InnateDB Protein
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IDBP-56163.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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APTX
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Protein Name
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aprataxin
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000369153
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InnateDB Gene
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IDBG-56157 (APTX)
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Protein Structure
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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}.
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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.
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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.
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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}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
26
[view]
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Protein-Protein |
26
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001310
Histidine triad (HIT) protein
IPR008984
SMAD/FHA domain
IPR011146
HIT-like domain
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PFAM |
PF01230
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PRINTS |
PR00332
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q7Z2E3
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PhosphoSite |
PhosphoSite-Q7Z2E3
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
54840
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UniGene |
Hs.734329
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RefSeq |
NP_778239
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HUGO |
HGNC:15984
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OMIM |
606350
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CCDS |
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HPRD |
05892
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IMGT |
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EMBL |
AJ565850
AJ565851
AJ565852
AJ565853
AJ565854
AJ565855
AJ575566
AK000164
AK055672
AL162590
AL353717
AY040777
AY208829
AY208830
AY208831
AY208832
AY208833
AY208834
AY208835
AY208836
AY208837
AY208838
AY208839
AY208840
AY208841
AY208842
AY302067
AY302068
AY302070
AY302071
AY302072
AY302074
BC001628
BC032650
BC104881
BX538161
CH471071
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GenPept |
AAH01628
AAH32650
AAI04882
AAK91768
AAP86319
AAP86320
AAP86321
AAP86322
AAP86323
AAP86324
AAP86325
AAP86326
AAP86327
AAP86328
AAP86329
AAP86330
AAP86331
AAP86332
AAQ74130
AAQ74131
AAQ74133
AAQ74134
AAQ74135
AAQ74137
BAA90985
BAG51552
CAD92454
CAD92455
CAD92456
CAD92457
CAD92458
CAD92459
CAD98041
CAE01427
CAI15549
CAI15551
CAI15728
CAI15730
CAI15734
CAI15735
EAW58529
EAW58530
EAW58531
EAW58532
EAW58534
EAW58535
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