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2024-04-26 04:23:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001195254 1870 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens aprataxin (APTX), transcript variant 10, mRNA.
ACCESSION NM_001195254
VERSION NM_001195254.1 GI:307746920
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 1870)
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 1870)
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 1870)
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 1870)
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 1870)
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 1870)
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 1870)
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 1870)
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 1870)
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 1870)
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 DB042208.1, AY208833.1,
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 (10) differs in the 5' UTR and has
multiple differences in the coding region but maintains the reading
frame, compared to variant 1. This variant encodes isoform h, 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 :: AY208833.1 [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
1-47 DB042208.1 1-47
48-1159 AY208833.1 1-1112
1160-1545 AL353717.13 91376-91761 c
1546-1870 AA494365.1 4-328 c
FEATURES Location/Qualifiers
source 1..1870
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p13.3"
gene 1..1870
/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..97
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
misc_feature 48..50
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="upstream in-frame stop codon"
exon 98..234
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
CDS 102..968
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="isoform h is encoded by transcript variant 10;
forkhead-associated domain histidine triad-like protein"
/codon_start=1
/product="aprataxin isoform h"
/protein_id="NP_001182183.1"
/db_xref="GI:307746921"
/db_xref="GeneID:54840"
/db_xref="HGNC:15984"
/db_xref="MIM:606350"
/translation="
MMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQEFEEEAKNPGLETHRKRKRSGNSDSIERDAAQEAEAGTGLEPGSNSGQCSVPLKKGKDAPIKKESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ
"
misc_feature 429..734
/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(711..713,717..719,723..731)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="HIT family signature motif; other site"
/db_xref="CDD:29591"
misc_feature 717..719
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="catalytic residue [active]"
/db_xref="CDD:29591"
exon 235..422
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation 370
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="c"
/db_xref="dbSNP:34778324"
variation 396
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:34634937"
exon 423..482
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
exon 483..709
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
exon 710..813
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
STS 807..965
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="RH46890"
/db_xref="UniSTS:39445"
STS 807..964
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="AB056422"
/db_xref="UniSTS:480150"
exon 814..1860
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
STS 1583..1731
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="A005Z44"
/db_xref="UniSTS:62783"
STS 1583..1731
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="G20636"
/db_xref="UniSTS:62782"
polyA_signal 1832..1837
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
polyA_site 1860
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
ORIGIN
aggcacagatgagtaacgtgaatttgtccgtctccgacttctggaggtaaggcggtcgtcagcctatctcttctgctggctgggctcaatgccgcggagtgatgatgcgggtgtgctggttggtgagacaggacagccggcaccagcgaatcagacttccacatttggaagcagttgtgattgggcgtggcccagagaccaagatcactgataagaaatgttctcgacagcaagagtttgaggaagaggcaaagaaccctggcctggaaacacacaggaagagaaagagatcaggcaacagtgattctatagaaagggatgctgctcaggaagctgaggctgggacagggctggaacctgggagcaactctggccaatgctctgtgcccctaaagaagggaaaagatgcacctatcaaaaaggaatccctgggccactggagtcaaggcttgaagatttctatgcaggaccccaaaatgcaggtttacaaagatgagcaggtggtggtgataaaggataaatacccaaaggcccgttaccattggctggtcttaccgtggacctccatttccagtctgaaggctgtggccagggaacaccttgaactccttaagcatatgcacactgtgggggaaaaggtgattgtagattttgctgggtccagcaaactccgcttccgattgggctaccacgccattccgagtatgagccatgtacatcttcatgtgatcagccaggattttgattctccttgccttaaaaacaaaaaacattggaattctttcaatacagaatacttcctagaatcacaagctgtgatcgagatggtacaagaggctggtagagtaactgtccgagatgggatgcctgagctcttgaagctgccccttcgttgtcatgagtgccagcagctgctgccttccattcctcagctgaaagaacatctcaggaagcactggacacagtgattctgcagagcctgagctgctgctgtggtgtggcccactggagcaaactgctggcacctattctgggttgcttgtgaacttctactcatttcctaaattaaaacatgcagctttttcacaaatttattctattattgagtggccacaatgtagagtggctcaaagtacttcaggattaggaatttgggtttgtcatagatgtattctctggtgagggtggctgggatatacctgacccaccatcttcagaaggacccatgtcaggtctgaccattgggagcaaagccatgttcacactgacctaatgcagagtatggaagcattgggctggttatacatttctgtttcttagatttatcctccgcctctgtaggcatggacaacctttaatcagagcatctagagtggcctcttgtttatcctgaagatactgatgggtcttgttttctgttagtctgttttgtaatattcttttcccttccttcatggggaggcttagtttgtccagtccttccatgcccttctatcccagattacctaaatgttcccttctcaggaattctgtctcatcagttcttcacagtgagaaaagaggctagatgatggtgtggggggttggagttttcttctaataccgagggttcctggctgtgaggaaacagccacatgttcgtcatgattgagctgtgaagtcttcttggacctgttgtctgaaaataaagttaatttgtttgaggcatctctcttaagtaggtggaaactattgaagttcagctaacaatcacagcataggttctgatgcatggaaaggtggttggtgaatgaaaaagttgcgtagagccactactttctttttccctgagaataaatttggataaaacagttgtattcaaaaaaaaaaa
//
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
by
@meso_cacase at
DBCLS
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