LOCUS       NM_000079               1984 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens cholinergic receptor nicotinic alpha 1 subunit
            (CHRNA1), transcript variant 2, mRNA.
ACCESSION   NM_000079
VERSION     NM_000079.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1984)
  AUTHORS   Rodriguez Cruz,P.M., Ravenscroft,G., Natera,D., Carr,A., Manzur,A.,
            Liu,W.W., Vella,N.R., Jerico,I., Gonzalez-Quereda,L., Gallano,P.,
            Montalto,S.A., Davis,M.R., Lamont,P.J., Laing,N.G., Bourque,P.,
            Nascimento,A., Muntoni,F., Polavarapu,K., Lochmuller,H., Palace,J.
            and Beeson,D.
  TITLE     A novel phenotype of AChR-deficiency syndrome with predominant
            facial and distal weakness resulting from the inclusion of an
            evolutionary alternatively-spliced exon in CHRNA1
  JOURNAL   Neuromuscul Disord 33 (2), 161-168 (2023)
   PUBMED   36634413
REFERENCE   2  (bases 1 to 1984)
  AUTHORS   Lin,J.B., Kang,M.Q., Huang,L.P., Zhuo,Y., Li,X. and Lai,F.C.
  TITLE     CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis
  JOURNAL   Mol Cell Neurosci 111, 103598 (2021)
   PUBMED   33476802
  REMARK    GeneRIF: CHRNA1 promotes the pathogenesis of primary focal
            hyperhidrosis.
REFERENCE   3  (bases 1 to 1984)
  AUTHORS   Kudryavtsev,D., Isaeva,A., Barkova,D., Spirova,E., Mukhutdinova,R.,
            Kasheverov,I. and Tsetlin,V.
  TITLE     Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal New
            Molecular Features of G153S Slow-Channel Myasthenia
  JOURNAL   Molecules 26 (5), 1278 (2021)
   PUBMED   33652901
  REMARK    GeneRIF: Point Mutations of Nicotinic Receptor alpha1 Subunit
            Reveal New Molecular Features of G153S Slow-Channel Myasthenia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1984)
  AUTHORS   Uzawa,A., Ozawa,Y., Yasuda,M., Oda,F., Kojima,Y., Kawaguchi,N.,
            Kanai,T., Himuro,K. and Kuwabara,S.
  TITLE     Increased serum acetylcholine receptor alpha1 subunit protein in
            anti-acetylcholine receptor antibody-positive myasthenia gravis
  JOURNAL   J Neuroimmunol 339, 577125 (2020)
   PUBMED   31855720
  REMARK    GeneRIF: Serum AChR alpha1 subunit protein concentrations were
            higher in patients with ant-AChR antibody-positive myasthenia
            gravis than those in controls.
REFERENCE   5  (bases 1 to 1984)
  AUTHORS   Wang,M., Liu,D., Schwender,H., Wang,H., Wang,P., Zhou,Z., Li,J.,
            Wu,T., Zhu,H. and Beaty,T.H.
  TITLE     Evaluating the effect of nicotinic cholinergic receptor genes on
            the risk of nonsyndromic cleft lip with or without cleft palate
  JOURNAL   Oral Dis 24 (6), 1068-1072 (2018)
   PUBMED   29688589
  REMARK    GeneRIF: In our analysis, we found one pair of SNPs in CHRNA1 and
            CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached
            corrected significance in tests for GxG interaction. Our study
            suggested evidence of interactions between CHRNs in controlling the
            risk of NSCL/P.
REFERENCE   6  (bases 1 to 1984)
  AUTHORS   Abicht,A., Muller,J.S. and Lochmuller,H.
  TITLE     Congenital Myasthenic Syndromes Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301347
REFERENCE   7  (bases 1 to 1984)
  AUTHORS   Yu,X.M. and Hall,Z.W.
