LOCUS       NM_001424177            4686 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens atrophin 1 (ATN1), transcript variant 4, mRNA.
ACCESSION   NM_001424177
VERSION     NM_001424177.1
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 4686)
  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 4686)
  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 4686)
  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 4686)
  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 4686)
  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 4686)
  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 4686)
  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 4686)
  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 4686)
  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 4686)
  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.
            
            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 :: ERR4352442.113343.1,
                                           SRR14038194.2704876.1 [ECO:0000332]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-426               U47924.1           139968-140393
            427-599             U47924.1           145865-146037
            600-737             U47924.1           146185-146322
            738-851             U47924.1           146474-146587
            852-2866            U47924.1           147556-149570
            2867-3089           U47924.1           149854-150076
            3090-3786           U47924.1           150490-151186
            3787-3930           U47924.1           152889-153032
            3931-4111           U47924.1           153383-153563
            4112-4686           U47924.1           153756-154330
FEATURES             Location/Qualifiers
     source          1..4686
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..4686
                     /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..426
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            427..599
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     CDS             573..4145
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="isoform 1 is encoded by transcript variant 4;
                     dentatorubral-pallidoluysian atrophy protein"
                     /codon_start=1
                     /product="atrophin-1 isoform 1"
                     /protein_id="NP_001411106.1"
                     /db_xref="GeneID:1822"
                     /db_xref="HGNC:HGNC:3033"
                     /db_xref="MIM:607462"
                     /translation="MKTRQNKDSMSMRSGRKKEAPGPREELRSRGRASPGGVSTSSSD
                     GKAEKSRQTAKKARVEEASTPKVNKQGRSEEISESESEETNAPKKTKTEQELPRPQSP
                     SDLDSLDGRSLNDDGSSDPRDIDQDNRSTSPSIYSPGSVENDSDSSSGLSQGPARPYH
                     PPPLFPPSPQPPDSTPRQPEASFEPHPSVTPTGYHAPMEPPTSRMFQAPPGAPPPHPQ
                     LYPGGTGGVLSGPPMGPKGGGAASSVGGPNGGKQHPPPTTPISVSSSGASGAPPTKPP
                     TTPVGGGNLPSAPPPANFPHVTPNLPPPPALRPLNNASASPPGLGAQPLPGHLPSPHA
                     MGQGMGGLPPGPEKGPTLAPSPHSLPPASSSAPAPPMRFPYSSSSSSSAAASSSSSSS
                     SSSASPFPASQALPSYPHSFPPPTSLSVSNQPPKYTQPSLPSQAVWSQGPPPPPPYGR
                     LLANSNAHPGPFPPSTGAQSTAHPPVSTHHHHHQQQQQQQQQQQQQQQQQQQHHGNSG
                     PPPPGAFPHPLEGGSSHHAHPYAMSPSLGSLRPYPPGPAHLPPPHSQVSYSQAGPNGP
                     PVSSSSNSSSSTSQGSYPCSHPSPSQGPQGAPYPFPPVPTVTTSSATLSTVIATVASS
                     PAGYKTASPPGPPPYGKRAPSPGAYKTATPPGYKPGSPPSFRTGTPPGYRGTSPPAGP
                     GTFKPGSPTVGPGPLPPAGPSGLPSLPPPPAAPASGPPLSATQIKQEPAEEYETPESP
                     VPPARSPSPPPKVVDVPSHASQSARFNKHLDRGFNSCARSDLYFVPLEGSKLAKKRAD
