Aprataxin

APTX
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3KT9, 4NDF, 4NDG, 4NDH, 4NDI
Identifiers
Aliases	APTX, AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, aprataxin
External IDs	OMIM: 606350; MGI: 1913658; HomoloGene: 41634; GeneCards: APTX; OMA:APTX - orthologs
Gene location (Human)
Chr.	Chromosome 9 (human)
End	33,025,168 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	40,703,194 bp
RNA expression pattern
	Top expressed in
	epithelium of colon; ; islet of Langerhans; ; gonad; ; skin of leg; ; right adrenal cortex; ; skin of abdomen; ; stromal cell of endometrium; ; left adrenal gland; ; right uterine tube; ; mucosa of transverse colon;
	Top expressed in
	seminiferous tubule; ; spermatid; ; neural layer of retina; ; morula; ; ventricular zone; ; superior frontal gyrus; ; granulocyte; ; ganglionic eminence; ; muscle of thigh; ; neural tube;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA binding; protein N-terminus binding; polynucleotide 3'-phosphatase activity; chromatin binding; metal ion binding; damaged DNA binding; phosphoprotein binding; protein binding; phosphoglycolate phosphatase activity; catalytic activity; double-stranded RNA binding; double-stranded DNA binding; hydrolase activity; DNA 5'-adenosine monophosphate hydrolase activity; nucleic acid binding; DNA-3'-diphospho-5'-guanosine diphosphatase; single-stranded DNA binding; mismatched DNA binding; single-strand break-containing DNA binding;
Cellular component	cytoplasm; chromatin; nucleolus; nucleus; nucleoplasm;
Biological process	regulation of protein stability; cellular response to DNA damage stimulus; DNA ligation; double-strand break repair; response to hydrogen peroxide; DNA repair; polynucleotide 3' dephosphorylation; nucleic acid phosphodiester bond hydrolysis; single strand break repair; dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	54840
	66408
	ENSG00000137074
	ENSMUSG00000028411
	Q7Z2E3
	Q7TQC5
NM_001195248; NM_001195249; NM_001195250; NM_001195251; NM_001195252;
	NM_001195254; NM_017692; NM_175069; NM_175072; NM_175073
	NM_001025444; NM_001025445; NM_025545
NP_001182177; NP_001182178; NP_001182179; NP_001182180; NP_001182181;
	NP_001182183; NP_778239; NP_778243; NP_001355924; NP_001355925; NP_001355926; NP_001355927; NP_001355928; NP_001355929; NP_001355930; NP_001355931; NP_001355932; NP_001355933; NP_001355934; NP_001355935; NP_001357598; NP_001357599; NP_001357602
	NP_001020615; NP_001020616; NP_079821
	Wikidata
View/Edit Human	View/Edit Mouse

Aprataxin is a protein that in humans is encoded by the APTX gene.

This gene encodes a member of the histidine triad (HIT) superfamily, some of which have nucleotide-binding and diadenosine polyphosphate hydrolase activities. The encoded protein may play a role in single-stranded DNA repair. Mutations in this gene have been associated with ataxia–ocular apraxia. Multiple transcript variants encoding distinct isoforms have been identified for this gene, however, the full length nature of some variants has not been determined.