Home |
Help |
Advanced search
2024-04-20 21:45:31, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001195252 1794 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens aprataxin (APTX), transcript variant 11, mRNA.
ACCESSION NM_001195252
VERSION NM_001195252.1 GI:305410836
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 1794)
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 1794)
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 1794)
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 1794)
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 1794)
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 1794)
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 1794)
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 1794)
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 1794)
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 1794)
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, AY208831.1 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 (11) has multiple differences
compared to variant 1. These differences result in translation
initiation at an upstream ATG and an isoform (i) with a longer
N-terminus but an overall shorter length compared to 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 :: AY208831.1 [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
35-1774 AY208831.1 1-1740
1775-1794 AA494365.1 4-23 c
FEATURES Location/Qualifiers
source 1..1794
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9p13.3"
gene 1..1794
/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"
variation complement(11)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="c"
/db_xref="dbSNP:370856819"
variation complement(12)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:377397401"
variation complement(25)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:370114338"
variation complement(27)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:375722171"
variation complement(35)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:371868908"
CDS 38..892
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="isoform i is encoded by transcript variant 11;
forkhead-associated domain histidine triad-like protein"
/codon_start=1
/product="aprataxin isoform i"
/protein_id="NP_001182181.1"
/db_xref="GI:305410837"
/db_xref="GeneID:54840"
/db_xref="HGNC:15984"
/db_xref="MIM:606350"
/translation="
MSNVNLSVSDFWRVMMRVCWLVRQDSRHQRIRLPHLEAVVIGRGPETKITDKKCSRQQVQLKAECNKGYVKVKQVGVNPTSIDSVVIGKDQEVKLQPGQVLHMESLGHWSQGLKISMQDPKMQVYKDEQVVVIKDKYPKARYHWLVLPWTSISSLKAVAREHLELLKHMHTVGEKVIVDFAGSSKLRFRLGYHAIPSMSHVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIEMVQEAGRVTVRDGMPELLKLPLRCHECQQLLPSIPQLKEHLRKHWTQ
"
misc_feature 95..346
/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; cl00062"
/db_xref="CDD:206810"
misc_feature order(164..166,194..196,200..205,266..274)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="phosphopeptide binding site; other site"
/db_xref="CDD:28942"
misc_feature 353..658
/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(635..637,641..643,647..655)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="HIT family signature motif; other site"
/db_xref="CDD:29591"
misc_feature 641..643
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/note="catalytic residue [active]"
/db_xref="CDD:29591"
variation complement(58)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:367600354"
variation complement(71)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:376931950"
exon 76..212
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation complement(80)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:375845479"
variation complement(94)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:199547517"
variation complement(96)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:371355680"
variation complement(97)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:144076460"
variation complement(117)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:373640152"
variation complement(152)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:139213149"
variation complement(159)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:117041645"
variation complement(167)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:11542905"
variation complement(181)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:181835582"
variation complement(187)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:149686710"
variation complement(198)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:369514012"
variation complement(203)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:201912053"
variation complement(210)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:139479900"
exon 213..259
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation complement(227)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:369431727"
exon 260..346
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation complement(262)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:150506419"
variation complement(270)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:142032370"
variation complement(289)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:138511333"
variation complement(293)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:367998288"
variation complement(301)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:202181189"
exon 347..406
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation complement(376)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:140888559"
exon 407..633
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation complement(448)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:146506430"
variation complement(459)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:150886026"
variation complement(463)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:371627062"
variation 465
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:121908133"
variation 480
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:121908131"
variation complement(481)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:140355580"
variation 531
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:267606665"