                     LVEKVRREAEQRAREEKEREREREREKEREREKERELERSVKLAQEGRAPVECPSLGP
                     VPHRPPFEPGSAVATVPPYLGPDTPALRTLSEYARPHVMSPGNRNHPFYVPLGAVDPG
                     LLGYNVPALYSSDPAAREREREARERDLRDRLKPGFEVKPSELEPLHGVPGPGLDPFP
                     RHGGLALQPGPPGLHPFPFHPSLGPLERERLALAAGPALRPDMSYAERLAAERQHAER
                     VAALGNDPLARLQMLNVTPHHHQHSHIHSHLHLHQQDAIHAASASVHPLIDPLASGSH
                     LTRIPYPAGTLPNPLLPHPLHENEVLRHQLFAAPYRDLPASLSAPMSAAHQLQAMHAQ
                     SAELQRLALEQQQWLHAHHPLHSVPLPAQEDYYSHLKKESDKPL"
     exon            600..737
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            738..851
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            852..2866
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            2867..3089
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3090..3786
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3787..3930
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3931..4111
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            4112..4686
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4657..4662
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="hexamer: AACAAA"
     polyA_site      4686
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="major polyA site"
ORIGIN      
        1 gggcgaggcg gccgaggggc ccgggatcgc gcgggtgcgg gctgcgctag gcgggcgcgg
       61 gcggcggcgg gtcggaaccg cgccgagggc cgggcgggcc gcggggccgg gcggcgcggc
      121 gggggcgggc ggcgcggccc ggggcattcc gggcggccag ggggaggcgg cgagcccggg
      181 gaggtgggga gcagagcggg gatcggggtt tgctccgggg gccggcgggc gattggggcc
      241 aggcggggaa aaggggggat gggggccgcc ctccgggggg gtcggggccg ccgccgccgt
      301 cgtcgcggcg gcgactgagg ccgagaagag gagagggggg cgggggagct gccgccgccg
      361 ccccccagag gcgccggagc ccggaatccc gctcggagcc agccagccgt cccgagctac
      421 cagcagatcc tgcaaaagtt ccaggtgccc acactggaaa cttggagatc ctgcttccca
      481 gaccacagct gtggggaact tggggtggag cagagaagtt tctgtattca gctgcccagg
      541 cagaggagaa tggggtctcc acagcctgaa gaatgaagac acgacagaat aaagactcga
      601 tgtcaatgag gagtggacgg aagaaagagg cccctgggcc ccgggaagaa ctgagatcga
      661 ggggccgggc ctcccctgga ggggtcagca cgtccagcag tgatggcaaa gctgagaagt
      721 ccaggcagac agccaagaag gcccgagtag aggaagcctc caccccaaag gtcaacaagc
      781 agggtcggag tgaggagatc tcagagagtg aaagtgagga gaccaatgca ccaaaaaaga
      841 ccaaaactga gcaggaactc cctcggccac agtctccctc cgatctggat agcttggacg
      901 ggcggagcct taatgatgat ggcagcagcg accctaggga tatcgaccag gacaaccgaa
      961 gcacgtcccc cagtatctac agccctggaa gtgtggagaa tgactctgac tcatcttctg
     1021 gcctgtccca gggcccagcc cgcccctacc acccacctcc actctttcct ccttcccctc
     1081 aaccgccaga cagcacccct cgacagccag aggctagctt tgaaccccat ccttctgtga
     1141 cacccactgg atatcatgct cccatggagc cccccacatc tcgaatgttc caggctcctc
     1201 ctggggcccc tccccctcac ccacagctct atcctggggg cactggtgga gttttgtctg
     1261 gacccccaat gggtcccaag gggggagggg ctgcctcatc agtggggggc cctaatgggg
     1321 gtaagcagca ccccccaccc actactccca tttcagtatc aagctctggg gctagtggtg
     1381 ctcccccaac aaagccgcct accactccag tgggtggtgg gaacctacct tctgctccac
     1441 caccagccaa cttcccccat gtgacaccga acctgcctcc cccacctgcc ctgagacccc
     1501 tcaacaatgc atcagcctct ccccctggcc tgggggccca accactacct ggtcatctgc
     1561 cctctcccca cgccatggga cagggtatgg gtggacttcc tcctggccca gagaagggcc
     1621 caactctggc tccttcaccc cactctctgc ctcctgcttc ctcttctgct ccagcgcccc
     1681 ccatgaggtt tccttattca tcctctagta gtagctctgc agcagcctcc tcttccagtt
     1741 cttcctcctc ttcctctgcc tcccccttcc cagcttccca ggcattgccc agctaccccc
