LOCUS       NM_001424179            4336 bp    mRNA    linear   PRI 03-DEC-2024
DEFINITION  Homo sapiens atrophin 1 (ATN1), transcript variant 6, mRNA.
ACCESSION   NM_001424179 NM_001424182
VERSION     NM_001424179.1
KEYWORDS    RefSeq.
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 4336)
  AUTHORS   Nowak,B., Kozlowska,E., Pawlik,W. and Fiszer,A.
  TITLE     Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian
            Atrophy
  JOURNAL   Mov Disord 38 (4), 526-536 (2023)
   PUBMED   36809552
  REMARK    GeneRIF: Atrophin-1 Function and Dysfunction in
            Dentatorubral-Pallidoluysian Atrophy.
            Review article
REFERENCE   2  (bases 1 to 4336)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (bases 1 to 4336)
  AUTHORS   Palmer,E.E., Whitton,C., Hashem,M.O., Clark,R.D., Ramanathan,S.,
            Starr,L.J., Velasco,D., De Dios,J.K., Singh,E., Cormier-Daire,V.,
            Chopra,M., Rodan,L.H., Nellaker,C., Lakhani,S., Mallack,E.J.,
            Panzer,K., Sidhu,A., Wentzensen,I.M., Lacombe,D., Michaud,V. and
            Alkuraya,F.S.
  TITLE     CHEDDA syndrome is an underrecognized neurodevelopmental disorder
            with a highly restricted ATN1 mutation spectrum
  JOURNAL   Clin Genet 100 (4), 468-477 (2021)
   PUBMED   34212383
  REMARK    GeneRIF: CHEDDA syndrome is an underrecognized neurodevelopmental
            disorder with a highly restricted ATN1 mutation spectrum.
REFERENCE   4  (bases 1 to 4336)
  AUTHORS   Onodera,O., Oyake,M., Takano,H., Ikeuchi,T., Igarashi,S. and
            Tsuji,S.
  TITLE     Molecular cloning of a full-length cDNA for
            dentatorubral-pallidoluysian atrophy and regional expressions of
            the expanded alleles in the CNS
  JOURNAL   Am J Hum Genet 57 (5), 1050-1060 (1995)
   PUBMED   7485154
REFERENCE   5  (bases 1 to 4336)
  AUTHORS   Yazawa,I., Nukina,N., Hashida,H., Goto,J., Yamada,M. and
            Kanazawa,I.
  TITLE     Abnormal gene product identified in hereditary
            dentatorubral-pallidoluysian atrophy (DRPLA) brain
  JOURNAL   Nat Genet 10 (1), 99-103 (1995)
   PUBMED   7647802
REFERENCE   6  (bases 1 to 4336)
  AUTHORS   Nagafuchi,S., Yanagisawa,H., Ohsaki,E., Shirayama,T., Tadokoro,K.,
            Inoue,T. and Yamada,M.
  TITLE     Structure and expression of the gene responsible for the triplet
            repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA)
  JOURNAL   Nat Genet 8 (2), 177-182 (1994)
   PUBMED   7842016
REFERENCE   7  (bases 1 to 4336)
  AUTHORS   Whitton,C., Palmer,E. and Alkuraya,F.
  TITLE     ATN1-Related Neurodevelopmental Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36007104
REFERENCE   8  (bases 1 to 4336)
  AUTHORS   Prades,S. PhD, Melo de Gusmao,C. MD, Grimaldi,S. MD,
            Shiloh-Malawsky,Y. MD, Felton T,M.S. CGC and Houlden H,M.D. PhD.
  TITLE     DRPLA
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301664
REFERENCE   9  (bases 1 to 4336)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   10 (bases 1 to 4336)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U47924.1.
            
            On Dec 3, 2024 this sequence version replaced NM_001424182.1.
