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2024-03-30 00:58:36, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_175073               2116 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens aprataxin (APTX), transcript variant 1, mRNA.
ACCESSION   NM_175073
VERSION     NM_175073.2  GI:307746901
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 2116)
  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 2116)
  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 2116)
  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 2116)
  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 2116)
  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 2116)
  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 2116)
  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 2116)
  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 2116)
  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 2116)
  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, AY208837.1,
            AL353717.13 and AA494365.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Sep 28, 2010 this sequence version replaced gi:28329435.
            
            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 (1) encodes isoform a. Variants 1
            and 7 encode the same 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 :: BC068107.1, AY208837.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025082 [ECO:0000350]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AY208830.1         1-34
            35-1336             AY208837.1         1-1302
            1337-2086           AL353717.13        91081-91830         c
            2087-2116           AA494365.1         4-33                c
FEATURES             Location/Qualifiers
     source          1..2116
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.3"
     gene            1..2116
                     /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"
     exon            76..181
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     STS             93..1547
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /db_xref="UniSTS:488157"
     misc_feature    123..125
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="upstream in-frame stop codon"
     exon            182..318
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     CDS             186..1214
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="isoform a is encoded by transcript variant 1;
                     forkhead-associated domain histidine triad-like protein"
                     /codon_start=1
                     /product="aprataxin isoform a"
                     /protein_id="NP_778243.1"
                     /db_xref="GI:28329436"
                     /db_xref="CCDS:CCDS47956.1"
                     /db_xref="GeneID:54840"
                     /db_xref="HGNC:15984"
                     /db_xref="MIM:606350"
                     /translation="
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMVNELYPYIVEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ
"
     misc_feature    201..482
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="Forkhead associated domain (FHA); found in
                     eukaryotic and prokaryotic proteins. Putative nuclear
                     signalling domain. FHA domains may bind phosphothreonine,
                     phosphoserine and sometimes phosphotyrosine. In
                     eukaryotes, many FHA domain-containing proteins...;
                     Region: FHA; cd00060"
                     /db_xref="CDD:28942"
     misc_feature    order(270..272,300..302,306..311,372..380)
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="phosphopeptide binding site; other site"
                     /db_xref="CDD:28942"
     misc_feature    675..980
                     /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(957..959,963..965,969..977)
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="HIT family signature motif; other site"
                     /db_xref="CDD:29591"
     misc_feature    963..965
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /note="catalytic residue [active]"
                     /db_xref="CDD:29591"
     exon            319..365
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     exon            366..668
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     variation       616
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:34778324"
     variation       642
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34634937"
     exon            669..728
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     exon            729..955
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     exon            956..1059
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     STS             1053..1211
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="RH46890"
                     /db_xref="UniSTS:39445"
     STS             1053..1210
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="AB056422"
                     /db_xref="UniSTS:480150"
     exon            1060..2106
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /inference="alignment:Splign:1.39.8"
     STS             1829..1977
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="A005Z44"
                     /db_xref="UniSTS:62783"
     STS             1829..1977
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
                     /standard_name="G20636"
                     /db_xref="UniSTS:62782"
     polyA_signal    2078..2083
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
     polyA_site      2106
                     /gene="APTX"
                     /gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
ORIGIN      
gacgtcatcccgcagcgccggaagcggtgaggcacagatgagtaacgtgaatttgtccgtctccgacttctggagatttattttttttagatgaggtgttgctgtgttgcccaagctggacttgaacccctaggctcaagcaatccttccacctcagtctcccaagtagcagggactacagagtgatgatgcgggtgtgctggttggtgagacaggacagccggcaccagcgaatcagacttccacatttggaagcagttgtgattgggcgtggcccagagaccaagatcactgataagaaatgttctcgacagcaagtacagttgaaagcagagtgtaacaagggatatgtcaaggtaaagcaggtaggagtcaatcccaccagcattgactcagtcgtaattgggaaggaccaagaggtgaagctgcagcctggccaggttctccacatggtgaatgaactttatccatatattgtagagtttgaggaagaggcaaagaaccctggcctggaaacacacaggaagagaaagagatcaggcaacagtgattctatagaaagggatgctgctcaggaagctgaggctgggacagggctggaacctgggagcaactctggccaatgctctgtgcccctaaagaagggaaaagatgcacctatcaaaaaggaatccctgggccactggagtcaaggcttgaagatttctatgcaggaccccaaaatgcaggtttacaaagatgagcaggtggtggtgataaaggataaatacccaaaggcccgttaccattggctggtcttaccgtggacctccatttccagtctgaaggctgtggccagggaacaccttgaactccttaagcatatgcacactgtgggggaaaaggtgattgtagattttgctgggtccagcaaactccgcttccgattgggctaccacgccattccgagtatgagccatgtacatcttcatgtgatcagccaggattttgattctccttgccttaaaaacaaaaaacattggaattctttcaatacagaatacttcctagaatcacaagctgtgatcgagatggtacaagaggctggtagagtaactgtccgagatgggatgcctgagctcttgaagctgccccttcgttgtcatgagtgccagcagctgctgccttccattcctcagctgaaagaacatctcaggaagcactggacacagtgattctgcagagcctgagctgctgctgtggtgtggcccactggagcaaactgctggcacctattctgggttgcttgtgaacttctactcatttcctaaattaaaacatgcagctttttcacaaatttattctattattgagtggccacaatgtagagtggctcaaagtacttcaggattaggaatttgggtttgtcatagatgtattctctggtgagggtggctgggatatacctgacccaccatcttcagaaggacccatgtcaggtctgaccattgggagcaaagccatgttcacactgacctaatgcagagtatggaagcattgggctggttatacatttctgtttcttagatttatcctccgcctctgtaggcatggacaacctttaatcagagcatctagagtggcctcttgtttatcctgaagatactgatgggtcttgttttctgttagtctgttttgtaatattcttttcccttccttcatggggaggcttagtttgtccagtccttccatgcccttctatcccagattacctaaatgttcccttctcaggaattctgtctcatcagttcttcacagtgagaaaagaggctagatgatggtgtggggggttggagttttcttctaataccgagggttcctggctgtgaggaaacagccacatgttcgtcatgattgagctgtgaagtcttcttggacctgttgtctgaaaataaagttaatttgtttgaggcatctctcttaagtaggtggaaactattgaagttcagctaacaatcacagcataggttctgatgcatggaaaggtggttggtgaatgaaaaagttgcgtagagccactactttctttttccctgagaataaatttggataaaacagttgtattcaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:54840 -> Molecular function: GO:0003682 [chromatin binding] evidence: IDA
            GeneID:54840 -> Molecular function: GO:0003684 [damaged DNA binding] evidence: IDA
            GeneID:54840 -> Molecular function: GO:0003690 [double-stranded DNA binding] evidence: IDA
            GeneID:54840 -> Molecular function: GO:0003725 [double-stranded RNA binding] evidence: IDA
            GeneID:54840 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:54840 -> Molecular function: GO:0008967 [phosphoglycolate phosphatase activity] evidence: IDA
            GeneID:54840 -> Molecular function: GO:0033699 [DNA 5'-adenosine monophosphate hydrolase activity] evidence: IDA
            GeneID:54840 -> Molecular function: GO:0046403 [polynucleotide 3'-phosphatase activity] evidence: IDA
            GeneID:54840 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
            GeneID:54840 -> Molecular function: GO:0047485 [protein N-terminus binding] evidence: IPI
            GeneID:54840 -> Molecular function: GO:0051219 [phosphoprotein binding] evidence: IPI
            GeneID:54840 -> Biological process: GO:0000012 [single strand break repair] evidence: IDA
            GeneID:54840 -> Biological process: GO:0006266 [DNA ligation] evidence: IEA
            GeneID:54840 -> Biological process: GO:0006302 [double-strand break repair] evidence: IDA
            GeneID:54840 -> Biological process: GO:0006974 [response to DNA damage stimulus] evidence: IMP
            GeneID:54840 -> Biological process: GO:0008219 [cell death] evidence: IEA
            GeneID:54840 -> Biological process: GO:0031647 [regulation of protein stability] evidence: IMP
            GeneID:54840 -> Biological process: GO:0042542 [response to hydrogen peroxide] evidence: IDA
            GeneID:54840 -> Cellular component: GO:0000785 [chromatin] evidence: IDA
            GeneID:54840 -> Cellular component: GO:0000790 [nuclear chromatin] evidence: IDA
            GeneID:54840 -> Cellular component: GO:0005654 [nucleoplasm] evidence: IDA
            GeneID:54840 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
            GeneID:54840 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA

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