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Aliases for APTX Gene

Aliases for APTX Gene

  • Aprataxin 2 3 5
  • Forkhead-Associated Domain Histidine Triad-Like Protein 3 4
  • FHA-HIT 3 4
  • AXA1 3 4
  • Ataxia 1, Early Onset With Hypoalbuminemia 2
  • EC 3.-.-.- 4
  • EOAHA 3
  • AOA1 3
  • EAOH 3
  • AOA 3

External Ids for APTX Gene

Previous HGNC Symbols for APTX Gene

  • AXA1

Previous GeneCards Identifiers for APTX Gene

  • GC09M033284
  • GC09M033142

Summaries for APTX Gene

Entrez Gene Summary for APTX Gene

  • 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]

GeneCards Summary for APTX Gene

APTX (Aprataxin) is a Protein Coding gene. Diseases associated with APTX include Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia and Aptx-Related Coenzyme Q10 Deficiency. GO annotations related to this gene include chromatin binding and protein N-terminus binding. An important paralog of this gene is PNKP.

UniProtKB/Swiss-Prot for APTX Gene

  • 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.

Gene Wiki entry for APTX Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APTX Gene

Genomics for APTX Gene

Regulatory Elements for APTX Gene

Enhancers for APTX Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around APTX on UCSC Golden Path with GeneCards custom track

Promoters for APTX Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around APTX on UCSC Golden Path with GeneCards custom track

Genomic Location for APTX Gene

Chromosome:
9
Start:
32,972,606 bp from pter
End:
33,025,168 bp from pter
Size:
52,563 bases
Orientation:
Minus strand

Genomic View for APTX Gene

Genes around APTX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APTX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APTX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APTX Gene

Proteins for APTX Gene

  • Protein details for APTX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z2E3-APTX_HUMAN
    Recommended name:
    Aprataxin
    Protein Accession:
    Q7Z2E3
    Secondary Accessions:
    • A8MTN4
    • D3DRK9
    • D3DRL0
    • Q0P662
    • Q5T781
    • Q5T782
    • Q5T784
    • Q6JV81
    • Q6JV82
    • Q6JV85
    • Q7Z2F3
    • Q7Z336
    • Q7Z5R5
    • Q7Z6V7
    • Q7Z6V8
    • Q9NXM5

    Protein attributes for APTX Gene

    Size:
    356 amino acids
    Molecular mass:
    40740 Da
    Quaternary structure:
    • Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL. Interacts (via FHA-like domain) with MDC1 (phosphorylated).

    Three dimensional structures from OCA and Proteopedia for APTX Gene

    Alternative splice isoforms for APTX Gene

neXtProt entry for APTX Gene

Proteomics data for APTX Gene at MOPED

Post-translational modifications for APTX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APTX Gene

Domains & Families for APTX Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z2E3

UniProtKB/Swiss-Prot:

APTX_HUMAN :
  • The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.
  • Contains 1 C2H2-type zinc finger.
Domain:
  • The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide.
  • The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4.
  • The HIT domain is required for enzymatic activity.
  • The C2H2-type zinc finger mediates DNA-binding.
  • Contains 1 FHA-like domain.
  • Contains 1 HIT domain.
Similarity:
  • Contains 1 C2H2-type zinc finger.
genes like me logo Genes that share domains with APTX: view

No data available for Gene Families for APTX Gene

Function for APTX Gene

Molecular function for APTX Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18 uM for AppppA; KM=837.5 uM for AMP-NH(2);
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for APTX Gene

Gene Ontology (GO) - Molecular Function for APTX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 16547001
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IEA,IPI 14755728
GO:0033699 DNA 5-adenosine monophosphate hydrolase activity IEA,IDA 16547001
genes like me logo Genes that share ontologies with APTX: view
genes like me logo Genes that share phenotypes with APTX: view

Human Phenotype Ontology for APTX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APTX Gene

MGI Knock Outs for APTX:

Animal Model Products

  • Taconic Biosciences Mouse Models for APTX

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for APTX Gene

Localization for APTX Gene

Subcellular locations from UniProtKB/Swiss-Prot for APTX Gene

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APTX Gene COMPARTMENTS Subcellular localization image for APTX gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for APTX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 colocalizes_with nuclear chromatin IDA 20008512
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with APTX: view

Pathways & Interactions for APTX Gene

SuperPathways for APTX Gene

No Data Available

SIGNOR curated interactions for APTX Gene

Is activated by:

Gene Ontology (GO) - Biological Process for APTX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006974 cellular response to DNA damage stimulus IMP 15044383
GO:0031647 regulation of protein stability IMP 16777843
GO:0042542 response to hydrogen peroxide IDA 15044383
GO:0098506 polynucleotide 3 dephosphorylation IDA 17519253
genes like me logo Genes that share ontologies with APTX: view

No data available for Pathways by source for APTX Gene

Drugs & Compounds for APTX Gene

(1) Drugs for APTX Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for APTX Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with APTX: view

Transcripts for APTX Gene

Unigene Clusters for APTX Gene

Aprataxin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for APTX Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b ·
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - - - - -
SP4: - - - - - -
SP5: - - - - - -
SP6: - - - - -
SP7: - - - - -
SP8: - - - -
SP9: - - - -
SP10: - -
SP11: - - - -
SP12: - -
SP13: - - - -
SP14: - - - -
SP15: - - - - - - - - - - - -
SP16: - - - - - - - - - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - -
SP20: - - - - - -
SP21: - - - -
SP22: - - - - - -
SP23: - - - - - -
SP24: - - - - -
SP25: - - -
SP26: - - - - - - - -
SP27:
SP28: - - - - - - - - - -
SP29: - - - - - - -
SP30: - - - - - - - - -
SP31: - - - - - -
SP32: - - - - -
SP33: - - - - - - -
SP34: - -