            
            Summary: Dentatorubral pallidoluysian atrophy (DRPLA) is a rare
            neurodegenerative disorder characterized by cerebellar ataxia,
            myoclonic epilepsy, choreoathetosis, and dementia. The disorder is
            related to the expansion from 7-35 copies to 49-93 copies of a
            trinucleotide repeat (CAG/CAA) within this gene. The encoded
            protein includes a serine repeat and a region of alternating acidic
            and basic amino acids, as well as the variable glutamine repeat.
            Alternative splicing results in two transcripts variants that
            encode the same protein. [provided by RefSeq, Jul 2016].
            
            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 :: SRR14038193.3293767.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                U47924.1           136468-136546
            80-252              U47924.1           145865-146037
            253-390             U47924.1           146185-146322
            391-504             U47924.1           146474-146587
            505-2516            U47924.1           147559-149570
            2517-2739           U47924.1           149854-150076
            2740-3436           U47924.1           150490-151186
            3437-3580           U47924.1           152889-153032
            3581-3761           U47924.1           153383-153563
            3762-4336           U47924.1           153756-154330
FEATURES             Location/Qualifiers
     source          1..4336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..4336
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="atrophin 1"
                     /db_xref="GeneID:1822"
                     /db_xref="HGNC:HGNC:3033"
                     /db_xref="MIM:607462"
     exon            1..79
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            80..252
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     CDS             226..3795
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="isoform 2 is encoded by transcript variant 6;
                     dentatorubral-pallidoluysian atrophy protein"
                     /codon_start=1
                     /product="atrophin-1 isoform 2"
                     /protein_id="NP_001411108.1"
                     /db_xref="GeneID:1822"
                     /db_xref="HGNC:HGNC:3033"
                     /db_xref="MIM:607462"
                     /translation="MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSD
                     GKAEKSRQTAKKARVEEASTPKVNKQGRSEEISESESEETNAPKKTKTEELPRPQSPS
                     DLDSLDGRSLNDDGSSDPRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYHP
                     PPLFPPSPQPPDSTPRQPEASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQL
                     YPGGTGGVLSGPPMGPKGGGAASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPPT
                     TPVGGGNLPSAPPPANFPHVTPNLPPPPALRPLNNASASPPGLGAQPLPGHLPSPHAM
                     GQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASSSSSSSS
                     SSASPFPASQALPSYPHSFPPPTSLSVSNQPPKYTQPSLPSQAVWSQGPPPPPPYGRL
                     LANSNAHPGPFPPSTGAQSTAHPPVSTHHHHHQQQQQQQQQQQQQQQQQQQHHGNSGP
                     PPPGAFPHPLEGGSSHHAHPYAMSPSLGSLRPYPPGPAHLPPPHSQVSYSQAGPNGPP
                     VSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYPFPPVPTVTTSSATLSTVIATVASSP
                     AGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPGSPPSFRTGTPPGYRGTSPPAGPG
