Recombinant Human Fanconi anemia group M protein (FANCM), partial

Code CSB-YP810301HU
MSDS
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Source Yeast
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Code CSB-EP810301HU
MSDS
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Source E.coli
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Code CSB-EP810301HU-B
MSDS
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Source E.coli
Conjugate 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.
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Code CSB-BP810301HU
MSDS
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Source Baculovirus
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Code CSB-MP810301HU
MSDS
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Source Mammalian cell
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
FANCM
Uniprot No.
Alternative Names
FANCM; KIAA1596Fanconi anemia group M protein; Protein FACM; EC 3.6.4.13; ATP-dependent RNA helicase FANCM; Fanconi anemia-associated polypeptide of 250 kDa; FAAP250; Protein Hef ortholog
Species
Homo sapiens (Human)
Protein Length
Partial
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

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Target Background

Function
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.
Gene References into Functions
  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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Subcellular Location
Nucleus.
Protein Families
DEAD box helicase family, DEAH subfamily, FANCM sub-subfamily
Tissue Specificity
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
Database Links

HGNC: 23168

OMIM: 609644

KEGG: hsa:57697

STRING: 9606.ENSP00000267430

UniGene: Hs.509229

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