LOCUS       NM_001195248            1977 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens aprataxin (APTX), transcript variant 6, mRNA.
ACCESSION   NM_001195248
VERSION     NM_001195248.2
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 1977)
  AUTHORS   Imamura,R., Saito,M., Shimada,M., Kobayashi,J., Ishiai,M. and
            Matsumoto,Y.
  TITLE     APTX acts in DNA double-strand break repair in a manner distinct
            from XRCC4
  JOURNAL   J Radiat Res 64 (3), 485-495 (2023)
   PUBMED   36940705
  REMARK    GeneRIF: APTX acts in DNA double-strand break repair in a manner
            distinct from XRCC4.
REFERENCE   2  (bases 1 to 1977)
  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 1977)
  AUTHORS   Hirano,M., Nishiwaki,T., Kariya,S., Furiya,Y., Kawahara,M. and
            Ueno,S.
  TITLE     Novel splice variants increase molecular diversity of aprataxin,
            the gene responsible for early-onset ataxia with ocular motor
            apraxia and hypoalbuminemia
  JOURNAL   Neurosci Lett 366 (2), 120-125 (2004)
   PUBMED   15276230
REFERENCE   4  (bases 1 to 1977)
  AUTHORS   Shimazaki,H., Takiyama,Y., Sakoe,K., Ikeguchi,K., Niijima,K.,
            Kaneko,J., Namekawa,M., Ogawa,T., Date,H., Tsuji,S., Nakano,I. and
            Nishizawa,M.
  TITLE     Early-onset ataxia with ocular motor apraxia and hypoalbuminemia:
            the aprataxin gene mutations
  JOURNAL   Neurology 59 (4), 590-595 (2002)
   PUBMED   12196655
REFERENCE   5  (bases 1 to 1977)
  AUTHORS   Brenner,C.
  TITLE     Hint, Fhit, and GalT: function, structure, evolution, and mechanism
            of three branches of the histidine triad superfamily of nucleotide
            hydrolases and transferases
  JOURNAL   Biochemistry 41 (29), 9003-9014 (2002)
   PUBMED   12119013
REFERENCE   6  (bases 1 to 1977)
  AUTHORS   Moreira,M.C., Barbot,C., Tachi,N., Kozuka,N., Uchida,E., Gibson,T.,
            Mendonca,P., Costa,M., Barros,J., Yanagisawa,T., Watanabe,M.,
            Ikeda,Y., Aoki,M., Nagata,T., Coutinho,P., Sequeiros,J. and
            Koenig,M.
  TITLE     The gene mutated in ataxia-ocular apraxia 1 encodes the new
            HIT/Zn-finger protein aprataxin
  JOURNAL   Nat Genet 29 (2), 189-193 (2001)
   PUBMED   11586300
REFERENCE   7  (bases 1 to 1977)
  AUTHORS   Date,H., Onodera,O., Tanaka,H., Iwabuchi,K., Uekawa,K.,
            Igarashi,S., Koike,R., Hiroi,T., Yuasa,T., Awaya,Y., Sakai,T.,
            Takahashi,T., Nagatomo,H., Sekijima,Y., Kawachi,I., Takiyama,Y.,
            Nishizawa,M., Fukuhara,N., Saito,K., Sugano,S. and Tsuji,S.
  TITLE     Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is
            caused by mutations in a new HIT superfamily gene
  JOURNAL   Nat Genet 29 (2), 184-188 (2001)
   PUBMED   11586299
REFERENCE   8  (bases 1 to 1977)
  AUTHORS   Moreira,M.C., Barbot,C., Tachi,N., Kozuka,N., Mendonca,P.,
            Barros,J., Coutinho,P., Sequeiros,J. and Koenig,M.
  TITLE     Homozygosity mapping of Portuguese and Japanese forms of
            ataxia-oculomotor apraxia to 9p13, and evidence for genetic
            heterogeneity
  JOURNAL   Am J Hum Genet 68 (2), 501-508 (2001)
   PUBMED   11170899
REFERENCE   9  (bases 1 to 1977)
  AUTHORS   Coutinho,P., Barbot,C. and Coutinho,P.
  TITLE     Ataxia with Oculomotor Apraxia Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301629
REFERENCE   10 (bases 1 to 1977)
  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 AL162590.15 and AL353717.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 23, 2019 this sequence version replaced NM_001195248.1.
