InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: APTX

Summary

InnateDB Protein

IDBP-56167.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

APTX

Protein Name

aprataxin

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000369147

InnateDB Gene

IDBG-56157 (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-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity. {ECO:0000269PubMed:14755728, ECO:0000269PubMed:15044383, ECO:0000269PubMed:16547001, ECO:0000269PubMed:16964241, ECO:0000269PubMed:17276982}.

Subcellular Localization

Nucleus, nucleoplasm. Nucleus, nucleolus. 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.Isoform 12: Cytoplasm.

Disease Associations

Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]: An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. {ECO:0000269PubMed:11586299, ECO:0000269PubMed:11586300, ECO:0000269PubMed:12196655, ECO:0000269PubMed:12629250, ECO:0000269PubMed:14506070, ECO:0000269PubMed:15699391, ECO:0000269PubMed:15852392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. In brain, it is expressed in the posterior cortex, cerebellum, hippocampus and olfactory bulb. Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2. {ECO:0000269PubMed:11586299, ECO:0000269PubMed:11586300, ECO:0000269PubMed:14755728}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	26 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

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:0006302	double-strand break repair
GO:0006974	cellular response to DNA damage stimulus
GO:0008219	cell death
GO:0016311	dephosphorylation
GO:0031647	regulation of protein stability
GO:0042542	response to hydrogen peroxide
GO:0098506	polynucleotide 3' dephosphorylation