Aptx - aprataxin Gene

Also Known as FHA-HIT; 2410016G21Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 66408

Summary

Enables DNA 5'-adenosine monophosphate hydrolase activity. Involved in single strand break repair. Acts upstream of or within DNA ligation. Predicted to be located in nucleolus and nucleoplasm. Predicted to be active in nucleus. Predicted to colocalize with chromatin. Is expressed in several structures, including brain; cardiovascular system; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in ataxia with oculomotor apraxia type 1 and olivopontocerebellar atrophy. Orthologous to human APTX (aprataxin). [provided by Alliance of Genome Resources, Apr 2022]

Aptx Products (3)

mRNA Protein Name
NM_001025444.3 NP_001020615.1 aprataxin isoform b
NM_001025445.2 NP_001020616.1 aprataxin isoform c
NM_025545.4 NP_079821.3 aprataxin isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables DNA 5'-adenosine monophosphate hydrolase activity IMP
IMP: Inferred from mutant phenotype
16964241 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within DNA ligation IDA
IDA: Inferred from direct assay
16964241 MGI
involved in single strand break repair IMP
IMP: Inferred from mutant phenotype
16964241 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

aprataxin

  • forkhead-associated domain histidine triad-like protein

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-135782A iso-ADP ribose TEA 99.97% Unkown
HY-135782 iso-ADP ribose / Unkown
HY-RS00870 APTX Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Aptx NCBI NCBI:54840