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FANCM Antibody

  • 货号：
    CSB-PA008422GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8IYD8
  • 基因名：
    FANCM
  • 别名：
    FANCM antibody; KIAA1596Fanconi anemia group M protein antibody; Protein FACM antibody; EC 3.6.4.13 antibody; ATP-dependent RNA helicase FANCM antibody; Fanconi anemia-associated polypeptide of 250 kDa antibody; FAAP250 antibody; Protein Hef ortholog antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human FANCM
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates. Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX. In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates. In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA.
  • 基因功能参考文献：
    1. Our study of the Polish and Ukrainian populations has identified a carrier frequency of truncating mutations in FANCM and breast cancer susceptibility. PMID: 29351780
    2. FANCM expression is a prognostic factor for overall survival in luminal B breast cancer in Chinese patients. PMID: 29388117
    3. Loss-of-function mutations in FANCM cause a cancer predisposition syndrome clinically distinct from bona fide FA. Care should be taken with chemotherapy and radiation treatments in these patients due to expected acute toxicity. PMID: 28837157
    4. Our data indicate that biallelic FANCM mutations do not cause classical FA, providing proof that FANCM is not a canonical FA gene. FANCM is a breast cancer-predisposing gene. Mutation testing of FANCM might be considered for individuals with the above-described clinical features. PMID: 28837162
    5. Two FANCM truncating mutations, the c.1432C>T (p.Arg478Ter) and c.1972C>T (p.Arg658Ter), were identified in two Male Breast Cancer cases (0.7%). When specifically considering cases at increased genetic risk for BC, FANCM mutation frequency raises up to 1%. Rare FANCM truncating mutations, other than c.5101C>T and c.5791C>T, may have a role in MBC susceptibility. PMID: 29287190
    6. Mutation in FANCM gene is associated with non-syndromic primary ovarian insufficiency. PMID: 29231814
    7. These results support the role of FANCM as a breast cancer susceptibility gene, particularly for triple-negative breast cancer. PMID: 28702895
    8. FANCM is actively recruited to the alternative lengthening of telomeres that are experiencing replication stress. PMID: 28673972
    9. we demonstrated that FANCM is a direct target of miR146a PMID: 27351285
    10. This case-control study included 2047 BRCA1 and BRCA2-negative familial breast cancer cases and 2187 controls and revealed an association of FANCM mutations with breast cancer. More pronounced associations were identified for early-onset (before age 51 years) breast cancer and triple-negative breast cancer. PMID: 28033443
    11. FANCM c.5101C > T nonsense mutation carriers have a reduced breast cancer survival but postoperative radiotherapy may diminish this survival disadvantage. PMID: 27542569
    12. we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer. PMID: 26130695
    13. FANCM c.5101C>T mutation was not identified in Pakistani triple-negative breast cancer patients PMID: 26067930
    14. MHF facilitates the processing of multiple types of branched DNAs by the DNA translocase FANCM. MHF complex recognizes branched DNA and stimulates FANCM activity at such a structure to promote genome maintenance. PMID: 24390579
    15. FANCM is a breast cancer susceptibility gene, mutations in which confer a particularly strong predisposition for triple-negative breast cancer PMID: 25288723
    16. The MHF complex, which is a heterotetramer that comprises two MHF1-MHF2 heterodimers, is remodeled by FANCM to favor recognition of branched DNA over dsDNA. PMID: 24699063
    17. The FANCM translocase domain lies in proximity to C-terminal domain and binding fork DNA structures stimulate its ATPase activity. PMID: 23932590
    18. The traverse frequency was strongly reduced by inactivation of the translocase and DNA binding activities of the FANCM/MHF complex. PMID: 24207054
    19. Variations of several key residues and the electrostatic property at the active-site region render a catalytically inactive nuclease domain of FANCM, accounting for the lack of nuclease activity. PMID: 24003026
    20. Genotoxic stress-induced FANCM phosphorylation is ATR-dependent. PMID: 23698467
    21. FANCM participates in recombination-independent interstrand crosslink repair by facilitating recruitment of lesion incision activities, which requires its translocase activity PMID: 23333308
    22. we genetically characterized a conserved yeast ICL repair pathway composed of the yeast homologs (Mph1, Chl1, Mhf1, Mhf2) of four FA proteins (FANCM, FANCJ, MHF1, MHF2 PMID: 22696213
    23. cells expressing translocase-defective FANCM show altered global replication dynamics due to increased accumulation of stalled forks that subsequently degenerate into DNA double-strand breaks, leading to ATM activation and homologous recombination repair PMID: 22279085
    24. MHF1 and MHF2 form a compact tetramer to which FANCM-F binds through a 'dual-V' shaped structure. PMID: 22510687
    25. analysis of the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome PMID: 22392978
    26. human MutS homologs and FANCM complexes function as redundant DNA damage sensors of the Fanconi Anemia pathway PMID: 21975120
    27. FANCM/FAAP24 plays a role in ICL-induced checkpoint activation through regulating RPA recruiment at ICL-stalled replication forks. PMID: 20670894
    28. show that FANCM forms a conserved DNA-remodeling complex with a histone-fold heterodimer, MHF. PMID: 20347428
    29. provide biochemical evidence that MHF1 and MHF2 assemble into a heterodimer that binds DNA and enhances the DNA branch migration activity of FANCM. PMID: 20347429
    30. signalling through the checkpoint effector kinase Chk1 prevents FANCM from degradation by the proteasome after exposure to DNA damage PMID: 20010692
    31. FANCM (mutated in the human cancer predisposition syndrome, Fanconi's anaemia (FA)) co-ordinately regulates checkpoint signalling and replication fork progression. PMID: 20160754
    32. Data show that FANCM links Fanconi anemia and Bloom's syndrome by acting as a protein anchor and bridge that targets key components of the FA and BS pathways to stalled replication forks, linking components that are necessary for DNA repair. PMID: 20064461
    33. FANCM is an anchor required for recruitment of the FA core complex to chromatin, and the FANCM/FAAP24 interaction is essential for this chromatin-loading activity PMID: 18174376
    34. FANCM specifically binds to Holliday junctions & replication forks & promotes ATPase-dependent migration of their junction point. It dissociates large recombination intermediates by branch migration of Holliday junctions through 2.6 kb of DNA. PMID: 18206976
    35. These data are consistent with participation of FANCM and its associated FA core complex in the FA pathway at both signaling through monoubiquitination and the ensuing DNA repair. PMID: 18285517
    36. DNA damage recognition and remodeling activities of FANCM and FAAP24 cooperate to promote efficient activation of DNA damage checkpoints in Fanconi anemia. PMID: 18995830
    37. FANCM is hyperphosphorylated and degraded during mitosis and beta-transducin repeat-containing protein and Polo-like kinase 1 are the key regulators of FANCM degradation. PMID: 19270156
    38. unlike cells defective in other core complex members, FANCM(-/-) cells were proficient in monoubiquitinating FANCD2 PMID: 19423727
    39. results rule out a major role of FANCM in familial breast cancer susceptibility PMID: 19737859

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  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    DEAD box helicase family, DEAH subfamily, FANCM sub-subfamily
  • 组织特异性：
    Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last trimester of pregnancy
  • 数据库链接：

    HGNC: 23168

    OMIM: 609644

    KEGG: hsa:57697

    STRING: 9606.ENSP00000267430

    UniGene: Hs.509229