Version 5.4
Mus musculus Gene: Aptx
Summary
InnateDB Gene IDBG-136241.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Aptx
Gene Name aprataxin
Synonyms 2410016G21Rik; AA388047; FHA-HIT
Species Mus musculus
Ensembl Gene ENSMUSG00000028411
Encoded Proteins
IDBP-536213
aprataxin
IDBP-136245
aprataxin
IDBP-265235
aprataxin
IDBP-533428
aprataxin
IDBP-539457
aprataxin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000137074:
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 been identified for this gene.[provided by RefSeq, Aug 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:40682382-40703194
Strand Reverse strand
Band A5
Transcripts
ENSMUST00000068125 ENSMUSP00000124264
ENSMUST00000030119 ENSMUSP00000030119
ENSMUST00000108103 ENSMUSP00000103738
ENSMUST00000129021 ENSMUSP00000116966
ENSMUST00000128810
ENSMUST00000155710 ENSMUSP00000124769
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:0003677 DNA binding
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:0006281 DNA repair
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000137074
View Gene Order
ENSBTAG00000013947
Not yet available
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
INOH
PID NCI
dnapk_pathway
DNA-PK pathway in nonhomologous end joining
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.421685 Mm.430710
RefSeq NM_001025444 NM_001025445 NM_025545 XM_006538166 XM_006538167 XM_006538168 XM_006538169 XM_006538170 XM_006538171
OMIM
CCDS CCDS38711 CCDS38712
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca