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
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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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