                     TFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPPLSATQIKQEPAEEYETPESPV
                     PPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARSDLYFVPLEGSKLAKKRADL
                     VEKVRREAEQRAREEKEREREREREKEREREKERELERSVKLAQEGRAPVECPSLGPV
                     PHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNRNHPFYVPLGAVDPGL
                     LGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPLHGVPGPGLDPFPR
                     HGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAERLAAERQHAERV
                     AALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLIDPLASGSHL
                     TRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQLQAMHAQS
                     AELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL"
     exon            253..390
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            391..504
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            505..2516
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            2517..2739
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            2740..3436
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3437..3580
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3581..3761
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3762..4336
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4307..4312
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="hexamer: AACAAA"
     polyA_site      4336
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="major polyA site"
ORIGIN      
        1 gcaggacgcc atactggacg ccaagtggga ggaacttcaa ggctgtcccc tgcgggcctc
       61 ccgctctgct tctgcgaaga tcctgcaaaa gttccaggtg cccacactgg aaacttggag
      121 atcctgcttc ccagaccaca gctgtgggga acttggggtg gagcagagaa gtttctgtat
      181 tcagctgccc aggcagagga gaatggggtc tccacagcct gaagaatgaa gacacgacag
      241 aataaagact cgatgtcaat gaggagtgga cggaagaaag aggcccctgg gccccgggaa
      301 gaactgagat cgaggggccg ggcctcccct ggaggggtca gcacgtccag cagtgatggc
      361 aaagctgaga agtccaggca gacagccaag aaggcccgag tagaggaagc ctccacccca
      421 aaggtcaaca agcagggtcg gagtgaggag atctcagaga gtgaaagtga ggagaccaat
      481 gcaccaaaaa agaccaaaac tgaggaactc cctcggccac agtctccctc cgatctggat
      541 agcttggacg ggcggagcct taatgatgat ggcagcagcg accctaggga tatcgaccag
      601 gacaaccgaa gcacgtcccc cagtatctac agccctggaa gtgtggagaa tgactctgac
      661 tcatcttctg gcctgtccca gggcccagcc cgcccctacc acccacctcc actctttcct
      721 ccttcccctc aaccgccaga cagcacccct cgacagccag aggctagctt tgaaccccat
      781 ccttctgtga cacccactgg atatcatgct cccatggagc cccccacatc tcgaatgttc
      841 caggctcctc ctggggcccc tccccctcac ccacagctct atcctggggg cactggtgga
      901 gttttgtctg gacccccaat gggtcccaag gggggagggg ctgcctcatc agtggggggc
      961 cctaatgggg gtaagcagca ccccccaccc actactccca tttcagtatc aagctctggg
     1021 gctagtggtg ctcccccaac aaagccgcct accactccag tgggtggtgg gaacctacct
     1081 tctgctccac caccagccaa cttcccccat gtgacaccga acctgcctcc cccacctgcc
     1141 ctgagacccc tcaacaatgc atcagcctct ccccctggcc tgggggccca accactacct
     1201 ggtcatctgc cctctcccca cgccatggga cagggtatgg gtggacttcc tcctggccca
     1261 gagaagggcc caactctggc tccttcaccc cactctctgc ctcctgcttc ctcttctgct
     1321 ccagcgcccc ccatgaggtt tccttattca tcctctagta gtagctctgc agcagcctcc
     1381 tcttccagtt cttcctcctc ttcctctgcc tcccccttcc cagcttccca ggcattgccc
     1441 agctaccccc actctttccc tcccccaaca agcctctctg tctccaatca gccccccaag
     1501 tatactcagc cttctctccc atcccaggct gtgtggagcc agggtccccc accacctcct
