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: 131.88   (req: < 5)

Gene RIFs: 42   (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: 131.88   (req: >= 5)

Gene RIFs: 42   (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

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (120)

Explore Interacting Targets

1 – 10 of 120

• See Interactions on String-DB

XRCC4

Tbio

Novelty:  0.00305644

p_int:  0.999999999

p_ni:  1e-9

Score:  0.987

Data Source:  BioPlex,STRINGDB

BAD

Tchem

Novelty:  0.01273317

p_int:  0.999850866

p_ni:  0.00014911

p_wrong:  2.4e-8

Score:  0.54

Data Source:  BioPlex,STRINGDB

POLB

Tchem

Family:  Enzyme

Novelty:  0.00145102

p_int:  0.998968517

p_ni:  0.000015786

p_wrong:  0.001015697

Score:  0.593

Data Source:  BioPlex,STRINGDB

KIF3A

Tbio

Novelty:  0.00555124

p_int:  0.956411486

p_ni:  0.043587937

p_wrong:  5.77e-7

Score:  0.203

Data Source:  BioPlex,STRINGDB

XRCC5

Tbio

Novelty:  0.00150735

Score:  0.971

Data Source:  STRINGDB

LIG4

Tbio

Family:  Enzyme

Novelty:  0.00412993

Score:  0.969

Data Source:  STRINGDB

XRCC6

Tbio

Novelty:  0.00127955

Score:  0.962

Data Source:  STRINGDB

XRCC1

Tbio

Novelty:  0.00084203

Score:  0.959

Data Source:  STRINGDB

PRKDC

Tchem

Family:  Kinase

Novelty:  0.00107984

Score:  0.954

Data Source:  STRINGDB

DCLRE1C

Tbio

Novelty:  0.01064408

Score:  0.941

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (1)

PathwayCommons (1)

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5

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Data Source	Name	Explore in Pharos	Explore in Source
PathwayCommons: pid	DNA-PK pathway in nonhomologous end joining	13 targets	PathwayCommons: pid

Name	Explore in Pharos	Explore in Source
DNA-PK pathway in nonhomologous end joining	13 targets	PathwayCommons: pid

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (25)

Functions (14)

Components (5)

Processes (6)

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10

1 – 10 of 14

GO Term	Evidence	Assigned by
chromatin binding	Inferred from Direct Assay (IDA)	UniProtKB
damaged DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
DNA 5'-adenosine monophosphate hydrolase activity	Inferred from Direct Assay (IDA)	UniProtKB
double-stranded DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
double-stranded RNA binding	Inferred from Direct Assay (IDA)	UniProtKB
phosphoglycolate phosphatase activity	Inferred from Direct Assay (IDA)	UniProtKB
polynucleotide 3'-phosphatase activity	Inferred from Direct Assay (IDA)	UniProtKB
phosphoprotein binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein N-terminus binding	Inferred from Physical Interaction (IPI)	UniProtKB
mismatched DNA binding	Inferred from Biological aspect of Ancestor (IBA)	GO_Central

Disease Associations ()

No disease associations found

GWAS Traits (12)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 12

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
aspartate aminotransferase measurement	EFO_0004736	2	2	1	11.9	90.6
urate measurement	EFO_0004531	2	2	2		62.8
self reported educational attainment	EFO_0004784	1	1	1		53.7
ferritin measurement	EFO_0004459	1	1	1		50.6
hemoglobin measurement	EFO_0004509	1	1	1		44.2

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 12

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
aspartate aminotransferase measurement	EFO_0004736	1	11.9	90.6
urate measurement	EFO_0004531	2		62.8
self reported educational attainment	EFO_0004784	1		53.7
ferritin measurement	EFO_0004459	1		50.6
hemoglobin measurement	EFO_0004509	1		44.2

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Alternative splicing
Complete proteome
Cytoplasm
Disease mutation
DNA damage
DNA repair
DNA-binding
Hydrolase
Metal-binding

GWAS Trait Find Similar Targets

No Header	No Header
age at menopause
aspartate aminotransferase measurement
ferritin measurement
hematocrit
hemoglobin measurement
mathematical ability
peripheral neuropathy
red blood cell density measurement
response to vincristine
self reported educational attainment

MGI Phenotype Find Similar Targets

No Header	No Header
cellular phenotype
homeostasis/metabolism phenotype
skeleton phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

Orthologs (13)

1 – 5 of 13

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	aprataxin	VGNC:8801	465037
Macaque	aprataxin		702671
Mouse	aprataxin	MGI:1913658	66408
Rat	aprataxin	RGD:628740	259271
Dog	aprataxin	VGNC:38015	442943

Species	Name	OMA	EggNOG	Inparanoid
Chimp	aprataxin
Macaque	aprataxin
Mouse	aprataxin
Rat	aprataxin
Dog	aprataxin

Publication Statistics

PubMed Score 131.88

PubMed score by year

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PubTator Score 111.90

PubTator score by year

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Related Publications

Text Mined References (67)

GeneRif Annotations (42)

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PMID	Year	Title