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Aliases for APTX Gene

Aliases for APTX Gene

  • Aprataxin 2 3
  • Forkhead-Associated Domain Histidine Triad-Like Protein 3 4
  • FHA-HIT 3 4
  • AXA1 3 4
  • AOA1 3 6
  • AOA 3 6
  • Ataxia 1, Early Onset With Hypoalbuminemia 2
  • EC 3.-.-.- 4
  • EOAHA 3
  • EAOH 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for APTX Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for APTX Gene

Graphical View of Domain Structure for InterPro Entry

Q7Z2E3

UniProtKB/Swiss-Prot:

APTX_HUMAN :
  • Q7Z2E3
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 --
GO:0003682 chromatin binding IDA 15044383
GO:0003684 damaged DNA binding IDA 14755728
GO:0003690 double-stranded DNA binding IDA 16547001
GO:0003725 double-stranded RNA binding IDA 16547001
genes like me logo Genes that share ontologies with APTX: view

Phenotypes for APTX Gene

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

Animal Models for APTX Gene

MGI Knock Outs for APTX:

Animal Model Products

miRNA for APTX Gene

miRTarBase miRNAs that target APTX

No data available for Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for APTX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 15044383
GO:0000790 colocalizes_with nuclear chromatin IDA 20008512
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA 15044383
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with APTX: view

Pathways for APTX Gene

SuperPathways for APTX Gene

No Data Available

Gene Ontology (GO) - Biological Process for APTX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000012 single strand break repair IDA 14755728
GO:0000738 DNA catabolic process, exonucleolytic --
GO:0006266 DNA ligation IEA --
GO:0006281 DNA repair --
GO:0006302 double-strand break repair IDA 17519253
genes like me logo Genes that share ontologies with APTX: view

No data available for Pathways by source for APTX Gene

Compounds for APTX Gene

(1) HMDB Compounds for APTX Gene

Compound Synonyms Cas Number PubMed IDs
Phosphate
  • NFB Orthophosphate
14265-44-2

(6) Novoseek inferred chemical compound relationships for APTX Gene

Compound -log(P) Hits PubMed IDs
polynucleotide 75.8 4
coq10 50.4 2
methylmethanesulfonate 45.6 1
zinc 29.8 5
alpha tocopherol 18.5 2
genes like me logo Genes that share compounds with APTX: view

Transcripts for APTX Gene

Unigene Clusters for APTX Gene

Aprataxin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APTX

Primer Products

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with APTX: view

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia APTX 35
  • 99.63 (n)
  • 99.44 (a)
APTX 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia APTX 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APTX 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aptx 35
  • 86.03 (n)
  • 85.02 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia LOC398657 35
tropical clawed frog
(Silurana tropicalis)
Amphibia aptx 35
  • 63.37 (n)
  • 64.97 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6392 35
zebrafish
(Danio rerio)
Actinopterygii aptx 35
  • 61.68 (n)
  • 61.06 (a)
aptx 36
  • 59 (a)
OneToOne
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

Selected 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 MAF
rs884546 -- 32,987,453(+) CTCAC(A/G)CATTT intron-variant
rs944622 -- 32,993,275(+) ACAAC(A/G)GTTAT intron-variant
rs1016673 -- 32,982,450(+) ACAGT(C/T)AGTAT intron-variant
rs1016674 -- 32,982,689(+) GTGAG(C/T)ATTCT intron-variant
rs1125479 -- 32,983,445(-) atctt(G/T)tcact intron-variant

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

Relevant External Links for APTX Gene

HapMap Linkage Disequilibrium report
APTX
Human Gene Mutation Database (HGMD)
APTX

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

Disorders for APTX Gene

(1) OMIM Diseases for APTX Gene (606350)

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.

(10) Novoseek inferred disease relationships for APTX Gene

Disease -log(P) Hits PubMed IDs
apraxia motor 96.7 8
eoca-ha 94.2 2
apraxias 92.3 18
cerebellar ataxia early onset 90 2
hypoalbuminemia 84 7

Relevant External Links for APTX

GeneTests
APTX
GeneReviews
APTX
Genetic Association Database (GAD)
APTX
Human Genome Epidemiology (HuGE) Navigator
APTX
genes like me logo Genes that share disorders with APTX: view

Publications for APTX Gene

  1. 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 4 23
  2. 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
  3. Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies. (PMID: 14506070) Le Ber I. … Duerr A. (Brain 2003) 3 4 23
  4. Aprataxin, a novel protein that protects against genotoxic stress. (PMID: 15044383) Gueven N. … Lavin M.F. (Hum. Mol. Genet. 2004) 3 4 23
  5. Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. (PMID: 15276230) Hirano M. … Ueno S. (Neurosci. Lett. 2004) 3 4 23

Products for APTX Gene

Sources for APTX Gene

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