            
            Summary: This gene encodes a member of the histidine triad (HIT)
            superfamily. The encoded protein may play a role in single-stranded
            DNA repair through its nucleotide-binding activity and its
            diadenosine polyphosphate hydrolase activity. Mutations in this
            gene have been associated with ataxia-ocular apraxia. Alternatively
            spliced transcript variants have been identified for this
            gene.[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (6) differs in the 5' UTR compared
            to variant 1. Variants 1, 6, 7, 16, 17, 18, and 19 encode the same
            isoform (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: SRR1803616.149901.1,
                                           SRR1803614.10115.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            MANE Ensembl match               :: ENST00000379817.7/
                                                ENSP00000369145.2
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression,
                                                longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                AL162590.15        1489-1550           c
            63-199              AL353717.13        108214-108350       c
            200-246             AL353717.13        106538-106584       c
            247-549             AL353717.13        105999-106301       c
            550-609             AL353717.13        104426-104485       c
            610-836             AL353717.13        103086-103312       c
            837-940             AL353717.13        92913-93016         c
            941-1977            AL353717.13        91071-92107         c
FEATURES             Location/Qualifiers
     source          1..1977
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.1"
     gene            1..1977
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="aprataxin"
                     /db_xref="GeneID:54840"
                     /db_xref="HGNC:HGNC:15984"
                     /db_xref="MIM:606350"
     exon            1..62
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     exon            63..199
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1095
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /EC_number="3.6.1.72"
                     /EC_number="3.6.1.71"
                     /note="isoform a is encoded by transcript variant 6;
                     forkhead-associated domain histidine triad-like protein"
                     /codon_start=1
                     /product="aprataxin isoform a"
                     /protein_id="NP_001182177.2"
                     /db_xref="CCDS:CCDS47956.1"
                     /db_xref="GeneID:54840"
                     /db_xref="HGNC:HGNC:15984"
                     /db_xref="MIM:606350"
                     /translation="MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQ
                     VQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEE
                     EAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIK
                     KESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAR
                     EHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNK
                     KHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKE
                     HLRKHWTQ"
     exon            200..246
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     exon            247..549
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     exon            550..609
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     exon            610..836
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     exon            837..940
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     exon            941..1977
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1192..1197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="hexamer: ATTAAA"
     polyA_site      1217
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="major polyA site"
     regulatory      1811..1816
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="hexamer: AATAAA"
     polyA_site      1834
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
     regulatory      1959..1964
                     /regulatory_class="polyA_signal_sequence"
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="hexamer: AATAAA"
     polyA_site      1977
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="major polyA site"
ORIGIN      
        1 agcgccggaa gcggtgaggc acagatgagt aacgtgaatt tgtccgtctc cgacttctgg
       61 agagtgatga tgcgggtgtg ctggttggtg agacaggaca gccggcacca gcgaatcaga
      121 cttccacatt tggaagcagt tgtgattggg cgtggcccag agaccaagat cactgataag
      181 aaatgttctc gacagcaagt acagttgaaa gcagagtgta acaagggata tgtcaaggta
      241 aagcaggtag gagtcaatcc caccagcatt gactcagtcg taattgggaa ggaccaagag
      301 gtgaagctgc agcctggcca ggttctccac atggtgaatg aactttatcc atatattgta
      361 gagtttgagg aagaggcaaa gaaccctggc ctggaaacac acaggaagag aaagagatca
      421 ggcaacagtg attctataga aagggatgct gctcaggaag ctgaggctgg gacagggctg
      481 gaacctggga gcaactctgg ccaatgctct gtgcccctaa agaagggaaa agatgcacct
      541 atcaaaaagg aatccctggg ccactggagt caaggcttga agatttctat gcaggacccc
      601 aaaatgcagg tttacaaaga tgagcaggtg gtggtgataa aggataaata cccaaaggcc
      661 cgttaccatt ggctggtctt accgtggacc tccatttcca gtctgaaggc tgtggccagg
      721 gaacaccttg aactccttaa gcatatgcac actgtggggg aaaaggtgat tgtagatttt
      781 gctgggtcca gcaaactccg cttccgattg ggctaccacg ccattccgag tatgagccat
      841 gtacatcttc atgtgatcag ccaggatttt gattctcctt gccttaaaaa caaaaaacat
      901 tggaattctt tcaatacaga atacttccta gaatcacaag ctgtgatcga gatggtacaa
      961 gaggctggta gagtaactgt ccgagatggg atgcctgagc tcttgaagct gccccttcgt
     1021 tgtcatgagt gccagcagct gctgccttcc attcctcagc tgaaagaaca tctcaggaag
     1081 cactggacac agtgattctg cagagcctga gctgctgctg tggtgtggcc cactggagca
     1141 aactgctggc acctattctg ggttgcttgt gaacttctac tcatttccta aattaaaaca
     1201 tgcagctttt tcacaaattt attctattat tgagtggcca caatgtagag tggctcaaag
     1261 tacttcagga ttaggaattt gggtttgtca tagatgtatt ctctggtgag ggtggctggg
     1321 atatacctga cccaccatct tcagaaggac ccatgtcagg tctgaccatt gggagcaaag
     1381 ccatgttcac actgacctaa tgcagagtat ggaagcattg ggctggttat acatttctgt
     1441 ttcttagatt tatcctccgc ctctgtaggc atggacaacc tttaatcaga gcatctagag
     1501 tggcctcttg tttatcctga agatactgat gggtcttgtt ttctgttagt ctgttttgta
     1561 atattctttt cccttccttc atggggaggc ttagtttgtc cagtccttcc atgcccttct
     1621 atcccagatt acctaaatgt tcccttctca ggaattctgt ctcatcagtt cttcacagtg
     1681 agaaaagagg ctagatgatg gtgtgggggg ttggagtttt cttctaatac cgagggttcc
     1741 tggctgtgag gaaacagcca catgttcgtc atgattgagc tgtgaagtct tcttggacct
     1801 gttgtctgaa aataaagtta atttgtttga ggcatctctc ttaagtaggt ggaaactatt
     1861 gaagttcagc taacaatcac agcataggtt ctgatgcatg gaaaggtggt tggtgaatga
     1921 aaaagttgcg tagagccact actttctttt tccctgagaa taaatttgga taaaaca
//
