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  4. Recombinant Human Aprataxin (APTX)

Recombinant Human Aprataxin (APTX)

  • 货号：
    CSB-YP001955HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 货号：
    CSB-EP001955HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 货号：
    CSB-EP001955HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 货号：
    CSB-BP001955HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 货号：
    CSB-MP001955HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    APTX
  • Uniprot No.：
  • 别名：
    AOA 1; AOA; AOA1; Aprataxin; Aprataxin homolog; Aptx; APTX_HUMAN; Ataxia 1 early onset with hypoalbuminemia; Ataxia1 early onset with hypoalbuminemia; AXA 1; AXA1; EAOH; EOAHA; FHA HIT; FHA-HIT; FLJ20157; Forkhead associated domain histidine triad like; Forkhead associated domain histidine triad like protein; Forkhead-associated domain histidine triad-like protein; MGC1072
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    full length protein
  • 表达区域：
    1-356
  • 氨基酸序列
    MSNVNLSVSD FWRVMMRVCW LVRQDSRHQR IRLPHLEAVV IGRGPETKIT DKKCSRQQVQ LKAECNKGYV KVKQVGVNPT SIDSVVIGKD QEVKLQPGQV LHMVNELYPY IVEFEEEAKN PGLETHRKRK RSGNSDSIER DAAQEAEAGT GLEPGSNSGQ CSVPLKKGKD APIKKESLGH WSQGLKISMQ DPKMQVYKDE QVVVIKDKYP KARYHWLVLP WTSISSLKAV AREHLELLKH MHTVGEKVIV DFAGSSKLRF RLGYHAIPSM SHVHLHVISQ DFDSPCLKNK KHWNSFNTEY FLESQAVIEM VQEAGRVTVR DGMPELLKLP LRCHECQQLL PSIPQLKEHL RKHWTQ
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 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. Likewise, catalyzes the release of 3'-linked guanosine (DNAppG) and inosine (DNAppI) from DNA, but has higher specific activity with 5'-linked adenosine (AppDNA).
  • 基因功能参考文献：
    1. we demonstrated that miR-424 regulated radiosensitivity by directly targeting aprataxin. PMID: 27769049
    2. Whole-exome sequencing on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype. PMID: 28652255
    3. Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4). PMID: 27470939
    4. Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. PMID: 25976310
    5. Herein, we survey APTX function and the emerging cell biological, structural and biochemical data that has established a molecular foundation for understanding the APTX mediated deadenylation reaction. [review] PMID: 25637650
    6. We describe an ataxia with oculomotor apraxia type 1 patient without a severe phenotype, who has a homozygous deletion of the complete coding region of APTX. PMID: 26285866
    7. TDP1 and APTX take part in the mitochondrial DNA repair and are apparently being transported from the cell nucleus. (Review) PMID: 24161509
    8. Structure-function studies of human APTX-RNA-DNA-AMP-Zn complexes define a mechanism for detecting and reversing adenylation at RNA-DNA junctions PMID: 24362567
    9. Data suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie aprataxin dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (AOA1). PMID: 21984210
    10. The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits. PMID: 21465257
    11. Aprataxin is required for the normal repair rate of DNA single-strand breaks induced by genotoxic agents. PMID: 21412945
    12. The patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation(APTX) show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation. PMID: 21486904
    13. Aprataxin localizes to mitochondria and preserves mitochondrial function. PMID: 21502511
    14. Loss of HNT3 in rad27Delta cells, which are deficient in long-patch base excision repair (LP-BER), resulted in synergistic sensitivity to H(2)O(2) and methylmethane sulfonate. PMID: 20399152
    15. searched for aprataxin mutations in Greek patients with sporadic cerebellar ataxia where GAA expansion in frataxin gene has been excluded; no detectable point mutation or deletion was found in the aprataxin gene of all the patients PMID: 19953284
    16. High aprataxin levels are associated with low irinotecan response in colorectal cancer. PMID: 20371676
    17. Data demonstrate the presence of elevated levels of oxidative DNA damage in AOA1 cells coupled with reduced base excision and gap filling repair efficiencies indicative of a synergy between aprataxin, PARP-1, APE-1 and OGG1 in the DNA damage response. PMID: 19643912
    18. Data show that the RASGRP1/APTX gene expression ratio was higher in the responder while the AKAP13 expression was higher in the non-responders. PMID: 19960345
