LOCUS       NM_013236               3294 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.
ACCESSION   NM_013236
VERSION     NM_013236.4
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 3294)
  AUTHORS   McFarland,K.N., Tiwari,A., Hashem,V., Zhang,L., Zeng,D.,
            Vincent,J., Arredondo,M.J., Johnson,K.L., Gan,S.R., Yabe,I.,
            Skov,L., Rasmussen,A. and Ashizawa,T.
  TITLE     Extended haplotype with rs41524547-G defines the ancestral origin
            of SCA10
  JOURNAL   Hum Mol Genet 33 (18), 1567-1574 (2024)
   PUBMED   38832639
  REMARK    GeneRIF: Extended haplotype with rs41524547-G defines the ancestral
            origin of SCA10.
REFERENCE   2  (bases 1 to 3294)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3294)
  AUTHORS   Waragai,M., Nagamitsu,S., Xu,W., Li,Y.J., Lin,X. and Ashizawa,T.
  TITLE     Ataxin 10 induces neuritogenesis via interaction with G-protein
            beta2 subunit
  JOURNAL   J Neurosci Res 83 (7), 1170-1178 (2006)
   PUBMED   16498633
REFERENCE   4  (bases 1 to 3294)
  AUTHORS   Marz,P., Probst,A., Lang,S., Schwager,M., Rose-John,S., Otten,U.
            and Ozbek,S.
  TITLE     Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative
            disorder protein, is essential for survival of cerebellar neurons
  JOURNAL   J Biol Chem 279 (34), 35542-35550 (2004)
   PUBMED   15201271
REFERENCE   5  (bases 1 to 3294)
  AUTHORS   Matsuura,T., Yamagata,T., Burgess,D.L., Rasmussen,A., Grewal,R.P.,
            Watase,K., Khajavi,M., McCall,A.E., Davis,C.F., Zu,L., Achari,M.,
            Pulst,S.M., Alonso,E., Noebels,J.L., Nelson,D.L., Zoghbi,H.Y. and
            Ashizawa,T.
  TITLE     Large expansion of the ATTCT pentanucleotide repeat in
            spinocerebellar ataxia type 10
  JOURNAL   Nat Genet 26 (2), 191-194 (2000)
   PUBMED   11017075
REFERENCE   6  (bases 1 to 3294)
  AUTHORS   Zu,L., Figueroa,K.P., Grewal,R. and Pulst,S.M.
  TITLE     Mapping of a new autosomal dominant spinocerebellar ataxia to
            chromosome 22
  JOURNAL   Am J Hum Genet 64 (2), 594-599 (1999)
   PUBMED   9973298
REFERENCE   7  (bases 1 to 3294)
  AUTHORS   Grewal,R.P., Tayag,E., Figueroa,K.P., Zu,L., Durazo,A., Nunez,C.
            and Pulst,S.M.
  TITLE     Clinical and genetic analysis of a distinct autosomal dominant
            spinocerebellar ataxia
  JOURNAL   Neurology 51 (5), 1423-1426 (1998)
   PUBMED   9818872
REFERENCE   8  (bases 1 to 3294)
  AUTHORS   Matsuura,T. and Ashizawa,T.
  TITLE     Spinocerebellar Ataxia Type 10
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301354
REFERENCE   9  (bases 1 to 3294)
  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
REFERENCE   10 (bases 1 to 3294)
  AUTHORS   Harding,A.E.
  TITLE     Clinical features and classification of inherited ataxias
  JOURNAL   Adv Neurol 61, 1-14 (1993)
   PUBMED   8421960
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB035174.1, BC007508.2,
            AK095309.1, DB548216.1 and R43701.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_013236.3.