variation complement(553)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:180809113"
variation complement(570)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:371488744"
variation complement(595)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:146721073"
variation complement(603)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:142133683"
variation complement(605)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="t"
/db_xref="dbSNP:141195622"
variation complement(624)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:368000346"
exon 634..737
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation 651
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:121908132"
variation complement(677)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:144893610"
variation complement(697)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:371095360"
variation complement(699)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace=""
/replace="g"
/db_xref="dbSNP:35197050"
variation 700
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:104894103"
variation complement(728)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:373733857"
STS 731..889
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="RH46890"
/db_xref="UniSTS:39445"
STS 731..888
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="AB056422"
/db_xref="UniSTS:480150"
exon 738..1784
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/inference="alignment:Splign:1.39.8"
variation complement(746)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:149867156"
variation complement(763)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="t"
/db_xref="dbSNP:376003639"
variation complement(792)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:12001066"
variation complement(815)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:373961930"
variation complement(816)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:371292546"
variation complement(821)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:376734304"
variation complement(823)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="t"
/db_xref="dbSNP:374053126"
variation complement(834)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="t"
/db_xref="dbSNP:141493373"
variation complement(879)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:200782765"
variation complement(906)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:369930661"
variation complement(941)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:377690852"
variation complement(1033)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:148292963"
variation complement(1079)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:113638548"
variation complement(1329)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:143023388"
variation complement(1346)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:138490250"
variation complement(1382)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="g"
/replace="t"
/db_xref="dbSNP:191436643"
variation complement(1477)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="c"
/replace="g"
/db_xref="dbSNP:367715736"
variation complement(1498)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:111430445"
STS 1507..1655
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="A005Z44"
/db_xref="UniSTS:62783"
STS 1507..1655
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/standard_name="G20636"
/db_xref="UniSTS:62782"
variation complement(1648)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:115295647"
variation complement(1698)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:113556331"
variation complement(1732..1733)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace=""
/replace="g"
/db_xref="dbSNP:143074773"
variation complement(1743..1744)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace=""
/replace="ct"
/db_xref="dbSNP:377365362"
polyA_signal 1756..1761
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
variation complement(1761)
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
/replace="a"
/replace="g"
/db_xref="dbSNP:375901956"
polyA_site 1784
/gene="APTX"
/gene_synonym="AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT"
ORIGIN
gacgtcatcccgcagcgccggaagcggtgaggcacagatgagtaacgtgaatttgtccgtctccgacttctggagagtgatgatgcgggtgtgctggttggtgagacaggacagccggcaccagcgaatcagacttccacatttggaagcagttgtgattgggcgtggcccagagaccaagatcactgataagaaatgttctcgacagcaagtacagttgaaagcagagtgtaacaagggatatgtcaaggtaaagcaggtaggagtcaatcccaccagcattgactcagtcgtaattgggaaggaccaagaggtgaagctgcagcctggccaggttctccacatggaatccctgggccactggagtcaaggcttgaagatttctatgcaggaccccaaaatgcaggtttacaaagatgagcaggtggtggtgataaaggataaatacccaaaggcccgttaccattggctggtcttaccgtggacctccatttccagtctgaaggctgtggccagggaacaccttgaactccttaagcatatgcacactgtgggggaaaaggtgattgtagattttgctgggtccagcaaactccgcttccgattgggctaccacgccattccgagtatgagccatgtacatcttcatgtgatcagccaggattttgattctccttgccttaaaaacaaaaaacattggaattctttcaatacagaatacttcctagaatcacaagctgtgatcgagatggtacaagaggctggtagagtaactgtccgagatgggatgcctgagctcttgaagctgccccttcgttgtcatgagtgccagcagctgctgccttccattcctcagctgaaagaacatctcaggaagcactggacacagtgattctgcagagcctgagctgctgctgtggtgtggcccactggagcaaactgctggcacctattctgggttgcttgtgaacttctactcatttcctaaattaaaacatgcagctttttcacaaatttattctattattgagtggccacaatgtagagtggctcaaagtacttcaggattaggaatttgggtttgtcatagatgtattctctggtgagggtggctgggatatacctgacccaccatcttcagaaggacccatgtcaggtctgaccattgggagcaaagccatgttcacactgacctaatgcagagtatggaagcattgggctggttatacatttctgtttcttagatttatcctccgcctctgtaggcatggacaacctttaatcagagcatctagagtggcctcttgtttatcctgaagatactgatgggtcttgttttctgttagtctgttttgtaatattcttttcccttccttcatggggaggcttagtttgtccagtccttccatgcccttctatcccagattacctaaatgttcccttctcaggaattctgtctcatcagttcttcacagtgagaaaagaggctagatgatggtgtggggggttggagttttcttctaataccgagggttcctggctgtgaggaaacagccacatgttcgtcatgattgagctgtgaagtcttcttggacctgttgtctgaaaataaagttaatttgtttgaggcatctctcttaagtaggtggaaactattgaagttcagctaacaatcacagcataggttctgatgcatggaaaggtggttggtgaatgaaaaagttgcgtagagccactactttctttttccctgagaataaatttggataaaacagttgtattcaaaaaaaaaaa
//
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
This page is licensed under a Creative Commons Attribution 2.1 Japan License.