Mus musculus Protein: Aptx
Summary
InnateDB Protein IDBP-536213.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Aptx
Protein Name aprataxin
Synonyms 2410016G21Rik; AA388047; FHA-HIT;
Species Mus musculus
Ensembl Protein ENSMUSP00000124264
InnateDB Gene IDBG-136241 (Aptx)
Protein Structure
UniProt Annotation
Function DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair. Resolves abortive DNA ligation intermediates formed either at base excision sites, or when DNA ligases attempt to repair non- ligatable breaks induced by reactive oxygen species. Catalyzes the release of adenylate groups covalently linked to 5'-phosphate termini, resulting in the production of 5'-phosphate termini that can be efficiently rejoined. Also able to hydrolyze adenosine 5'- monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. {ECO:0000269PubMed:16964241}.
Subcellular Localization Nucleus, nucleoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. Note=Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is required for nucleolar localization (By similarity). {ECO:0000250}.
Disease Associations
Tissue Specificity Widely expressed. Expressed in heart, liver, kidney, spleen, lung, muscle, brain stem, spinal cord, cerebellum and brain. {ECO:0000269PubMed:11586300}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 23 interaction(s) predicted by orthology.
Predicted by orthology
Total 23 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003682 chromatin binding
GO:0003684 damaged DNA binding
GO:0003690 double-stranded DNA binding
GO:0003725 double-stranded RNA binding
GO:0003824 catalytic activity
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
Biological Process
GO:0000012 single strand break repair
GO:0000738 DNA catabolic process, exonucleolytic
GO:0006266 DNA ligation
GO:0006302 double-strand break repair
GO:0006974 cellular response to DNA damage stimulus
GO:0016311 dephosphorylation
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:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
Protein Structure and Domains
PDB ID MGI:1913658
InterPro IPR001310 Histidine triad (HIT) protein
IPR007087 Zinc finger, C2H2
IPR008984 SMAD/FHA domain
IPR011146 HIT-like domain
PFAM PF01230
PF00096
PRINTS PR00332
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q7TQC5
PhosphoSite PhosphoSite-Q7TQC5
TrEMBL
UniProt Splice Variant
Entrez Gene 66408
UniGene Mm.430710
RefSeq NP_079821
MGI ID
MGI Symbol Aptx
OMIM
CCDS CCDS38711
HPRD
IMGT
EMBL AK005286 AK010516 AK077351 AK088928 AY040780 AY040782 AY208844 BC021872
GenPept AAH21872 AAK91771 AAK91773 AAP86334 BAB23933 BAB26998 BAC36763 BAC40657