LOCUS       NM_001940               4702 bp    mRNA    linear   PRI 27-DEC-2024
DEFINITION  Homo sapiens atrophin 1 (ATN1), transcript variant 2, mRNA.
ACCESSION   NM_001940 NM_001424181
VERSION     NM_001940.4
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 4702)
  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 4702)
  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 4702)
  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 4702)
  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 4702)
  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 4702)
  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 4702)
  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 4702)
  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 4702)
  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 4702)
  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, BE142829.1, D31840.1,
            BQ957462.1, BQ897715.1, AW411230.1 and BQ448220.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Dec 3, 2024 this sequence version replaced
            NM_001424181.1, NM_001940.3.
            
            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 :: D31840.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000396684.3/ ENSP00000379915.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-358               U47924.1           139968-140325
            359-718             BE142829.1         27-386
            719-1262            D31840.1           369-912
            1263-1681           BQ957462.1         368-786
            1682-1967           D31840.1           1332-1617
            1968-2740           BQ897715.1         1-773
            2741-3682           D31840.1           2376-3317
            3683-3879           AW411230.1         525-721
            3880-4257           D31840.1           3515-3892
            4258-4702           BQ448220.1         17-461              c
FEATURES             Location/Qualifiers
     source          1..4702
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..4702
                     /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..615
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     CDS             589..4161
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="isoform 1 is encoded by transcript variant 2;
                     dentatorubral-pallidoluysian atrophy protein"
                     /codon_start=1
                     /product="atrophin-1 isoform 1"
                     /protein_id="NP_001931.2"
                     /db_xref="CCDS:CCDS31734.1"
                     /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            616..753
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            754..867
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            868..2882
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            2883..3105
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3106..3802
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3803..3946
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            3947..4127
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     exon            4128..4702
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4673..4678
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /note="hexamer: AACAAA"
     polyA_site      4702
                     /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 cagcaggttt cattgaaaac agatcctgca aaagttccag gtgcccacac tggaaacttg
      481 gagatcctgc ttcccagacc acagctgtgg ggaacttggg gtggagcaga gaagtttctg
      541 tattcagctg cccaggcaga ggagaatggg gtctccacag cctgaagaat gaagacacga
      601 cagaataaag actcgatgtc aatgaggagt ggacggaaga aagaggcccc tgggccccgg
      661 gaagaactga gatcgagggg ccgggcctcc cctggagggg tcagcacgtc cagcagtgat
      721 ggcaaagctg agaagtccag gcagacagcc aagaaggccc gagtagagga agcctccacc
      781 ccaaaggtca acaagcaggg tcggagtgag gagatctcag agagtgaaag tgaggagacc
      841 aatgcaccaa aaaagaccaa aactgagcag gaactccctc ggccacagtc tccctccgat
      901 ctggatagct tggacgggcg gagccttaat gatgatggca gcagcgaccc tagggatatc
      961 gaccaggaca accgaagcac gtcccccagt atctacagcc ctggaagtgt ggagaatgac
     1021 tctgactcat cttctggcct gtcccagggc ccagcccgcc cctaccaccc acctccactc
     1081 tttcctcctt cccctcaacc gccagacagc acccctcgac agccagaggc tagctttgaa
     1141 ccccatcctt ctgtgacacc cactggatat catgctccca tggagccccc cacatctcga
