId=VAR_000287.
FT   VARIANT     289    289       V -> M (in SCCMS).
FT                                /FTId=VAR_000288.
FT   VARIANT     449    451       Missing (in ACHRDCMS; impairs AChR
FT                                assembly by disrupting a specific
FT                                interaction between beta and delta
FT                                subunits).
FT                                /FTId=VAR_017494.
FT   CONFLICT     15     15       A -> P (in Ref. 1; CAA32939).
FT   CONFLICT    210    210       I -> N (in Ref. 1; CAA32939).
SQ   SEQUENCE   501 AA;  56698 MW;  365CBFA795A51394 CRC64;
     MTPGALLMLL GALGAPLAPG VRGSEAEGRL REKLFSGYDS SVRPAREVGD RVRVSVGLIL
     AQLISLNEKD EEMSTKVYLD LEWTDYRLSW DPAEHDGIDS LRITAESVWL PDVVLLNNND
     GNFDVALDIS VVVSSDGSVR WQPPGIYRSS CSIQVTYFPF DWQNCTMVFS SYSYDSSEVS
     LQTGLGPDGQ GHQEIHIHEG TFIENGQWEI IHKPSRLIQP PGDPRGGREG QRQEVIFYLI
     IRRKPLFYLV NVIAPCILIT LLAIFVFYLP PDAGEKMGLS IFALLTLTVF LLLLADKVPE
     TSLSVPIIIK YLMFTMVLVT FSVILSVVVL NLHHRSPHTH QMPLWVRQIF IHKLPLYLRL
     KRPKPERDLM PEPPHCSSPG SGWGRGTDEY FIRKPPSDFL FPKPNRFQPE LSAPDLRRFI
     DGPNRAVALL PELREVVSSI SYIARQLQEQ EDHDALKEDW QFVAMVVDRL FLWTFIIFTS
     VGTLVIFLDA TYHLPPPDPF P
//