Associated with
Other Information
Genular Protein ID: 302307883
Symbol: APTX_HUMAN
Name: Aprataxin
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 15276230
Title: Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
PubMed ID: 15276230
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 11586299
Title: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.
PubMed ID: 11586299
DOI: 10.1038/ng1001-184
PubMed ID: 11586300
Title: The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
PubMed ID: 11586300
DOI: 10.1038/ng1001-189
PubMed ID: 14755728
Title: Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein.
PubMed ID: 14755728
DOI: 10.1002/ana.10808
PubMed ID: 15380105
Title: The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.
PubMed ID: 15380105
PubMed ID: 15044383
Title: Aprataxin, a novel protein that protects against genotoxic stress.
PubMed ID: 15044383
DOI: 10.1093/hmg/ddh122
PubMed ID: 16777843
Title: Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription.
PubMed ID: 16777843
DOI: 10.1093/hmg/ddl149
PubMed ID: 16547001
Title: Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities.
PubMed ID: 16547001
PubMed ID: 16964241
Title: The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
PubMed ID: 16964241
DOI: 10.1038/nature05164
PubMed ID: 17276982
Title: Actions of aprataxin in multiple DNA repair pathways.
PubMed ID: 17276982
PubMed ID: 21406692
Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
PubMed ID: 21406692
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 20008512
Title: CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response.
PubMed ID: 20008512
DOI: 10.1093/nar/gkp1149
PubMed ID: 24362567
Title: Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
PubMed ID: 24362567
DOI: 10.1038/nature12824
PubMed ID: 12196655
Title: Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.
PubMed ID: 12196655
DOI: 10.1212/wnl.59.4.590
PubMed ID: 12629250
Title: Phenotypic variability of aprataxin gene mutations.
PubMed ID: 12629250
PubMed ID: 14506070
Title: Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies.
PubMed ID: 14506070
DOI: 10.1093/brain/awg283
PubMed ID: 15852392
Title: Very late onset in ataxia oculomotor apraxia type I.
PubMed ID: 15852392
DOI: 10.1002/ana.20463
PubMed ID: 15699391
Title: Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation.
PubMed ID: 15699391
Sequence Information:
- Length: 356
- Mass: 40740
- Checksum: 5B338490E35EC8E4
- Sequence:
MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL RKHWTQ
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.