LOCUS       NP_001931               1190 aa            linear   PRI 27-APR-2025
DEFINITION  atrophin-1 isoform 1 [Homo sapiens].
ACCESSION   NP_001931 NP_001411110
VERSION     NP_001931.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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  (residues 1 to 1190)
  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 (residues 1 to 1190)
  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
            NP_001411110.1, NP_001931.1.
            
            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 :: 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##
FEATURES             Location/Qualifiers
     source          1..1190
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     Protein         1..1190
                     /product="atrophin-1 isoform 1"
                     /note="dentatorubral-pallidoluysian atrophy protein"
                     /calculated_mol_wt=125284
     Region          1..1188
                     /region_name="Atrophin-1"
                     /note="Atrophin-1 family; pfam03154"
                     /db_xref="CDD:460830"
     Region          16..32
                     /region_name="Nuclear localization signal.
                     /evidence=ECO:0000269|PubMed:12464607"
                     /note="propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Site            34
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:20068231; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            77
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            79
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            101
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            103
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            107
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            109..110
                     /site_type="cleavage"
                     /note="Cleavage, by CASP-3.
                     /evidence=ECO:0000269|PubMed:10085113,
                     ECO:0000269|PubMed:9361003; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Region          484..502
                     /region_name="polyglutamine repeat"
                     /note="19Q repeat"
     Region          517..567
                     /region_name="Involved in binding BAIAP2"
                     /note="propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Region          622..767
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Site            632
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            641
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            653
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            661
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648,
                     ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Site            669
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            739
                     /site_type="phosphorylation"
                     /note="Phosphoserine, by MAPK8.
                     /evidence=ECO:0000269|PubMed:12812981; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            746
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Site            748
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18669648; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Region          785..862
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Region          879..894
                     /region_name="Required for interaction with FAT1.
                     /evidence=ECO:0000269|PubMed:19131340"
                     /note="propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Site            896
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     Region          1033..1041
                     /region_name="Nuclear export signal"
                     /note="propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Region          1049..1065
                     /region_name="HX repeat.
                     /evidence=ECO:0000269|PubMed:30827498"
                     /note="propagated from UniProtKB/Swiss-Prot (P54259.3)"
     Site            1115
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:O35126; propagated from
                     UniProtKB/Swiss-Prot (P54259.3)"
     CDS             1..1190
                     /gene="ATN1"
                     /gene_synonym="B37; CHEDDA; D12S755E; DRPLA; HRS; NOD"
                     /coded_by="NM_001940.4:589..4161"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /db_xref="CCDS:CCDS31734.1"
                     /db_xref="GeneID:1822"
                     /db_xref="HGNC:HGNC:3033"
                     /db_xref="MIM:607462"
ORIGIN      
        1 mktrqnkdsm smrsgrkkea pgpreelrsr graspggvst sssdgkaeks rqtakkarve
       61 eastpkvnkq grseeisese seetnapkkt kteqelprpq spsdldsldg rslnddgssd
      121 prdidqdnrs tspsiyspgs vendsdsssg lsqgparpyh ppplfppspq ppdstprqpe
      181 asfephpsvt ptgyhapmep ptsrmfqapp gappphpqly pggtggvlsg ppmgpkggga
      241 assvggpngg kqhpppttpi svsssgasga pptkppttpv gggnlpsapp panfphvtpn
      301 lppppalrpl nnasasppgl gaqplpghlp sphamgqgmg glppgpekgp tlapsphslp
      361 passsapapp mrfpysssss ssaaasssss sssssaspfp asqalpsyph sfppptslsv
      421 snqppkytqp slpsqavwsq gppppppygr llansnahpg pfppstgaqs tahppvsthh
      481 hhhqqqqqqq qqqqqqqqqq qqhhgnsgpp ppgafphple ggsshhahpy amspslgslr
      541 pyppgpahlp pphsqvsysq agpngppvss ssnsssstsq gsypcshpsp sqgpqgapyp
      601 fppvptvtts satlstviat vasspagykt asppgpppyg krapspgayk tatppgykpg
      661 sppsfrtgtp pgyrgtsppa gpgtfkpgsp tvgpgplppa gpsglpslpp ppaapasgpp
      721 lsatqikqep aeeyetpesp vpparspspp pkvvdvpsha sqsarfnkhl drgfnscars
      781 dlyfvplegs klakkradlv ekvrreaeqr areekerere rerekerere kerelersvk
      841 laqegrapve cpslgpvphr ppfepgsava tvppylgpdt palrtlseya rphvmspgnr
      901 nhpfyvplga vdpgllgynv palyssdpaa rererearer dlrdrlkpgf evkpselepl
      961 hgvpgpgldp fprhgglalq pgppglhpfp fhpslgpler erlalaagpa lrpdmsyaer
     1021 laaerqhaer vaalgndpla rlqmlnvtph hhqhshihsh lhlhqqdaih aasasvhpli
     1081 dplasgshlt ripypagtlp npllphplhe nevlrhqlfa apyrdlpasl sapmsaahql
     1141 qamhaqsael qrlaleqqqw lhahhplhsv plpaqedyys hlkkesdkpl
//
