Version 5.4
Homo sapiens Gene: APTX
Summary
InnateDB Gene IDBG-56157.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APTX
Gene Name aprataxin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000137074
Encoded Proteins
IDBP-56159
aprataxin
IDBP-56163
aprataxin
IDBP-56167
aprataxin
IDBP-56169
aprataxin
IDBP-56171
aprataxin
IDBP-56175
aprataxin
IDBP-235874
aprataxin
IDBP-366226
aprataxin
IDBP-474227
aprataxin
IDBP-479050
aprataxin
IDBP-476363
aprataxin
IDBP-478184
aprataxin
IDBP-478476
aprataxin
IDBP-477164
aprataxin
IDBP-480476
aprataxin
IDBP-482709
aprataxin
IDBP-473465
aprataxin
IDBP-482359
aprataxin
IDBP-480389
aprataxin
IDBP-481120
aprataxin
IDBP-480700
aprataxin
IDBP-474869
aprataxin
IDBP-480916
aprataxin
IDBP-482671
aprataxin
IDBP-482779
aprataxin
IDBP-476597
aprataxin
IDBP-475429
aprataxin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 9:32972606-33025168
Strand Reverse strand
Band p21.1
Transcripts
ENST00000309615 ENSP00000311547
ENST00000379825 ENSP00000369153
ENST00000379819 ENSP00000369147
ENST00000379817 ENSP00000369145
ENST00000379813 ENSP00000369141
ENST00000379812 ENSP00000369140
ENST00000397172 ENSP00000380357
ENST00000436040 ENSP00000400806
ENST00000494649 ENSP00000417634
ENST00000465003 ENSP00000419430
ENST00000485479 ENSP00000418144
ENST00000467331 ENSP00000418733
ENST00000472896 ENSP00000417804
ENST00000483148 ENSP00000419723
ENST00000482687 ENSP00000419289
ENST00000460940 ENSP00000418311
ENST00000479656 ENSP00000420071
ENST00000468275 ENSP00000420263
ENST00000474658 ENSP00000417750
ENST00000476858 ENSP00000419042
ENST00000463596 ENSP00000419846
ENST00000495360 ENSP00000419623
ENST00000486724
ENST00000473221 ENSP00000419020
ENST00000464632 ENSP00000418069
ENST00000478279 ENSP00000419597
ENST00000480031 ENSP00000417684
ENST00000477119 ENSP00000417649
ENST00000496030
ENST00000460945
ENST00000494973
ENST00000473270
ENST00000489583
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: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:0008219 cell death
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
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028411
View Gene Order
ENSBTAG00000013947
Not yet available
Pathways
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 Hs.20158 Hs.706131 Hs.734329
RefSeq NM_001195248 NM_001195249 NM_001195250 NM_001195251 NM_001195252 NM_001195254 NM_175069 NM_175073 XM_006716791 XM_006716792
HUGO
OMIM
CCDS CCDS47956 CCDS56568 CCDS75827
HPRD 05892
IMGT
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