     1201 atgttccagg ctcctcctgg ggcccctccc cctcacccac agctctatcc tgggggcact
     1261 ggtggagttt tgtctggacc cccaatgggt cccaaggggg gaggggctgc ctcatcagtg
     1321 gggggcccta atgggggtaa gcagcacccc ccacccacta ctcccatttc agtatcaagc
     1381 tctggggcta gtggtgctcc cccaacaaag ccgcctacca ctccagtggg tggtgggaac
     1441 ctaccttctg ctccaccacc agccaacttc ccccatgtga caccgaacct gcctccccca
     1501 cctgccctga gacccctcaa caatgcatca gcctctcccc ctggcctggg ggcccaacca
     1561 ctacctggtc atctgccctc tccccacgcc atgggacagg gtatgggtgg acttcctcct
     1621 ggcccagaga agggcccaac tctggctcct tcaccccact ctctgcctcc tgcttcctct
     1681 tctgctccag cgccccccat gaggtttcct tattcatcct ctagtagtag ctctgcagca
     1741 gcctcctctt ccagttcttc ctcctcttcc tctgcctccc ccttcccagc ttcccaggca
     1801 ttgcccagct acccccactc tttccctccc ccaacaagcc tctctgtctc caatcagccc
     1861 cccaagtata ctcagccttc tctcccatcc caggctgtgt ggagccaggg tcccccacca
     1921 cctcctccct atggccgcct cttagccaac agcaatgccc atccaggccc cttccctccc
     1981 tctactgggg cccagtccac cgcccaccca ccagtctcaa cacatcacca tcaccaccag
     2041 caacagcaac agcagcagca gcagcagcag cagcagcagc agcagcagca gcagcatcac
     2101 ggaaactctg ggccccctcc tcctggagca tttccccacc cactggaggg cggtagctcc
     2161 caccacgcac acccttacgc catgtctccc tccctggggt ctctgaggcc ctacccacca
     2221 gggccagcac acctgccccc acctcacagc caggtgtcct acagccaagc aggccccaat
     2281 ggccctccag tctcttcctc ttccaactct tcctcttcca cttctcaagg gtcctaccca
     2341 tgttcacacc cctccccttc ccagggccct caaggggcgc cctacccttt cccaccggtg
     2401 cctacggtca ccacctcttc ggctaccctt tccacggtca ttgccaccgt ggcttcctcg
     2461 ccagcaggct acaaaacggc ctccccacct gggcccccac cgtacggaaa gagagccccg
     2521 tccccggggg cctacaagac agccacccca cccggataca aacccgggtc gcctccctcc
     2581 ttccgaacgg ggaccccacc gggctatcga ggaacctcgc cacctgcagg cccagggacc
     2641 ttcaagccgg gctcgcccac cgtgggacct gggcccctgc cacctgcggg gccctcaggc
     2701 ctgccatcgc tgccaccacc acctgcggcc cctgcctcag ggccgcccct gagcgccacg
     2761 cagatcaaac aggagccggc tgaggagtat gagacccccg agagcccggt gcccccagcc
     2821 cgcagcccct cgccccctcc caaggtggta gatgtaccca gccatgccag tcagtctgcc
     2881 aggttcaaca aacacctgga tcgcggcttc aactcgtgcg cgcgcagcga cctgtacttc
     2941 gtgccactgg agggctccaa gctggccaag aagcgggccg acctggtgga gaaggtgcgg
     3001 cgcgaggccg agcagcgcgc gcgcgaagaa aaggagcgcg agcgcgagcg ggaacgcgag
     3061 aaagagcgcg agcgcgagaa ggagcgcgag cttgaacgca gcgtgaagtt ggctcaggag
     3121 ggccgtgctc cggtggaatg cccatctctg ggcccagtgc cccatcgccc tccatttgaa
     3181 ccgggcagtg cggtggctac agtgcccccc tacctgggtc ctgacactcc agccttgcgc
     3241 actctcagtg aatatgcccg gcctcatgtc atgtctcctg gcaatcgcaa ccatccattc
     3301 tacgtgcccc tgggggcagt ggacccgggg ctcctgggtt acaatgtccc ggccctgtac
     3361 agcagtgatc cagctgcccg ggagagggaa cgggaagccc gtgaacgaga cctccgtgac
     3421 cgcctcaagc ctggctttga ggtgaagcct agtgagctgg aacccctaca tggggtccct
     3481 gggccgggct tggatccctt tccccgacat gggggcctgg ctctgcagcc tggcccacct
     3541 ggcctgcacc ctttcccctt tcatccgagc ctggggcccc tggagcgaga acgtctagcg
     3601 ctggcagctg ggccagccct gcggcctgac atgtcctatg ctgagcggct ggcagctgag
     3661 aggcagcacg cagaaagggt ggcggccctg ggcaatgacc cactggcccg gctgcagatg
     3721 ctcaatgtga ctccccatca ccaccagcac tcccacatcc actcgcacct gcacctgcac
     3781 cagcaagatg ctatccatgc agcctctgcc tcggtgcacc ctctcattga ccccctggcc
     3841 tcagggtctc accttacccg gatcccctac ccagctggaa ctctccctaa ccccctgctt
     3901 cctcaccctc tgcacgagaa cgaagttctt cgtcaccagc tctttgctgc cccttaccgg
     3961 gacctgccgg cctccctttc tgccccgatg tcagcagctc atcagctgca ggccatgcac
     4021 gcacagtcag ctgagctgca gcgcttggcg ctggaacagc agcagtggct gcatgcccat
     4081 cacccgctgc acagtgtgcc gctgcctgcc caggaggact actacagtca cctgaagaag
     4141 gaaagcgaca agccactgta gaacctgcga tcaagagagc accatggctc ctacattgga
     4201 ccttggagca cccccaccct ccccccaccg tgcccttggc ctgccaccca gagccaagag
     4261 ggtgctgctc agttgcaggg cctccgcagc tggacagaga gtgggggagg gagggacaga
     4321 cagaaggcca aggcccgatg tggtgtgcag aggtggggag gtggcgagga tggggacaga
     4381 aagcgcacag aatcttggac caggtctctc ttccttgtcc cccctgcttt tctcctcccc
     4441 catgcccaac ccctgtggcc gccgcccctc ccctgccccg ttggtgtgat tatttcatct
     4501 gttagatgtg gctgttttgc gtagcatcgt gtgccacccc tgcccctccc cgatccctgt
     4561 gtgcgcgccc cctctgcaat gtatgcccct tgccccttcc ccacactaat aatttatata
     4621 tataaatatc tatatgacgc tcttaaaaaa acatcccaac caaaaccaac caaacaaaaa
     4681 catcctcaca actccccagg aa
//
