NP_001182177.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
21,389 Da
NCBI Official Full Name
aprataxin isoform e
NCBI Official Synonym Full Names
aprataxin
NCBI Official Synonym Symbols
AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT [Similar Products]
NCBI Protein Information
aprataxin
UniProt Protein Name
Aprataxin
UniProt Synonym Protein Names
Forkhead-associated domain histidine triad-like protein; FHA-HIT
UniProt Synonym Gene Names
UniProt Entry Name
APTX_HUMAN
NCBI Summary for APTX
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]
UniProt Comments for APTX
APTX: DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non- ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'- monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA). AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. 13 isoforms of the human protein are produced by alternative splicing.
Protein type: C2H2-type zinc finger protein; DNA repair, damage; EC 3.-.-.-; Phosphatase (non-protein); Nucleolus; RNA-binding
Chromosomal Location of Human Ortholog: 9p13.3
Cellular Component: nucleoplasm; nuclear chromatin; cytoplasm; nucleolus; chromatin; nucleus
Molecular Function: protein binding; DNA 5'-adenosine monophosphate hydrolase activity; phosphoglycolate phosphatase activity; polynucleotide 3'-phosphatase activity; metal ion binding; double-stranded DNA binding; double-stranded RNA binding; damaged DNA binding; protein N-terminus binding; phosphoprotein binding; chromatin binding
Biological Process: single strand break repair; response to hydrogen peroxide; dephosphorylation; double-strand break repair; regulation of protein stability; DNA catabolic process, exonucleolytic; response to DNA damage stimulus; DNA ligation
Disease: Ataxia, Early-onset, With Oculomotor Apraxia And Hypoalbuminemia
Research Articles on APTX
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Products associated with anti-APTX antibody
Diseases associated with anti-APTX antibody
Organs/Tissues associated with anti-APTX antibody
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