LOCUS       NM_000751               2962 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens cholinergic receptor nicotinic delta subunit (CHRND),
            transcript variant 1, mRNA.
ACCESSION   NM_000751
VERSION     NM_000751.3
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 2962)
  AUTHORS   Soyer,T., Boybeyi,O., Karaosmanoglu,B., Taskiran,E., Simsek,O.P.
            and Utine,G.E.
  TITLE     CHRND variant in a paternally inherited esophageal atresia and
            tracheoesophgageal fistula: Report of a case
  JOURNAL   Birth Defects Res 116 (1), e2286 (2024)
   PUBMED   38087897
  REMARK    GeneRIF: CHRND variant in a paternally inherited esophageal atresia
            and tracheoesophgageal fistula: Report of a case.
REFERENCE   2  (bases 1 to 2962)
  AUTHORS   Liu,Y., Ye,S., Zhang,H., Zhang,K., Lyu,Y., Gao,M., Gai,Z. and
            Liu,Y.
  TITLE     [Clinical and genetic analysis of a patient with slow-channel
            congenital myasthenic syndrome]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (5), 551-554 (2020)
   PUBMED   32335884
  REMARK    GeneRIF: child was diagnosed with slow-channel congenital
            myasthenic syndrome (SCCMS) type 3A caused by heterozygous variant
            of the CHRND gene
            Review article
REFERENCE   3  (bases 1 to 2962)
  AUTHORS   Shen,X.M., Brengman,J., Neubauer,D., Sine,S.M. and Engel,A.G.
  TITLE     Investigation of Congenital Myasthenia Reveals Functional Asymmetry
            of Invariant Acetylcholine Receptor (AChR) Cys-loop Aspartates
  JOURNAL   J Biol Chem 291 (7), 3291-3301 (2016)
   PUBMED   26698174
  REMARK    GeneRIF: Data suggest mutation in invariant Cys-loop of CHRND
            (D140N) observed in muscle of one patient (11 y/o girl) with
            congenital myasthenia (w/ severe muscle weakness) alters
            conformation of ligand/acetylcholine binding site and receptor
            functionality.
REFERENCE   4  (bases 1 to 2962)
  AUTHORS   Park,J.Y., Mott,M., Williams,T., Ikeda,H., Wen,H., Linhoff,M. and
            Ono,F.
  TITLE     A single mutation in the acetylcholine receptor delta-subunit
            causes distinct effects in two types of neuromuscular synapses
  JOURNAL   J Neurosci 34 (31), 10211-10218 (2014)
   PUBMED   25080583
  REMARK    GeneRIF: This study showed that a single mutation of the delta
            subunit, L332P, allows the synapse in slow muscles to function but
            renders those in fast muscles almost nonfunctional.
REFERENCE   5  (bases 1 to 2962)
  AUTHORS   Rudell,J.C., Borges,L.S., Rudell,J.B., Beck,K.A. and Ferns,M.J.
  TITLE     Determinants in the beta and delta subunit cytoplasmic loop
            regulate Golgi trafficking and surface expression of the muscle
            acetylcholine receptor
  JOURNAL   J Biol Chem 289 (1), 203-214 (2014)
   PUBMED   24240098
  REMARK    GeneRIF: These findings identify novel Golgi retention signals in
            the beta and delta subunit loops that regulate surface trafficking
            of assembled AChR and may help prevent surface expression of
            unassembled subunits.
REFERENCE   6  (bases 1 to 2962)
  AUTHORS   Kreienkamp,H.J., Maeda,R.K., Sine,S.M. and Taylor,P.
  TITLE     Intersubunit contacts governing assembly of the mammalian nicotinic
            acetylcholine receptor
  JOURNAL   Neuron 14 (3), 635-644 (1995)
   PUBMED   7695910
REFERENCE   7  (bases 1 to 2962)
  AUTHORS   Pasteris,N.G., Trask,B.J., Sheldon,S. and Gorski,J.L.
  TITLE     Discordant phenotype of two overlapping deletions involving the
            PAX3 gene in chromosome 2q35
  JOURNAL   Hum Mol Genet 2 (7), 953-959 (1993)
   PUBMED   8103404
REFERENCE   8  (bases 1 to 2962)
  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   9  (bases 1 to 2962)
  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   10 (bases 1 to 2962)
  AUTHORS   Luther,M.A., Schoepfer,R., Whiting,P., Casey,B., Blatt,Y.,
            Montal,M.S., Montal,M. and Linstrom,J.