            
            Summary: This gene encodes a protein that may function in neuron
            survival, neuron differentiation, and neuritogenesis. These roles
            may be carried out via activation of the mitogen-activated protein
            kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to
            800-4500 copies in an intronic region of this locus has been
            associated with spinocerebellar ataxia, type 10. Alternatively
            spliced transcript variants have been described.[provided by
            RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1803613.285016.1,
                                           SRR1803613.134517.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252934.10/ ENSP00000252934.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-42                DB035174.1         37-78
            43-1977             BC007508.2         1-1935
            1978-2936           AK095309.1         1782-2740
            2937-3075           DB548216.1         75-213
            3076-3294           R43701.1           11-229              c
FEATURES             Location/Qualifiers
     source          1..3294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.31"
     gene            1..3294
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="ataxin 10"
                     /db_xref="GeneID:25814"
                     /db_xref="HGNC:HGNC:10549"
                     /db_xref="MIM:611150"
     exon            1..346
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     CDS             231..1658
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="isoform 1 is encoded by transcript variant 1; brain
                     protein E46 homolog; spinocerebellar ataxia type 10
                     protein"
                     /codon_start=1
                     /product="ataxin-10 isoform 1"
                     /protein_id="NP_037368.1"
                     /db_xref="CCDS:CCDS14070.1"
                     /db_xref="GeneID:25814"
                     /db_xref="HGNC:HGNC:10549"
                     /db_xref="MIM:611150"
                     /translation="MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPR
                     TIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRNACIECSVNQNSI
                     RNLDTIGVAVDLILLFRELRVEQESLLTAFRCGLQFLGNIASRNEDSQSIVWVHAFPE
                     LFLSCLNHPDKKIVAYSSMILFTSLNHERMKELEENLNIAIDVIDAYQKHPESEWPFL
                     IITDLFLKSPELVQAMFPKLNNQERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIA
                     STFVDQCKTVLKLASEEPPDDEEALATIRLLDVLCEMTVNTELLGYLQVFPGLLERVI
                     DLLRVIHVAGKETTNIFSNCGCVRAEGDISNVANGFKSHLIRLIGNLCYKNKDNQDKV
                     NELDGIPLILDNCNISDSNPFLTQWVIYAIRNLTEDNSQNQDLIAKMEEQGLADASLL
                     KKVGFEVEKKGEKLILKSTRDTPKP"
     exon            347..538
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            539..621
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            622..718
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            719..877
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            878..958
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1124
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1233
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1234..1403
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1404..1467
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1468..1655
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     exon            1656..3294
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1935..1940
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="hexamer: AATAAA"
     polyA_site      1977
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="major polyA site"
     regulatory      2784..2789
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="hexamer: AATAAA"
     polyA_site      2815
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
     regulatory      2831..2836
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="hexamer: AATAAA"
     polyA_site      2858
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
     regulatory      2906..2911
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="hexamer: AGTAAA"
     polyA_site      2930
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
     regulatory      3268..3273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