     1561 ccctatggcc gcctcttagc caacagcaat gcccatccag gccccttccc tccctctact
     1621 ggggcccagt ccaccgccca cccaccagtc tcaacacatc accatcacca ccagcaacag
     1681 caacagcagc agcagcagca gcagcagcag cagcagcagc agcagcagca tcacggaaac
     1741 tctgggcccc ctcctcctgg agcatttccc cacccactgg agggcggtag ctcccaccac
     1801 gcacaccctt acgccatgtc tccctccctg gggtctctga ggccctaccc accagggcca
     1861 gcacacctgc ccccacctca cagccaggtg tcctacagcc aagcaggccc caatggccct
     1921 ccagtctctt cctcttccaa ctcttcctct tccacttctc aagggtccta cccatgttca
     1981 cacccctccc cttcccaggg ccctcaaggg gcgccctacc ctttcccacc ggtgcctacg
     2041 gtcaccacct cttcggctac cctttccacg gtcattgcca ccgtggcttc ctcgccagca
     2101 ggctacaaaa cggcctcccc acctgggccc ccaccgtacg gaaagagagc cccgtccccg
     2161 ggggcctaca agacagccac cccacccgga tacaaacccg ggtcgcctcc ctccttccga
     2221 acggggaccc caccgggcta tcgaggaacc tcgccacctg caggcccagg gaccttcaag
     2281 ccgggctcgc ccaccgtggg acctgggccc ctgccacctg cggggccctc aggcctgcca
     2341 tcgctgccac caccacctgc ggcccctgcc tcagggccgc ccctgagcgc cacgcagatc
     2401 aaacaggagc cggctgagga gtatgagacc cccgagagcc cggtgccccc agcccgcagc
     2461 ccctcgcccc ctcccaaggt ggtagatgta cccagccatg ccagtcagtc tgccaggttc
     2521 aacaaacacc tggatcgcgg cttcaactcg tgcgcgcgca gcgacctgta cttcgtgcca
     2581 ctggagggct ccaagctggc caagaagcgg gccgacctgg tggagaaggt gcggcgcgag
     2641 gccgagcagc gcgcgcgcga agaaaaggag cgcgagcgcg agcgggaacg cgagaaagag
     2701 cgcgagcgcg agaaggagcg cgagcttgaa cgcagcgtga agttggctca ggagggccgt
     2761 gctccggtgg aatgcccatc tctgggccca gtgccccatc gccctccatt tgaaccgggc
     2821 agtgcggtgg ctacagtgcc cccctacctg ggtcctgaca ctccagcctt gcgcactctc
     2881 agtgaatatg cccggcctca tgtcatgtct cctggcaatc gcaaccatcc attctacgtg
     2941 cccctggggg cagtggaccc ggggctcctg ggttacaatg tcccggccct gtacagcagt
     3001 gatccagctg cccgggagag ggaacgggaa gcccgtgaac gagacctccg tgaccgcctc
     3061 aagcctggct ttgaggtgaa gcctagtgag ctggaacccc tacatggggt ccctgggccg
     3121 ggcttggatc cctttccccg acatgggggc ctggctctgc agcctggccc acctggcctg
     3181 caccctttcc cctttcatcc gagcctgggg cccctggagc gagaacgtct agcgctggca
     3241 gctgggccag ccctgcggcc tgacatgtcc tatgctgagc ggctggcagc tgagaggcag
     3301 cacgcagaaa gggtggcggc cctgggcaat gacccactgg cccggctgca gatgctcaat
     3361 gtgactcccc atcaccacca gcactcccac atccactcgc acctgcacct gcaccagcaa
     3421 gatgctatcc atgcagcctc tgcctcggtg caccctctca ttgaccccct ggcctcaggg
     3481 tctcacctta cccggatccc ctacccagct ggaactctcc ctaaccccct gcttcctcac
     3541 cctctgcacg agaacgaagt tcttcgtcac cagctctttg ctgcccctta ccgggacctg
     3601 ccggcctccc tttctgcccc gatgtcagca gctcatcagc tgcaggccat gcacgcacag
     3661 tcagctgagc tgcagcgctt ggcgctggaa cagcagcagt ggctgcatgc ccatcacccg
     3721 ctgcacagtg tgccgctgcc tgcccaggag gactactaca gtcacctgaa gaaggaaagc
     3781 gacaagccac tgtagaacct gcgatcaaga gagcaccatg gctcctacat tggaccttgg
     3841 agcaccccca ccctcccccc accgtgccct tggcctgcca cccagagcca agagggtgct
     3901 gctcagttgc agggcctccg cagctggaca gagagtgggg gagggaggga cagacagaag
     3961 gccaaggccc gatgtggtgt gcagaggtgg ggaggtggcg aggatgggga cagaaagcgc
     4021 acagaatctt ggaccaggtc tctcttcctt gtcccccctg cttttctcct cccccatgcc
     4081 caacccctgt ggccgccgcc cctcccctgc cccgttggtg tgattatttc atctgttaga
     4141 tgtggctgtt ttgcgtagca tcgtgtgcca cccctgcccc tccccgatcc ctgtgtgcgc
     4201 gccccctctg caatgtatgc cccttgcccc ttccccacac taataattta tatatataaa
     4261 tatctatatg acgctcttaa aaaaacatcc caaccaaaac caaccaaaca aaaacatcct
     4321 cacaactccc caggaa
//