     1801 actctttccc tcccccaaca agcctctctg tctccaatca gccccccaag tatactcagc
     1861 cttctctccc atcccaggct gtgtggagcc agggtccccc accacctcct ccctatggcc
     1921 gcctcttagc caacagcaat gcccatccag gccccttccc tccctctact ggggcccagt
     1981 ccaccgccca cccaccagtc tcaacacatc accatcacca ccagcaacag caacagcagc
     2041 agcagcagca gcagcagcag cagcagcagc agcagcagca tcacggaaac tctgggcccc
     2101 ctcctcctgg agcatttccc cacccactgg agggcggtag ctcccaccac gcacaccctt
     2161 acgccatgtc tccctccctg gggtctctga ggccctaccc accagggcca gcacacctgc
     2221 ccccacctca cagccaggtg tcctacagcc aagcaggccc caatggccct ccagtctctt
     2281 cctcttccaa ctcttcctct tccacttctc aagggtccta cccatgttca cacccctccc
     2341 cttcccaggg ccctcaaggg gcgccctacc ctttcccacc ggtgcctacg gtcaccacct
     2401 cttcggctac cctttccacg gtcattgcca ccgtggcttc ctcgccagca ggctacaaaa
     2461 cggcctcccc acctgggccc ccaccgtacg gaaagagagc cccgtccccg ggggcctaca
     2521 agacagccac cccacccgga tacaaacccg ggtcgcctcc ctccttccga acggggaccc
     2581 caccgggcta tcgaggaacc tcgccacctg caggcccagg gaccttcaag ccgggctcgc
     2641 ccaccgtggg acctgggccc ctgccacctg cggggccctc aggcctgcca tcgctgccac
     2701 caccacctgc ggcccctgcc tcagggccgc ccctgagcgc cacgcagatc aaacaggagc
     2761 cggctgagga gtatgagacc cccgagagcc cggtgccccc agcccgcagc ccctcgcccc
     2821 ctcccaaggt ggtagatgta cccagccatg ccagtcagtc tgccaggttc aacaaacacc
     2881 tggatcgcgg cttcaactcg tgcgcgcgca gcgacctgta cttcgtgcca ctggagggct
     2941 ccaagctggc caagaagcgg gccgacctgg tggagaaggt gcggcgcgag gccgagcagc
     3001 gcgcgcgcga agaaaaggag cgcgagcgcg agcgggaacg cgagaaagag cgcgagcgcg
     3061 agaaggagcg cgagcttgaa cgcagcgtga agttggctca ggagggccgt gctccggtgg
     3121 aatgcccatc tctgggccca gtgccccatc gccctccatt tgaaccgggc agtgcggtgg
     3181 ctacagtgcc cccctacctg ggtcctgaca ctccagcctt gcgcactctc agtgaatatg
     3241 cccggcctca tgtcatgtct cctggcaatc gcaaccatcc attctacgtg cccctggggg
     3301 cagtggaccc ggggctcctg ggttacaatg tcccggccct gtacagcagt gatccagctg
     3361 cccgggagag ggaacgggaa gcccgtgaac gagacctccg tgaccgcctc aagcctggct
     3421 ttgaggtgaa gcctagtgag ctggaacccc tacatggggt ccctgggccg ggcttggatc
     3481 cctttccccg acatgggggc ctggctctgc agcctggccc acctggcctg caccctttcc
     3541 cctttcatcc gagcctgggg cccctggagc gagaacgtct agcgctggca gctgggccag
     3601 ccctgcggcc tgacatgtcc tatgctgagc ggctggcagc tgagaggcag cacgcagaaa
     3661 gggtggcggc cctgggcaat gacccactgg cccggctgca gatgctcaat gtgactcccc
     3721 atcaccacca gcactcccac atccactcgc acctgcacct gcaccagcaa gatgctatcc
     3781 atgcagcctc tgcctcggtg caccctctca ttgaccccct ggcctcaggg tctcacctta
     3841 cccggatccc ctacccagct ggaactctcc ctaaccccct gcttcctcac cctctgcacg
     3901 agaacgaagt tcttcgtcac cagctctttg ctgcccctta ccgggacctg ccggcctccc
     3961 tttctgcccc gatgtcagca gctcatcagc tgcaggccat gcacgcacag tcagctgagc
     4021 tgcagcgctt ggcgctggaa cagcagcagt ggctgcatgc ccatcacccg ctgcacagtg
     4081 tgccgctgcc tgcccaggag gactactaca gtcacctgaa gaaggaaagc gacaagccac
     4141 tgtagaacct gcgatcaaga gagcaccatg gctcctacat tggaccttgg agcaccccca
     4201 ccctcccccc accgtgccct tggcctgcca cccagagcca agagggtgct gctcagttgc
     4261 agggcctccg cagctggaca gagagtgggg gagggaggga cagacagaag gccaaggccc
     4321 gatgtggtgt gcagaggtgg ggaggtggcg aggatgggga cagaaagcgc acagaatctt
     4381 ggaccaggtc tctcttcctt gtcccccctg cttttctcct cccccatgcc caacccctgt
     4441 ggccgccgcc cctcccctgc cccgttggtg tgattatttc atctgttaga tgtggctgtt
     4501 ttgcgtagca tcgtgtgcca cccctgcccc tccccgatcc ctgtgtgcgc gccccctctg
     4561 caatgtatgc cccttgcccc ttccccacac taataattta tatatataaa tatctatatg
     4621 acgctcttaa aaaaacatcc caaccaaaac caaccaaaca aaaacatcct cacaactccc
     4681 caggaa
//
