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MCPH1 Antibody

  • 货号：
    CSB-PA060156
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q8NEM0
  • 基因名：
    MCPH1
  • 别名：
    BRCT repeat inhibitor of TERT expression 1 antibody; BRIT 1 antibody; FLJ12847 antibody; Hypothetical protein FLJ12847 antibody; MCPH 1 antibody; MCPH1 antibody; MCPH1_HUMAN antibody; MCT antibody; Microcephalin 1 antibody; Microcephalin antibody; Microcephaly primary autosomal recessive 1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from the N-terminal region of Human Microcephalin.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, IHC, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    ELISA 1:40000
  • 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：
    Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.
  • 基因功能参考文献：
    1. Tumor suppressor functions of MCPH1/BRIT1 and BRCA1; links with the inactivation of the functional form of hTERT and the activation of dominant negative splice variants of hTERT. PMID: 29860064
    2. MCPH1 interacts with and promotes the E3 ligase betaTrCP2 to degrade Cdc25A independent of DNA damage. Overexpression of betaTrCP2 or the knockdown of Cdc25A remedies the high mitotic index and rescues the premature differentiation of Mcph1-deficient neuroprogenitors in vivo MCPH1 itself is degraded by APC/CCdh1, but not APC/CCdc20, in late mitosis and G1 phase. PMID: 29150431
    3. Candidate tumor suppressor gene MCPH1 is mutated in colorectal and gastric cancers. PMID: 27718016
    4. Characterization of the effects of MCPH1 loss-of-function on chromosome morphology. PMID: 25845520
    5. These findings collectively provide strong evidence for MCHP1 being a novel breast cancer susceptibility gene, which warrants further investigations in other populations. PMID: 26820313
    6. Data indicate splice-acceptor site homozygous mutation in intron 4 of microcephalin (MCPH1) gene in 2 children. PMID: 26192461
    7. in addition to its role in brain development, MCPH1 also functions as a tumor suppressor gene and is directly regulated by miR-27a. PMID: 25197360
    8. SNTB1 and MCPH1 are located on chromosome 8, which may be involved in neuroticism, avoidant personality and depression. PMID: 24975899
    9. Phosphorylation of BRIT1 protein coordinates TopBP1 protein recruitment and amplifies ATR signaling in cell DNA damage. PMID: 25301947
    10. MCPH1 has an important role in regulating cell growth through regulating the cell cycle and apoptosis PMID: 24633962
    11. This study identified MCPH1 significantly associated loci with a biologically plausible role in schizophrenia. PMID: 24507884
    12. microcephalin and ASPM expression are deregulated in epithelial ovarian cancer progression PMID: 24830737
    13. Low MCPH1 protein expression is associated with lung tumorigenesis. PMID: 24460291
    14. Reduced protein expression of MCPH1 is associated with breast carcinoma. PMID: 23117476
    15. Polymorphism in MCPH1 gene is associated with pancreatic cancer. PMID: 23908141
    16. BRIT1 regulates p53 stability and functions as a tumor suppressor in breast cancer. PMID: 23729656
    17. in addition to its role in brain development, MCPH1 also functions as a tumor suppressor gene and is regulated by miR-27a PMID: 23472065
    18. The divergence of MCPH1 protein sequences under Darwinian positive selection led to functional modifications, providing a possible molecular mechanism of how MCPH1 contributed to brain enlargement during primate evolution and human origin. PMID: 23697381
    19. MCPH1 also functions as a tumor suppressor in oral squamous cell carcinoma PMID: 23472065
    20. The MCPH1 polymorphisms and protein expression were associated with tumorigenesis in breast cancer PMID: 23296058
    21. MCPH1 encodes different isoforms that are differentially regulated at the transcript level and have different functions at the protein level PMID: 22952573
    22. MCPH1 recruitment to sites of DNA damage is linked to both states of histone H2A.X. PMID: 22908299
    23. the crystal structures of MCPH1 natural variant (A761) C-terminal tandem BRCT domains alone as well as in complex with gammaH2AX tail PMID: 22154951
    24. The MCPH1 promoter region was sequenced in human, chimpanzee and rhesus macaque; sequence comparison of vertebrate species suggested that the identified E2F1 binding motif is primate specific. PMID: 22136275
    25. It was shown that MCPH1 directly binds to the promoter of human telomerase reverse transcriptase and represses telomerase activity. An intact N terminal BRCT domain was essential for the proper inhibiting function of MCPH1. PMID: 22240313