  TITLE     Extracellular domains mediating epsilon subunit interactions of
            muscle acetylcholine receptor
  JOURNAL   Nature 352 (6330), 64-67 (1991)
   PUBMED   1712080
REFERENCE   8  (bases 1 to 1984)
  AUTHORS   Beeson,D., Jeremiah,S., West,L.F., Povey,S. and Newsom-Davis,J.
  TITLE     Assignment of the human nicotinic acetylcholine receptor genes: the
            alpha and delta subunit genes to chromosome 2 and the beta subunit
            gene to chromosome 17
  JOURNAL   Ann Hum Genet 54 (3), 199-208 (1990)
   PUBMED   2221824
REFERENCE   9  (bases 1 to 1984)
  AUTHORS   Beeson,D., Morris,A., Vincent,A. and Newsom-Davis,J.
  TITLE     The human muscle nicotinic acetylcholine receptor alpha-subunit
            exist as two isoforms: a novel exon
  JOURNAL   EMBO J 9 (7), 2101-2106 (1990)
   PUBMED   1694127
REFERENCE   10 (bases 1 to 1984)
  AUTHORS   Hohlfeld,R., Toyka,K.V., Miner,L.L., Walgrave,S.L. and
            Conti-Tronconi,B.M.
  TITLE     Amphipathic segment of the nicotinic receptor alpha subunit
            contains epitopes recognized by T lymphocytes in myasthenia gravis
  JOURNAL   J Clin Invest 81 (3), 657-660 (1988)
   PUBMED   2449458
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK315312.1, Y00762.1 and
            BC043196.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_000079.3.
            
            Summary: The muscle acetylcholine receptor consiststs of 5 subunits
            of 4 different types: 2 alpha subunits and 1 each of the beta,
            gamma, and delta subunits. This gene encodes an alpha subunit that
            plays a role in acetlycholine binding/channel gating. Alternatively
            spliced transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (2) lacks an in-frame segment of
            the coding region, compared to variant 1. It encodes a shorter
            isoform (b), that is missing an internal segment compared to
            isoform a.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK315312.1, Y00762.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158800, SAMEA2162946
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000348749.9/ ENSP00000261008.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1452              AK315312.1         1-1452
            1453-1697           Y00762.1           1423-1667
            1698-1984           BC043196.2         1362-1648
FEATURES             Location/Qualifiers
     source          1..1984
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..1984
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="cholinergic receptor nicotinic alpha 1 subunit"
                     /db_xref="GeneID:1134"
                     /db_xref="HGNC:HGNC:1955"
                     /db_xref="MIM:100690"
     exon            1..121
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1452
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; cholinergic receptor, nicotinic, alpha
                     polypeptide 1 (muscle); cholinergic receptor, nicotinic
                     alpha 1; nicotinic cholinergic receptor alpha 1;
                     acetylcholine receptor subunit alpha; nicotinic
                     acetylcholine receptor alpha subunit; muscle nicotinic
                     acetylcholine receptor; acetylcholine receptor, nicotinic,
                     alpha 1 (muscle); cholinergic receptor, nicotinic, alpha 1
                     (muscle)"
                     /codon_start=1
                     /product="acetylcholine receptor subunit alpha isoform b
                     precursor"
                     /protein_id="NP_000070.1"
                     /db_xref="CCDS:CCDS2261.1"
                     /db_xref="GeneID:1134"
                     /db_xref="HGNC:HGNC:1955"
                     /db_xref="MIM:100690"
                     /translation="MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVED
                     HRQVVEVTVGLQLIQLINVDEVNQIVTTNVRLKQQWVDYNLKWNPDDYGGVKKIHIPS
                     EKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQ
                     NCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPDTPY
                     LDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTVF
                     LLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRK
                     VFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEV
                     KSAIEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRL
                     IELNQQG"
     exon            122..267
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            268..312
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            313..422
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            423..618
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            619..856
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1080
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1320
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1984
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1955..1960
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="hexamer: AATAAA"
     regulatory      1960..1965
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="hexamer: ACTAAA"
     polyA_site      1977
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="major polyA site"
     polyA_site      1984
                     /gene="CHRNA1"
                     /gene_synonym="ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A;
                     FCCMS; SCCMS"
                     /note="major polyA site"
ORIGIN      
        1 agacaagcac ccagccagag tgccagtgag aagcacaggc caccactctg ccctggtcca
       61 cacaagctcc ggtagcccat ggagccctgg cctctcctcc tgctctttag cctttgctca
      121 gctggcctcg tcctgggctc cgaacatgag acccgtctgg tggcaaagct atttaaagac
      181 tacagcagcg tggtgcggcc agtggaagac caccgccagg tcgtggaggt caccgtgggc
      241 ctgcagctga tacagctcat caatgtggat gaagtaaatc agatcgtgac aaccaatgtg
      301 cgtctgaaac agcaatgggt ggattacaac ctaaaatgga atccagatga ctatggcggt
      361 gtgaaaaaaa ttcacattcc ttcagaaaag atctggcgcc cagaccttgt tctctataac
      421 aatgcagatg gtgactttgc tattgtcaag ttcaccaaag tgctcctgca gtacactggc
      481 cacatcacgt ggacacctcc agccatcttt aaaagctact gtgagatcat cgtcacccac
      541 tttccctttg atgaacagaa ctgcagcatg aagctgggca cctggaccta cgacggctct
      601 gtcgtggcca tcaacccgga aagcgaccag ccagacctga gcaacttcat ggagagcggg
      661 gagtgggtga tcaaggagtc ccggggctgg aagcactccg tgacctattc ctgctgcccc
      721 gacaccccct acctggacat cacctaccac ttcgtcatgc agcgcctgcc cctctacttc
      781 atcgtcaacg tcatcatccc ctgcctgctc ttctccttct taactggcct ggtattctac
      841 ctgcccacag actcagggga gaagatgact ctgagcatct ctgtcttact gtctttgact
      901 gtgttccttc tggtcatcgt ggagctgatc ccctccacgt ccagtgctgt gcccttgatt
      961 ggaaaataca tgctgttcac catggtgttc gtcattgcct ccatcatcat cactgtcatc
     1021 gtcatcaaca cacaccaccg ctcacccagc acccatgtca tgcccaactg ggtgcggaag
     1081 gtttttatcg acactatccc aaatatcatg tttttctcca caatgaaaag accatccaga
     1141 gaaaagcaag acaaaaagat ttttacagaa gacattgata tctctgacat ttctggaaag
     1201 ccagggcctc cacccatggg cttccactct cccctgatca aacaccccga ggtgaaaagt
     1261 gccatcgagg gcatcaagta catcgcagag accatgaagt cagaccagga gtctaacaat
     1321 gcggcggcag agtggaagta cgttgcaatg gtgatggacc acatactcct cggagtcttc
     1381 atgcttgttt gcatcatcgg aaccctagcc gtgtttgcag gtcgactcat tgaattaaat
     1441 cagcaaggat gagcagaaaa tgagctgagc ttagctctgc cctggaacct accagagcag
     1501 agaagggcag gagaggaaga tttgtctact tgctccactc gcacttatca aacgtgttat
     1561 attccatact tattattgat gataagattt acctttatgt aagtttatgg ccttgaagtg
     1621 ttttcatatt gcttctccct ttagttctgc tgtctccctg aagagtgaac cctctttagt
     1681 aaatgaaact aatcactaaa aaaagtgttc atttccagtg tctggaagag tttttgccag
     1741 gataaccgag gttttctgtt gcattgtcat tgctgttata tttatatatt tacttatttt
     1801 gtctaaccac gagaccacta gggagttgct gatgttctaa atgaagtgta ttctttgctt
     1861 aagagtcagt tttgtaccta ctaagaaaac cccatctacc agtcctaaag agataaggca
     1921 tttgatttgg agagagagga agcagtagaa atgaaataaa ctaaaatgca aactgcatca
     1981 aaaa
//
