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
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000012; single strand break repair
GO:0006266; DNA ligation
GO:0006302; double-strand break repair
GO:0006974; cellular response to DNA damage stimulus
GO:0008219; cell death
GO:0031647; regulation of protein stability
GO:0042542; response to hydrogen peroxide
GO:0098506; polynucleotide 3' dephosphorylation
Cellular component: GO:0000785; chromatin
GO:0000790; nuclear chromatin
GO:0005654; nucleoplasm
GO:0005730; nucleolus
GO:0005737; cytoplasm
Function: 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:0046403; polynucleotide 3'-phosphatase activity
GO:0046872; metal ion binding
GO:0047485; protein N-terminus binding
GO:0051219; phosphoprotein binding
And 1 more GO terms
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, PARP1, POLB
STRING interaction network
Protein-Protein network diagram for APTX

Retrieve sequences for APTX

ORF
ORF
CDS
CDS

Homologs in model organisms

Danio rerio
aptx
Mus musculus
Aptx
Rattus norvegicus
Aptx
Schizosaccharomyces pombe
hnt3

In other databases

LongevityMap
  • This gene is present as APTX

Selected references

External links

EPD
ORF Accession
NM_175073
CDS Accession
NP_778243
OMIM
606350
HPRD
05892
Ensembl
APTX
UniProt/Swiss-Prot
APTX_HUMAN
GeneCards
APTX
Entrez Gene
54840
UniGene
20158
GenAtlas
APTX
Internet
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