GenAge entry for APTX (Homo sapiens)
Gene name (HAGRID: 95)
- HGNC symbol
- APTX
- Aliases
- FLJ20157; AOA; AOA1; EAOH; EOAHA; AXA1
- Common name
- aprataxin
Potential relevance to the human ageing process
- Main reason for selection
- Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
- Description
APTX is a member of the histidine triad superfamily encoding a number of transcripts. The APTX protein appears to be involved in DNA repair, and it interacts with DNA repair pathways as well as with ageing-related genes [1098]. Mutations in APTX have been associated with ataxia-ocular apraxia, a neurological disorder, as well as increased susceptibility to genotoxic stress [1099]. APTX has not been directly linked to human ageing, though a potential role should not be discarded.
Cytogenetic information
- Cytogenetic band
- 9p13.3
- Location
- 32,972,606 bp to 33,001,641 bp
- Orientation
- Minus strand
Protein information
- Gene Ontology
-
Process: GO:0000012; single strand break repair
GO:0006266; DNA ligation
GO:0006974; cellular response to DNA damage stimulus
GO:0016311; dephosphorylation
GO:0031647; regulation of protein stability
GO:0042542; response to hydrogen peroxide
GO:0090305; nucleic acid phosphodiester bond hydrolysis
Cellular component: GO:0000785; chromatin
GO:0000790; nuclear chromatin
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005730; nucleolus
GO:0005737; cytoplasm
Hide GO termsFunction: GO:0003682; chromatin binding
GO:0003684; damaged DNA binding
GO:0003690; double-stranded DNA binding
GO:0003725; double-stranded RNA binding
GO:0005515; protein binding
GO:0008967; phosphoglycolate phosphatase activity
GO:0033699; DNA 5'-adenosine monophosphate hydrolase activity
GO:0046872; metal ion binding
GO:0047485; protein N-terminus binding
GO:0051219; phosphoprotein binding
Protein interactions and network
Retrieve sequences for APTX
Homologs in model organisms
In other databases
- LongevityMap
- This gene is present as APTX