GGRNA | NM_001195250.1

LOCUS       NM_001195250            1848 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens aprataxin (APTX), transcript variant 8, mRNA.
ACCESSION   NM_001195250
VERSION     NM_001195250.1  GI:305410832
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 1848)
  AUTHORS   Tumbale,P., Appel,C.D., Kraehenbuehl,R., Robertson,P.D.,
            Williams,J.S., Krahn,J., Ahel,I. and Williams,R.S.
  TITLE     Structure of an aprataxin-DNA complex with insights into AOA1
            neurodegenerative disease
  JOURNAL   Nat. Struct. Mol. Biol. 18 (11), 1189-1195 (2011)
   PUBMED   21984210
  REMARK    GeneRIF: Data suggest that mutations affecting protein folding, the
            active site pocket and the pivot motif underlie aprataxin
            dysfunction in the neurodegenerative disorder ataxia with
            oculomotor apraxia 1 (AOA1).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1848)
  AUTHORS   Sykora,P., Croteau,D.L., Bohr,V.A. and Wilson,D.M. III.
  TITLE     Aprataxin localizes to mitochondria and preserves mitochondrial
            function
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 108 (18), 7437-7442 (2011)
   PUBMED   21502511
  REMARK    GeneRIF: Aprataxin localizes to mitochondria and preserves
            mitochondrial function.
REFERENCE   3  (bases 1 to 1848)
  AUTHORS   Yokoseki,A., Ishihara,T., Koyama,A., Shiga,A., Yamada,M.,
            Suzuki,C., Sekijima,Y., Maruta,K., Tsuchiya,M., Date,H., Sato,T.,
            Tada,M., Ikeuchi,T., Tsuji,S., Nishizawa,M. and Onodera,O.
  TITLE     Genotype-phenotype correlations in early onset ataxia with ocular
            motor apraxia and hypoalbuminaemia
  JOURNAL   Brain 134 (PT 5), 1387-1399 (2011)
   PUBMED   21486904
  REMARK    GeneRIF: The patients with early onset ataxia with ocular motor
            apraxia and hypoalbuminaemia homozygous for the c.689_690insT
            mutation(APTX) show a more severe phenotype than those with a
            p.Pro206Leu or p.Val263Gly mutation.
REFERENCE   4  (bases 1 to 1848)
  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   5  (bases 1 to 1848)
  AUTHORS   Tranchant,C., Fleury,M., Moreira,M.C., Koenig,M. and Warter,J.M.
  TITLE     Phenotypic variability of aprataxin gene mutations
  JOURNAL   Neurology 60 (5), 868-870 (2003)
   PUBMED   12629250
  REMARK    GeneRIF: The clinical and genetic features of three non-Portuguese
            and non-Japanese patients with aprataxin gene mutations are
            reported.
REFERENCE   6  (bases 1 to 1848)
  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   7  (bases 1 to 1848)
  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   8  (bases 1 to 1848)
  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   9  (bases 1 to 1848)
  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   10 (bases 1 to 1848)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY208830.1, AL353717.13 and
            AA494365.1.
            
            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 (8) has multiple differences in
            the coding region but maintains the reading frame, compared to
            variant 1. This variant encodes isoform f, which is shorter than
            isoform a.
            
            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 :: AY208830.1, AY208832.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025095 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1068              AY208830.1         1-1068
            1069-1818           AL353717.13        91081-91830         c
            1819-1848           AA494365.1         4-33                c
FEATURES             Location/Qualifiers
     source          1..1848
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..1848
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="aprataxin"
                     /db_xref="GeneID:54840"
                     /db_xref="HGNC:15984"
                     /db_xref="MIM:606350"
     exon            1..75
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     CDS             38..946
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="isoform f is encoded by transcript variant 8;
                     forkhead-associated domain histidine triad-like protein"
                     /codon_start=1
                     /product="aprataxin isoform f"
                     /protein_id="NP_001182179.1"
                     /db_xref="GI:305410833"
                     /db_xref="CCDS:CCDS56568.1"
                     /db_xref="GeneID:54840"
                     /db_xref="HGNC:15984"
                     /db_xref="MIM:606350"
                     /translation="

MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ

"
     misc_feature    407..712
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="aprataxin related: Aprataxin, a HINT family
                     hydrolase is mutated in ataxia oculomotor apraxia
                     syndrome. All the members of this subgroup have the
                     conserved HxHxHxx (where x is a hydrophobic residue)
                     signature motif. Members of this subgroup are...; Region:
                     aprataxin_related; cd01278"
                     /db_xref="CDD:29591"
     misc_feature    order(689..691,695..697,701..709)
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="HIT family signature motif; other site"
                     /db_xref="CDD:29591"
     misc_feature    695..697
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:29591"
     exon            76..212
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     exon            213..400
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     variation       348
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:34778324"
     variation       374
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34634937"
     exon            401..460
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     exon            461..687
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     exon            688..791
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     STS             785..943
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="RH46890"
                     /db_xref="UniSTS:39445"
     STS             785..942
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="AB056422"
                     /db_xref="UniSTS:480150"
     exon            792..1838
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     STS             1561..1709
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="A005Z44"
                     /db_xref="UniSTS:62783"
     STS             1561..1709
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="G20636"
                     /db_xref="UniSTS:62782"
     polyA_signal    1810..1815
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
     polyA_site      1838
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
ORIGIN

gacgtcatcccgcagcgccggaagcggtgaggcacagatgagtaacgtgaatttgtccgtctccgacttctggagagtgatgatgcgggtgtgctggttggtgagacaggacagccggcaccagcgaatcagacttccacatttggaagcagttgtgattgggcgtggcccagagaccaagatcactgataagaaatgttctcgacagcaagagtttgaggaagaggcaaagaaccctggcctggaaacacacaggaagagaaagagatcaggcaacagtgattctatagaaagggatgctgctcaggaagctgaggctgggacagggctggaacctgggagcaactctggccaatgctctgtgcccctaaagaagggaaaagatgcacctatcaaaaaggaatccctgggccactggagtcaaggcttgaagatttctatgcaggaccccaaaatgcaggtttacaaagatgagcaggtggtggtgataaaggataaatacccaaaggcccgttaccattggctggtcttaccgtggacctccatttccagtctgaaggctgtggccagggaacaccttgaactccttaagcatatgcacactgtgggggaaaaggtgattgtagattttgctgggtccagcaaactccgcttccgattgggctaccacgccattccgagtatgagccatgtacatcttcatgtgatcagccaggattttgattctccttgccttaaaaacaaaaaacattggaattctttcaatacagaatacttcctagaatcacaagctgtgatcgagatggtacaagaggctggtagagtaactgtccgagatgggatgcctgagctcttgaagctgccccttcgttgtcatgagtgccagcagctgctgccttccattcctcagctgaaagaacatctcaggaagcactggacacagtgattctgcagagcctgagctgctgctgtggtgtggcccactggagcaaactgctggcacctattctgggttgcttgtgaacttctactcatttcctaaattaaaacatgcagctttttcacaaatttattctattattgagtggccacaatgtagagtggctcaaagtacttcaggattaggaatttgggtttgtcatagatgtattctctggtgagggtggctgggatatacctgacccaccatcttcagaaggacccatgtcaggtctgaccattgggagcaaagccatgttcacactgacctaatgcagagtatggaagcattgggctggttatacatttctgtttcttagatttatcctccgcctctgtaggcatggacaacctttaatcagagcatctagagtggcctcttgtttatcctgaagatactgatgggtcttgttttctgttagtctgttttgtaatattcttttcccttccttcatggggaggcttagtttgtccagtccttccatgcccttctatcccagattacctaaatgttcccttctcaggaattctgtctcatcagttcttcacagtgagaaaagaggctagatgatggtgtggggggttggagttttcttctaataccgagggttcctggctgtgaggaaacagccacatgttcgtcatgattgagctgtgaagtcttcttggacctgttgtctgaaaataaagttaatttgtttgaggcatctctcttaagtaggtggaaactattgaagttcagctaacaatcacagcataggttctgatgcatggaaaggtggttggtgaatgaaaaagttgcgtagagccactactttctttttccctgagaataaatttggataaaacagttgtattcaaaaaaaaaaa

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