                     /note="hexamer: AATAAA"
     polyA_site      3294
                     /gene="ATXN10"
                     /gene_synonym="ATX10; E46L; HUMEEP; SCA10"
ORIGIN      
        1 gccgtctcct cctcccgcct gaggcgagtc tgggctcagc ctagagctct ccggcggcgg
       61 cgcagcttca gggcagcgcg ggctgcagcg gcggcggcgg ttagggctgt gtagggcgag
      121 gcctccccct tcctcctcgc catcctactc ctccctcctc gtcatcctcc cccttcgtcc
      181 tcctcgcctt cctcctcctc gtcaggctcg acccagctgt gagcggcaag atggcggcgc
      241 ccaggccgcc gcctgccagg ctgtcgggcg tcatggtgcc ggcgcccatc caagacctgg
      301 aggccctgcg cgcgctcacg gcgctcttca aagagcagcg gaaccgagaa acagcaccca
      361 ggactatctt ccaaagagtt ctggatatcc taaagaaatc ttctcatgct gttgagcttg
      421 cctgcagaga tccatcccaa gtggaaaacc tggcttccag tctgcagtta ataacagaat
      481 gcttcaggtg tcttcgcaat gcttgcatag agtgttctgt gaaccagaat tcaatcagga
      541 acttggatac gattggtgtt gctgttgatt tgattcttct gtttcgtgaa ctgcgagtgg
      601 aacaggaatc tctgttgaca gcttttcgct gtggcctgca gtttttaggc aacattgcct
      661 cacggaatga agattcccag tctattgttt gggtgcatgc tttcccagaa ctgtttttgt
      721 cttgcttaaa tcatccggac aaaaaaattg ttgcctactc ttcaatgatt ttgtttacat
      781 cccttaatca tgaaagaatg aaagaactgg aggagaacct caatattgca attgatgtca
      841 tagatgctta ccaaaaacat cctgaatcag aatggccgtt cttgattatt acagacctct
      901 ttctgaaaag cccggaattg gtacaagcca tgtttcccaa actgaacaat caagaaagag
      961 ttacactgtt agaccttatg atagccaaga taacgagtga tgagccactc accaaggatg
     1021 acatccctgt gtttttgcgg catgctgagt tgattgcaag cacctttgtg gatcagtgca
     1081 agactgtgct caagctggcc tctgaggagc ctcctgatga tgaggaggca ctggctacaa
     1141 ttaggcttct cgacgtcctg tgcgaaatga ctgtgaatac tgagctgctc ggctatctgc
     1201 aggttttccc tggcttgctg gaaagagtga ttgatctttt gcgggtgatt catgtagctg
     1261 gaaaagaaac cacaaacatc ttcagtaatt gtggttgcgt gagagcagaa ggtgacatct
     1321 ccaatgtggc caatgggttt aagtctcatc tcattcgtct gattggaaat ctgtgttaca
     1381 agaataaaga taaccaagac aaggtaaatg agctggatgg tatcccgttg atcctggaca
     1441 actgcaacat cagtgacagt aacccctttc tgacccagtg ggtgatatat gccatccgaa
     1501 accttaccga agacaacagc caaaaccaag atttgattgc aaagatggag gaacaggggc
     1561 tggcagatgc atccctactt aaaaaagtgg gttttgaagt tgaaaagaaa ggcgaaaagc
     1621 tgatcctgaa atctactaga gacaccccta agccatgaat gaactacatc caaatacctg
     1681 aatttttgga atctgtttca tggatttttc atcttctacc gtatgtgaaa ttgcaagtgt
     1741 ttgaagattt ataagtacaa atttgggaac atacaaatct tttaggtagt agagtttaac
     1801 gtgtataagc taaaagtgaa agtaactgag tgttctcttg tttctttgca ttaatgtaac
     1861 tgtgtggttt gcctttgtcc ccctggatag aacgtgcatt taaagaatat attgtactta
     1921 ctgtgacagc agataataaa ccagtctctt ggagggcaca acccttattt gacaaaactt
     1981 ggatgttggc ttgactgtgt ttgtcccttc agatggcaag tcagcatcat tctttatatt
     2041 cctcttctca ttgggttttc tgaactctgg caggcggttg aagtagtttc tcactgtgat
     2101 taattctagc aatctctttt cacccctctg cctttccaaa acattgacaa gactcatttc
     2161 cagttaatta attcgagaac cctccctctt cattttgggt actgggctgt cttgtcactg
     2221 agccctatcc ctttggaatg tggcagggag tgaggttggt gagagaacat gtgggcactt
     2281 aactcttcat gttccagttc atcccagaag tagacatccc aggacccatt ctgtgtcaag
     2341 gtgaatgcct gtgtcctccc cagcttcatg cctctgtcat gggggaagga atagcttatg
     2401 ttctgctctg gtgcagtgcc gtagattaaa ggtacatttc tatcttcttt gatttaaaaa
     2461 gcaccagtct cataaaggtg ccactcagtt ttagccatgt cttcactgaa attgcaaaag
     2521 tacttttagg gagcaggagt ttatttgaca tctagttatc tgtctgtctg ttcatctatc
     2581 tatctgtctg ctgtatgaga ggtaggactg gattaaatga ccactgaact cactgaatcc
     2641 agatcattca tatcatcaac aaaagctcta gggggaggtc acgttgtgaa tgcttaaaac
     2701 atattatttt cttcaacaac catatcgcta aactaatata tccagagatt ttgcacaatt
     2761 cgtgttgaac cttccaaaac aaaaataaag acctgtccaa aagttttgac aaaaatactg
     2821 attgctccca aataaagtgc ttctaagctt tgtgtagaca tagtttaact gatttgtaaa
     2881 aatagcttaa gcatgttgag aatgaagtaa aagttttccc atgtgctgtc taatgtactc
     2941 tgtgtaactc tgaagacaca tcagcttcta ggattgcagc aatctatgaa taacattttt
     3001 tctctcattt atgactttcc atcagtaaag aagccattgc agaatttaaa attacacaaa
     3061 ggagtcattc tctcctggga cataaagagt taaagctctg tcctctaaat agaagcctgg
     3121 ccaaagggag aaaacagtgg gagtcccttt tcccttttaa caagtttgca atagacactt
     3181 ctttttttcc tgtctcaatg gatgtgtgca caccagtgga atcgcacaaa cttgtcggta
     3241 tgagctatat aataacaaac acaaataaat aaaagggagc cttgtgagaa taca
//
