Tbio APTX Aprataxin

Protein Summary

Description

DNA-binding protein involved in single-strand DNA break repair, double-strand DNA break repair and base excision repair (PubMed:15380105, PubMed:15044383, PubMed:16964241, PubMed:17276982, PubMed:24362567). 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 (PubMed:16964241, PubMed:24362567). 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 (PubMed:16964241, PubMed:17276982, PubMed:24362567). Also able to hydrolyze adenosine 5'-monophosphoramidate (AMP-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity (PubMed:16547001). Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA) (By similarity). 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]

Uniprot Accession IDs

• Q7Z2E3
• A8MTN4
• D3DRK9
• D3DRL0
• Q0P662
• Q5T781
• Q5T782
• Q5T784
• Q6JV81
• Q6JV82
• Q6JV85
• Q7Z2F3
• Q7Z336
• Q7Z5R5
• Q7Z6V7
• Q7Z6V8
• Q9NXM5

Gene Name

• APTX

Ensembl ID

• ENST00000309615
• ENSP00000311547
• ENSG00000137074
• ENST00000379817
• ENSP00000369145
• ENST00000379819
• ENSP00000369147
• ENST00000379825
• ENSP00000369153
• ENST00000397172
• ENSP00000380357
• ENST00000436040
• ENSP00000400806
• ENST00000460940
• ENSP00000418311
• ENST00000463596
• ENSP00000419846
• ENST00000467331
• ENSP00000418733
• ENST00000468275
• ENSP00000420263
• ENST00000472896
• ENSP00000417804
• ENST00000476858
• ENSP00000419042
• ENST00000479656
• ENSP00000420071
• ENST00000482687
• ENSP00000419289
• ENST00000485479
• ENSP00000418144
• ENST00000494649
• ENSP00000417634
• ENST00000495360
• ENSP00000419623

Symbol

• AXA1
• AOA
• AOA1
• AXA1
• EAOH
• EOAHA
• FHA-HIT

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	0.97
molecular function	0.96
histone modification site profile	0.91
virus perturbation	0.83
cellular component	0.82

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Aprataxin

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Damaged Dna-binding Protein / Aprataxin

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 171.83   (req: < 5)

Gene RIFs: 47   (req: <= 3)

Antibodies: 223   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 171.83   (req: >= 5)

Gene RIFs: 47   (req: > 3)

Antibodies: 223   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0