  TITLE     A muscle acetylcholine receptor is expressed in the human
            cerebellar medulloblastoma cell line TE671
  JOURNAL   J Neurosci 9 (3), 1082-1096 (1989)
   PUBMED   2564429
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300109.1, X55019.1 and
            AC092165.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_000751.2.
            
            Summary: The acetylcholine receptor of muscle has 5 subunits of 4
            different types: 2 alpha and 1 each of beta, gamma and delta
            subunits. After acetylcholine binding, the receptor undergoes an
            extensive conformation change that affects all subunits and leads
            to opening of an ion-conducting channel across the plasma membrane.
            Defects in this gene are a cause of multiple pterygium syndrome
            lethal type (MUPSL), congenital myasthenic syndrome slow-channel
            type (SCCMS), and congenital myasthenic syndrome fast-channel type
            (FCCMS). Several transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK291526.1, X55019.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465413 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000258385.8/ ENSP00000258385.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-52                AK300109.1         1-52
            53-1793             X55019.1           1-1741
            1794-2962           AC092165.4         64563-65731
FEATURES             Location/Qualifiers
     source          1..2962
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.1"
     gene            1..2962
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="cholinergic receptor nicotinic delta subunit"
                     /db_xref="GeneID:1144"
                     /db_xref="HGNC:HGNC:1965"
                     /db_xref="MIM:100720"
     exon            1..108
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1610
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; cholinergic receptor, nicotinic, delta
                     polypeptide; acetylcholine receptor subunit delta;
                     acetylcholine receptor, nicotinic, delta (muscle);
                     cholinergic receptor, nicotinic, delta (muscle);
                     cholinergic receptor, nicotinic delta"
                     /codon_start=1
                     /product="acetylcholine receptor subunit delta isoform 1
                     precursor"
                     /protein_id="NP_000742.1"
                     /db_xref="CCDS:CCDS2494.1"
                     /db_xref="GeneID:1144"
                     /db_xref="HGNC:HGNC:1965"
                     /db_xref="MIM:100720"
                     /translation="MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRP
                     VAHKEESVDVALALTLSNLISLKEVEETLTTNVWIEHGWTDNRLKWNAEEFGNISVLR
                     LPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVYWLPPAIFRSSCPISVTYFPF
                     DWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGEWEIVHRPA
                     RVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGE
                     KTSVAISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIH
                     FRTPSTHVLSEGVKKLFLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFL
                     LKSRSDLMFEKQSERHGLARRLTTARRPPASSEQAQQELFNELKPAVDGANFIVNHMR
                     DQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFLQGVYNQPPPQPFPGDPYS
                     YNVQDKRFI"
     exon            109..254
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            255..299
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            300..409
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            410..565
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            566..675
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            676..876
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            877..988
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1103
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1104..1308
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1427