    26. the biochemical, structural, and cellular determinants of the novel interaction between MCPH1 and Cdc27 and suggest that this interaction may occur within the larger context of MCPH1-APC/C. PMID: 22139841
    27. MCPH1 expression is downregulated in blood cells of CML patients compared to control subjects; this downregulation is independent of BCR/ABL. CML cells exhibit defective G2/M arrest; data confirm role of MCPH1 as regulator of G2/M checkpoint. PMID: 21934293
    28. these findings show that genetic variants in the microcephalin 1 locus are suggestively associated with the risk of epirubicin-induced adverse drug reactions. PMID: 21799462
    29. MCPH1 regulates chromosome condensation and shaping as a composite modulator of condensin II PMID: 21911480
    30. Microcephalin is an independent predictor of breast cancer-specific survival in invasive ductal breast cancer patients and may prove to be a useful biomarker for the identification of aggressive breast cancers PMID: 20632086
    31. SET is an important regulator of chromosome condensation/decondensation and disruption of the MCPH1-SET interaction might be important for the pathogenesis of primary microcephaly PMID: 21515671
    32. Results indicate that the DNA damage response in human cells with truncating MCPH1 mutations differs significantly from the damage responses in cells of certain model organisms and in cells depleted of MCPH1 by RNAi. PMID: 21150325
    33. The first study of MCPH1 in a large cohort of non-consanguineous patients with microcephaly, is reported. PMID: 20949544
    34. Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation PMID: 20101680
    35. Compared with other BRCT domain structures, the most striking differences are an elongated, ordered beta1-alpha1 loop and an adjacent hydrophobic pocket. PMID: 19925808
    36. discuss our current findings and future perspectives about how BRIT1/MCPH1, a human disease gene, specifies the function of chromatin remodelers and links chromatin remodeling to genome maintenance.[review] PMID: 19829069
    37. Identification of microcephalin, a protein implicated in determining the size of the human brain, which is mapped to the MCPH1 locus and is mutated in primary microcephaly. PMID: 12046007
    38. microcephalin and ASPM determine the size of the human brain PMID: 12571366
    39. Mcph1 is involved in DNA damage-induced cellular responses and may have a role in regulation of Brca1 and/or Chk1 PMID: 15220350
    40. findings show that one genetic variant of Microcephalin in modern humans, which arose approximately 37,000 years ago, increased in frequency too rapidly to be compatible with neutral drift; this indicates that it has spread under strong positive selection PMID: 16151009
    41. Data suggest that the microcephaly observed in patients with MCPH1 deficiencies is due to disruption of the ATR-BRCA1-Chk1 signaling pathway that is also disrupted in Seckel syndrome patients. PMID: 16217032
    42. The study found no evidence that the selected alleles of MCPH1 and ASPM were associated with increases or decreases in brain volume. PMID: 16687438
    43. We conclude that MCPH1 has a function downstream of Chk1 in the ATR-signalling pathway. PMID: 16783362
    44. BRIT1 is a crucial DNA damage regulator in the ATM/ATR pathways and suggest that it functions as a tumor suppressor gene PMID: 16872911
    45. review: MCPH1 functions in the ATR-dependent DNA damage response pathway. Additionally, MCPH1 has a function in the regulation of mitotic entry that is ATR-independent PMID: 17102619
    46. Studies using 2393 subjects do not support a detectable association between the recent adaptive evolution of either ASPM or Microcephalin and changes in IQ. PMID: 17220170
    47. no relationship was found between polymorphisms of brain regulator gene Microcephalin Microcephalin and any general mental ability, head circumference and social intelligence PMID: 17251122
    48. phenotypes other than brain size may have been selected for in ASPM and MCPH1 variants during evolution of modern humans. PMID: 17566767
    49. MCPH1 functions in an H2AX-dependent but MDC1-independent pathway in response to DNA damage PMID: 17925396
    50. A non-synonymous SNP (rs1057090, V761A in BRCA1 C-terminus (BRCT) domain) of MCPH1 other than the two known tag SNPs is significantly associated with cranial volume in Chinese males. PMID: 18204051

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  • 相关疾病：
    Microcephaly 1, primary, autosomal recessive (MCPH1)
  • 亚细胞定位：
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
  • 组织特异性：
    Expressed in fetal brain, liver and kidney.
  • 数据库链接：

    HGNC: 6954

    OMIM: 251200

    KEGG: hsa:79648

    STRING: 9606.ENSP00000342924

    UniGene: Hs.593807