QuickView for aprataxin;jsessionid=FC493CA16F487CE6E691C8325DD6DC97;jsessionid=DE724C41CA80AD67FD85D9E2C13DF2A1 (gene)
- Gene Symbol:
- APTX
Homo sapiens - Full name:
- aprataxin
- Synonyms:
- AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT, aprataxin, forkhead-associated domain histidine triad-like protein
- Genomic Location:
- Chr 9: 32962608-32991626
- Description:
-
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 be...
- Orthologs:
- Mus musculus , Rattus norvegicus , Macaca mulatta , Bos taurus , Gallus gallus , Danio rerio , Canis lupus familiaris , Pan troglodytes
- External Links:
- Entrez Gene
- Transcription Factor
Binding Sites:
- Cytogenetic Map:
-
9p21.1
GO Molecular Function
nuclease activity | cation binding | DNA-3'-diphospho-5'-guanosine diphosphatase | single-strand break-containing DNA binding | nucleic acid binding | phosphatase activity | hydrolase activity | single-stranded DNA binding | mismatched DNA binding | catalytic activity | chromatin binding | protein N-terminus binding | exodeoxyribonuclease activity | 5'-3' exodeoxyribonuclease activity | deoxyribonuclease activity | DNA 5'-adenosine monophosphate hydrolase activity | DNA binding | hydrolase activity, acting on ester bonds | damaged DNA binding | ion binding | organic cyclic compound binding | phosphoprotein binding | protein binding | double-stranded DNA binding | phosphoric ester hydrolase activity | phosphoglycolate phosphatase activity | exonuclease activity | metal ion binding | heterocyclic compound binding | 5'-3' exonuclease activity | RNA binding | double-stranded RNA binding
GO Biological Process
double-strand break repair | nuclease activity | response to drug | response to antibiotic | cellular process | response to inorganic substance | response to hydrogen peroxide | organic cyclic compound metabolic process | cellular aromatic compound metabolic process | phosphatase activity | response to stimulus | response to stress | cellular nitrogen compound metabolic process | nucleic acid phosphodiester bond hydrolysis | DNA repair | nitrogen compound metabolic process | regulation of protein stability | phosphorus metabolic process | single strand break repair | cellular response to DNA damage stimulus | exodeoxyribonuclease activity | 5'-3' exodeoxyribonuclease activity | cellular response to stress | deoxyribonuclease activity | DNA 5'-adenosine monophosphate hydrolase activity | response to oxidative stress | response to toxic substance | phosphate-containing compound metabolic process | DNA metabolic process | metabolic process | phosphoglycolate phosphatase activity | nucleobase-containing compound metabolic process | organic substance metabolic process | response to reactive oxygen species | dephosphorylation | DNA ligation | exonuclease activity | heterocycle metabolic process | 5'-3' exonuclease activity | cellular metabolic process | macromolecule metabolic process
GO Cellular Component
chromosome | intracellular membrane-bounded organelle | cell | nuclear lumen | nucleolus | cytoplasm | intracellular organelle | nucleoplasm | chromatin | nuclear chromosome | membrane-bounded organelle | nucleus | organelle | membrane-enclosed lumen | nuclear chromatin | intracellular
