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功能
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.
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组织特异性
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.
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疾病相关
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.
Defects in APTX are a cause of coenzyme Q10 deficiency (COQ10D) [MIM:607426]. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy.
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序列相似性
Contains 1 C2H2-type zinc finger.
Contains 1 FHA-like domain.
Contains 1 HIT domain.
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结构域
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.
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细胞定位
Nucleus > nucleoplasm. Nucleus > nucleolus. 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.
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Information by UniProt
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数据库链接
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别名
- AOA 1 antibody
- AOA antibody
- AOA1 antibody
- Aprataxin antibody
- Aprataxin homolog antibody
- Aptx antibody
- APTX_HUMAN antibody
- Ataxia 1 early onset with hypoalbuminemia antibody
- Ataxia1 early onset with hypoalbuminemia antibody
- AXA 1 antibody
- AXA1 antibody
- EAOH antibody
- EOAHA antibody
- FHA HIT antibody
- FHA-HIT antibody
- FLJ20157 antibody
- Forkhead associated domain histidine triad like antibody
- Forkhead associated domain histidine triad like protein antibody
- Forkhead-associated domain histidine triad-like protein antibody
- MGC1072 antibody
see all