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Aliases for APTX Gene

Aliases for APTX Gene

  • Aprataxin 2 3 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 3.1.11.7 4
  • EC 3.1.12.2 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. Among its related pathways are DNA Damage. 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 (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).

Gene Wiki entry for APTX Gene

Additional gene information for APTX Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H032999 1.1 ENCODE 38.1 +23.7 23713 2 PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS DEK SP3 APTX DNAJA1 LAGE3P1 SMU1 TCEA1P4
GH09H033023 1.1 ENCODE 25.3 -0.3 -312 4 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 TOPORS SMU1 ENSG00000223440 ASS1P12 APTX DFFBP1 DDX58 B4GALT1 NOL6 LAGE3P1
GH09H033080 1.2 Ensembl ENCODE 22.8 -56.8 -56818 2 PKNOX1 FOXA2 ARID4B ZNF2 SLC30A9 ZNF143 ATF7 RUNX3 DEK REST APTX B4GALT1-AS1 B4GALT1 RNU4ATAC15P SPINK4 SMU1
GH09H033043 1.1 Ensembl ENCODE 24.8 -19.0 -18961 2 SIN3A RAD21 RFX5 YY1 GLIS2 ATF7 RUNX3 CREM ELF1 GLIS1 APTX SMU1 PIR52670 PIR42660
GH09H033472 1.4 ENCODE dbSUPER 18.6 -448.4 -448385 2 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF302 ZNF143 TOPORS NFX1 NOL6 SMU1 ASS1P12 TCEA1P4 ENSG00000228352 ENSG00000223440 DFFBP1 UBAP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000234328 -432 2401 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143

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 (PubMed:14755728, PubMed:15380105, PubMed:15044383, PubMed:16777843). Interacts with NCL (PubMed:15044383, PubMed:16777843). Interacts (via FHA-like domain) with MDC1 (phosphorylated) (PubMed:20008512).

    Three dimensional structures from OCA and Proteopedia for APTX Gene

    Alternative splice isoforms for APTX Gene

neXtProt entry for APTX Gene

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

Gene Families for APTX Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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.
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.
genes like me logo Genes that share domains with APTX: view

Function for APTX Gene

Molecular function for APTX Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=18 uM for AppppA {ECO:0000269 PubMed:16547001}; KM=837.5 uM for AMP-NH(2) {ECO:0000269 PubMed:16547001};
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine-5-diphospho-5-(DNA) + H(2)O = AMP + phospho-5-(DNA).
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine-5-diphospho-5-(ribonucleotide)-(DNA) + H(2)O = AMP + 5-phospho-(ribonucleotide)-(DNA).
UniProtKB/Swiss-Prot CatalyticActivity:
(DNA)-3-diphospho-5-guanosine + H(2)O = (DNA)-3-phosphate + GMP.
UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for APTX Gene

Phenotypes From GWAS Catalog for APTX Gene

Gene Ontology (GO) - Molecular Function for APTX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 15044383
GO:0003684 damaged DNA binding IDA 14755728
GO:0003690 double-stranded DNA binding 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

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for APTX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 (PubMed:15380105). Colocalizes with MDC1 at sites of DNA double-strand breaks (PubMed:20008512). Interaction with NCL is required for nucleolar localization (PubMed:16777843). {ECO:0000269 PubMed:15044383, ECO:0000269 PubMed:15380105, ECO:0000269 PubMed:20008512}.
Isoform 12: Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APTX gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (4)
  • Nucleus (4)
See all subcellular structures

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,IEA 15044383
GO:0005730 nucleolus IDA,IEA 15044383
genes like me logo Genes that share ontologies with APTX: view

Pathways & Interactions for APTX Gene

SuperPathway Contained pathways
1 DNA Damage
genes like me logo Genes that share pathways with APTX: view

Pathways by source for APTX Gene

1 Cell Signaling Technology pathway for APTX Gene

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:0000012 single strand break repair IDA 17519253
GO:0006266 DNA ligation IEA --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IMP 15044383
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with APTX: view

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:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for APTX
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for APTX Gene



Protein tissue co-expression partners for APTX Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of APTX Gene:

APTX

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; detected in liver, kidney and lymph node (at protein level) (PubMed:14755728). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level) (PubMed:14755728). Widely expressed; detected throughout the brain, in liver, kidney, skeletal muscle, fibroblasts, lymphocytes and pancreas (PubMed:15276230, PubMed:11586299, PubMed:11586300).

Evidence on tissue expression from TISSUES for APTX Gene

  • Nervous system(4.8)
  • Lung(4.3)
  • Intestine(4.2)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APTX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
Thorax:
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with APTX: view

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
chimpanzee
(Pan troglodytes)
Mammalia APTX 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia APTX 33 34
  • 92.94 (n)
cow
(Bos Taurus)
Mammalia APTX 33 34
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Aptx 33 16 34
  • 88.29 (n)
rat
(Rattus norvegicus)
Mammalia Aptx 33
  • 86.03 (n)
oppossum
(Monodelphis domestica)
Mammalia APTX 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APTX 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves APTX 33 34
  • 64.53 (n)
lizard
(Anolis carolinensis)
Reptilia APTX 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aptx 33
  • 63.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398657 33
zebrafish
(Danio rerio)
Actinopterygii aptx 33 34
  • 61.68 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6392 33
fruit fly
(Drosophila melanogaster)
Insecta CG5316 34
  • 11 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HNT3 34 36
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
OneToOne
Species where no ortholog for APTX was found in the sources mined by GeneCards:
  • 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
rs121908131 Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] 32,984,784(-) CTTAC(C/T)GTGGA intron-variant, nc-transcript-variant, reference, missense
rs121908132 Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] 32,974,544(-) TCATG(G/T)GATCA intron-variant, nc-transcript-variant, reference, missense
rs121908133 Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] 32,984,799(-) TTACC(A/G)TTGGC intron-variant, nc-transcript-variant, reference, missense
rs150886026 Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] 32,984,805(+) GGTAA(C/T)GGGCC intron-variant, nc-transcript-variant, reference, missense
rs267606665 Pathogenic, Ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920] 32,984,733(-) TGAAC(C/T)CCTTA intron-variant, nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv2670354 CNV deletion 23128226
esv3620303 CNV gain 21293372
esv3620313 CNV loss 21293372
nsv1025585 CNV gain 25217958
nsv438101 CNV loss 16468122
nsv614143 CNV gain 21841781
nsv6522 CNV insertion 18451855

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APTX

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

Disorders for APTX Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
  • spinocerebellar ataxia, autosomal recessive 1
aptx-related coenzyme q10 deficiency
  • coenzyme q10 deficiency, primary, 1
apraxia
  • dyspraxia
ocular motor apraxia
  • oculomotor apraxia cogan type
ataxia
- 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, ECO:0000269 PubMed:24362567}. 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 MC … Koenig M (Nature genetics 2001) 2 3 4 22 60
  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 (Nature genetics 2001) 2 3 4 22 60
  3. CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response. (PMID: 20008512) Becherel OJ … Lavin MF (Nucleic acids research 2010) 3 4 22 60
  4. Actions of aprataxin in multiple DNA repair pathways. (PMID: 17276982) Rass U … West SC (The Journal of biological chemistry 2007) 3 4 22 60
  5. Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription. (PMID: 16777843) Becherel OJ … Lavin MF (Human molecular genetics 2006) 3 4 22 60

Products for APTX Gene

Sources for APTX Gene

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