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..2962
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2938..2943
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="hexamer: AATAAA"
     polyA_site      2962
                     /gene="CHRND"
                     /gene_synonym="ACHRD; CMS2A; CMS3A; CMS3B; CMS3C; FCCMS;
                     SCCMS"
                     /note="major polyA site"
ORIGIN      
        1 attccacagc cctgtagaca ggaggggcag atgcacgtcc cagtcagagg gatgggatgg
       61 aggggccagt gctgacactg gggctgctgg ctgccctggc ggtgtgtggc agctgggggc
      121 tgaacgagga ggagcggctg atccggcacc tgtttcaaga gaagggctac aacaaggagc
      181 tccggcccgt ggcacacaaa gaggagagtg tggacgttgc cctggccctc acactctcca
      241 acctcatctc cctgaaagaa gttgaggaga ccctcactac caatgtgtgg atagagcacg
      301 gctggacaga caaccggctg aagtggaatg ctgaagaatt tggaaacatc agtgtcctgc
      361 gcctcccccc ggacatggtg tggctcccag agattgtgct ggagaacaac aatgacggct
      421 ccttccagat ctcctactcc tgcaacgtgc ttgtctacca ctacggcttc gtgtactggc
      481 tgccacctgc catcttccgc tcctcctgcc ccatctctgt cacctatttc cccttcgact
      541 ggcagaactg ctccctcaag ttcagttccc tcaagtatac ggccaaagag atcaccctga
      601 gcctgaaaca ggatgccaag gagaaccgca cctaccccgt ggagtggatc atcattgatc
      661 ctgaaggctt cacagagaac ggggagtggg agatagtcca ccggccggcc agggtcaacg
      721 tggaccccag agcccctctg gacagcccca gccgccagga catcaccttc tacctcatca
      781 tccgccgcaa gcccctcttc tacatcatca acatcctggt gccctgcgtg ctcatctcct
      841 tcatggtcaa cctggtcttc tacctaccgg ctgacagtgg tgagaagaca tcagtggcca
      901 tctcggtgct cctggctcag tctgtcttcc tgctgctcat ctccaagcgt ctgcctgcca
      961 catccatggc catccccctt atcggcaagt tcctgctctt cggcatggtg ctggtcacca
     1021 tggttgtggt gatctgtgtc atcgtgctca acatccactt ccgaacaccc agcacccatg
     1081 tgctgtctga gggggtcaag aagctcttcc tggagaccct gccggagctc ctgcacatgt
     1141 cccgcccagc agaggatgga cccagccctg gggccctggt gcggaggagc agctccctgg
     1201 gatacatctc caaggccgag gagtacttcc tgctcaagtc ccgcagtgac ctcatgttcg
     1261 agaagcagtc agagcggcat gggctggcca ggcgcctcac cactgcacgc cggcccccag
     1321 caagctctga gcaggcccag caggaactct tcaatgagct gaagccagct gtggatgggg
     1381 caaacttcat tgttaaccac atgagggacc agaacaatta caatgaggag aaagacagct
     1441 ggaaccgagt ggcccgcaca gtggaccgcc tctgcctgtt tgtggtgacg cctgtcatgg
     1501 tggtgggcac agcctggatc ttcctgcagg gcgtttacaa ccagccacca ccccagcctt
     1561 ttcctgggga cccctactcc tacaacgtgc aggacaagcg cttcatctag ggtgggcctg
     1621 ttggggagcc aggagacagc agggtctgag agaggagcca cagtccctaa tgacacccac
     1681 tcctagccct gaggctcgtg cccctcagac tggggaagag tccaaggaag ggagggagca
     1741 gccactcctc aatgctcaat ggctcccctg aaatcaagac aggggccacc cgagatggtc
     1801 tgagggtgga catcggctac agtgggtggg caggacgatt tggggggagg cccgaggctg
     1861 gctcaggggc cagggaggag gccactcagg gtggcctcag ggggagagct ctgatagggg
     1921 tgagacagat agggcccctt ctctgcttct cctcccccaa ggtgtggggt agagcaggca
     1981 ggaatctgcg ccttcactct ctggcccctc cagcctccct cttcctacct acccttcaac
     2041 ctcaggcttc tgaggcctca cctgggactg aggttgagga cacctccctc cctccagacc
     2101 ccagagtatc ctttcctagc tctttctgcc ttgacctctc tgcctaggtc cctttgggaa
     2161 gttgaggact ggagtggaaa ggtcaggatc gacatccaca aagacttggg gtcagcctga
     2221 ggttgcacac acaatcctag aggaccagaa cgcagcacct ctccccaaag ggtccctgcc
     2281 ccccagcacc tactcctctc caaattaggg ttgtcatgca ttatttgggg catacatatt
     2341 ctaaaaaatc attcgttgtt tctctgaaat ttgtccccta tttttatttg ctaaatctag
     2401 caaccctatc ccaaaggcag cctccactca atcttatcct gagggccaaa ggccaaggct
     2461 gcaggaattg ggagacaagg gtctgtttgt atggtggtcc acctccaaga tggccccagt
     2521 gatgcccagt attcacaccc ttgtgcagtc ccctcactct gtaccagggt gggtctgggt
     2581 aaccaataga atgaggcaga agtgatggta cctcacttcc cagatttggt taggaaagac
     2641 actatggcct ctttcttgct cattagccct cattctcaca tcagttggat ctctcacttt
     2701 ggggaagcca gctggcatgt taaggagccc tatggagagg cccacatggc aaggaactaa
     2761 ggcctcctgc caacagccac gtgagtgaat gtggaagtgg atcctctgcc ccagtagggc
     2821 cttcggatga gatcacagcc cagtagacat cttatgtgca gccccatgaa agtccctaag
     2881 ccagaaccac cagctaagtg actcctggat tcctgacccc cagaaactgt gtgagataat
     2941 aaatgtgtgt tgttttaagt ga
//