ExUns: 10c · 10d · 10e ^ 11 ^ 12a · 12b
SP1: - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - -
SP7: - -
SP8: - -
SP9: - -
SP10: - -
SP11: - -
SP12: - -
SP13: - -
SP14: -
SP15: - -
SP16:
SP17:
SP18: - -
SP19: - - - -
SP20: - - - -
SP21: - - - -
SP22: - - - -
SP23:
SP24:
SP25:
SP26: - -
SP27: -
SP28:
SP29:
SP30:
SP31:
SP32:
SP33:
SP34:

Relevant External Links for APTX Gene

GeneLoc Exon Structure for
APTX
ECgene alternative splicing isoforms for
APTX

Expression for APTX Gene

mRNA expression in normal human tissues for APTX Gene

Protein differential expression in normal tissues from HIPED for APTX Gene

This gene is overexpressed in Pancreas (12.5), Spleen (12.2), Testis (10.9), Lung (8.6), and Blymphocyte (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for APTX Gene



SOURCE GeneReport for Unigene cluster for APTX Gene Hs.20158

mRNA Expression by UniProt/SwissProt for APTX Gene

Q7Z2E3-APTX_HUMAN
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.
genes like me logo Genes that share expression patterns with APTX: view

Protein tissue co-expression partners for APTX Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for APTX Gene

Orthologs for APTX Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for APTX Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APTX 35
  • 89.42 (n)
  • 88.2 (a)
APTX 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APTX 35
  • 92.94 (n)
  • 92.35 (a)
APTX 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aptx 35
  • 88.29 (n)
  • 87.09 (a)
Aptx 16
Aptx 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia APTX 35
  • 99.63 (n)
  • 99.44 (a)
APTX 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aptx 35
  • 86.03 (n)
  • 85.02 (a)
oppossum
(Monodelphis domestica)
Mammalia APTX 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APTX 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves APTX 35
  • 64.53 (n)
  • 63.27 (a)
APTX 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APTX 36
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aptx 35
  • 63.37 (n)
  • 64.97 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398657 35
zebrafish
(Danio rerio)
Actinopterygii aptx 35
  • 61.68 (n)
  • 61.06 (a)
aptx 36
  • 59 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6392 35
fruit fly
(Drosophila melanogaster)
Insecta CG5316 36
  • 11 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HNT3 36
  • 18 (a)
OneToMany
HNT3 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for APTX:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APTX Gene

ENSEMBL:
Gene Tree for APTX (if available)
TreeFam:
Gene Tree for APTX (if available)

Paralogs for APTX Gene

Paralogs for APTX Gene

(1) SIMAP similar genes for APTX Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with APTX: view

Variants for APTX Gene

Sequence variations from dbSNP and Humsavar for APTX Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_018794 Ataxia-oculomotor apraxia syndrome (AOA)
VAR_018795 Ataxia-oculomotor apraxia syndrome (AOA)
rs150886026 Ataxia-oculomotor apraxia syndrome (AOA) 32,984,805(+) GGTAA(C/T)GGGCC intron-variant, nc-transcript-variant, reference, missense
VAR_018797 Ataxia-oculomotor apraxia syndrome (AOA)
VAR_018798 Ataxia-oculomotor apraxia syndrome (AOA)

Structural Variations from Database of Genomic Variants (DGV) for APTX Gene

Variant ID Type Subtype PubMed ID
nsv6522 CNV Insertion 18451855
esv2670354 CNV Deletion 23128226
nsv438101 CNV Loss 16468122

Variation tolerance for APTX Gene

Residual Variation Intolerance Score: 27.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APTX Gene

Human Gene Mutation Database (HGMD)
APTX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APTX Gene

Disorders for APTX Gene

MalaCards: The human disease database

(16) MalaCards diseases for APTX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • ataxia with oculomotor apraxia type 1
aptx-related coenzyme q10 deficiency
  • coenzyme q10 deficiency, primary, 1
apraxia
  • dyspraxia
ataxia
peroneal nerve paralysis
  • peroneal nerve palsy
- elite association - COSMIC cancer census association via MalaCards
Search APTX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APTX_HUMAN
  • 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:0000269 PubMed:11586299, ECO:0000269 PubMed:11586300, ECO:0000269 PubMed:12196655, ECO:0000269 PubMed:12629250, ECO:0000269 PubMed:14506070, ECO:0000269 PubMed:15699391, ECO:0000269 PubMed:15852392}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for APTX

Genetic Association Database (GAD)
APTX
Human Genome Epidemiology (HuGE) Navigator
APTX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APTX
genes like me logo Genes that share disorders with APTX: view

No data available for Genatlas for APTX Gene

Publications for APTX Gene

  1. The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn- finger protein aprataxin. (PMID: 11586300) Moreira M.-C. … Koenig M. (Nat. Genet. 2001) 2 3 4 23 67
  2. Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. (PMID: 11586299) Date H. … Tsuji S. (Nat. Genet. 2001) 2 3 23
  3. Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene. (PMID: 19953284) Daiou C. … Hadjigeorgiou G.M. (Neurol. Sci. 2010) 3 23
  4. CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. (PMID: 20008512) Becherel O.J. … Lavin M.F. (Nucleic Acids Res. 2010) 3 23
  5. Aprataxin tumor levels predict response of colorectal cancer patients to irinotecan-based treatment. (PMID: 20371676) Dopeso H. … Arango D. (Clin. Cancer Res. 2010) 3 23

Products for APTX Gene

Sources for APTX Gene

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