Description: Homo sapiens aprataxin (APTX), transcript variant 6, mRNA. RefSeq Summary (NM_001195248): 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]. Transcript (Including UTRs) Position: hg19 chr9:32,972,604-33,001,639 Size: 29,036 Total Exon Count: 8 Strand: - Coding Region Position: hg19 chr9:32,973,496-33,001,602 Size: 28,107 Coding Exon Count: 8
ID:APTX_HUMAN DESCRIPTION: RecName: Full=Aprataxin; EC=3.-.-.-; AltName: Full=Forkhead-associated domain histidine triad-like protein; Short=FHA-HIT; 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. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=18 uM for AppppA; KM=837.5 uM for AMP-NH(2); SUBUNIT: Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL. Interacts (via FHA- like domain) with MDC1 (phosphorylated). INTERACTION: P09874:PARP1; NbExp=7; IntAct=EBI-847814, EBI-355676; P18887:XRCC1; NbExp=8; IntAct=EBI-847814, EBI-947466; SUBCELLULAR LOCATION: 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. SUBCELLULAR LOCATION: Isoform 12: Cytoplasm. 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. DOMAIN: The histidine triad, also called HIT motif, forms part of the binding loop for the alpha-phosphate of purine mononucleotide (By similarity). DOMAIN: The FHA-like domain mediates interaction with NCL; XRCC1 and XRCC4. DOMAIN: The HIT domain is required for enzymatic activity. DOMAIN: The C2H2-type zinc finger mediates DNA-binding. DISEASE: Defects in APTX are the cause of ataxia-oculomotor apraxia syndrome (AOA) [MIM:208920]. AOA is an autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy. SIMILARITY: Contains 1 C2H2-type zinc finger. SIMILARITY: Contains 1 FHA-like domain. SIMILARITY: Contains 1 HIT domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APTX";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7Z2E3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