    19. The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. PMID: 12629250
    20. A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T. PMID: 14534929
    21. aprataxin influences the cellular response to genotoxic stress. PMID: 15044383
    22. This study screened a group of 165 early onset ataxia patients for APTX mutations and detected two non-related patients homozygous for the W293X nonsense mutation. PMID: 15164193
    23. Two novel mutations were identified, the complete deletion of the gene, which seems to not correlate with an increased severity of the disease, and a splice mutation on the acceptor splice site of exon 7 (875-1G>A (IVS7-1 G>A). PMID: 15365154
    24. Aprataxin is physically associated with both the DNA single-strand and double-strand break repair machinery, raising the possibility that AOA1 is a novel DNA damage response-defective disease. PMID: 15380105
    25. determined the domains of APTX and XRCC1 required for their interaction; findings suggest that APTX, together with XRCC1 and PARP-1, plays an essential role in single-strand DNA break repair PMID: 15555565
    26. A novel homozygous missense mutation (H201Q) was found in one Italian patient. PMID: 15596775
    27. Aprataxin was shown to be involved directly in the DNA single-strand-break repair machinery. PMID: 15719174
    28. the essential function of Aprataxin is reversal of nucleotidylylated protein modifications; all three domains contribute to formation of a stable enzyme, and the in vitro behavior of cloned APTX alleles can score disease-associated mutations PMID: 15790557
    29. Aprataxin has a role in the cellular response to DNA damage PMID: 16547001
    30. cross-dependence between aprataxin and nucleolin in the nucleolus PMID: 16777843
    31. 2 patients whose clinical features resembled those of multiple system atrophy of the cerebellar subtype (MSA-C) but without ocular motor apraxia and hypoalbuminemia. Each had a different nucleotide transition in the APTX gene. PMID: 17049295
    32. Aprataxin is critical for the processing of obstructive DNA termini. PMID: 17240329
    33. May have a general proofreading function in DNA repair, removing DNA adenylates as they arise during single-strand break repair, double-strand break repair, and in base excision repair. PMID: 17276982
    34. All of the disease-associated apprataxin mutants had extremely shorter half-lives than the WT. We further found that these mutants were targeted for rapid proteasome-mediated degradation PMID: 17485165
    35. Aprataxin repairs DNA single-strand breaks with a unique substrate specificity toward damaged 3'-ends including 3'-phosphoglycolate and 3'-phosphate ends, and that disease-associated mutant forms of aprataxin lack this activity. PMID: 17519253
    36. Expression studies by Western blotting on fibroblasts demonstrated that the homozygous Val230Gly mutation was associated with decreased levels of APTX indicating a loss-of-function mechanism. PMID: 17572444
    37. We report a patient with homozygous deletion of APTX, who presented with behavioural changes (social withdrawal), and subsequent rapid progression of neurological symptoms associated with severe cognitive decline. PMID: 18202221
    38. APTX is the first protein to adopt canonical histidine triad-type reaction chemistry for the repair of DNA PMID: 18836178
    39. that short-patch single-strand break repair (SSBR) in AOA1 cell extracts bypasses the point of aprataxin action at oxidative breaks and stalls at the final step of DNA ligation, resulting in the accumulation of adenylated DNA nicks PMID: 19103743
    40. Protein kinase C gamma, a causative for spinocerebellar ataxia, negatively regulates nuclear import of aprataxin. PMID: 19561170

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  • 相关疾病：
    Ataxia-oculomotor apraxia syndrome (AOA)
  • 亚细胞定位：
    Nucleus, nucleoplasm. Nucleus, nucleolus.; [Isoform 12]: Cytoplasm.
  • 组织特异性：
    Widely expressed; detected in liver, kidney and lymph node (at protein level). Isoform 1 is highly expressed in the cerebral cortex and cerebellum, compared to isoform 2 (at protein level). Widely expressed; detected throughout the brain, in liver, kidney
  • 数据库链接：

    HGNC: 15984

    OMIM: 208920

    KEGG: hsa:54840

    STRING: 9606.ENSP00000369141

    UniGene: Hs.20158