Property Summary

NCBI Gene PubMed Count 108
Grant Count 17
R01 Count 15
Funding $1,357,784.33
PubMed Score 106.08
PubTator Score 96.43

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytic glioma -1.100 0.039
osteosarcoma -1.802 0.000
glioblastoma 1.100 0.000
sonic hedgehog group medulloblastoma 1.700 0.000
medulloblastoma, large-cell 1.200 0.000
primitive neuroectodermal tumor 1.100 0.012
lung cancer 1.500 0.001
atypical teratoid/rhabdoid tumor 1.100 0.000
ovarian cancer -1.300 0.000

Gene RIF (70)

PMID Text
26820313 These findings collectively provide strong evidence for MCHP1 being a novel breast cancer susceptibility gene, which warrants further investigations in other populations.
26683461 Results show that in addition to the scaffolding function in complex formation, BRUCE has an E3 ligase function to promote BRIT1 deubiquitination by USP8 leading to accumulation of BRIT1 at DNA double-strand break.
26192461 Data indicate splice-acceptor site homozygous mutation in intron 4 of microcephalin (MCPH1) gene in 2 children.
25845520 Characterization of the effects of MCPH1 loss-of-function on chromosome morphology.
25733871 BRUCE acts as a scaffold, bridging the ubiquitin-specific peptidase 8 (USP8) and BRIT1 in a complex to coordinate USP8-catalyzed deubiquitination of BRIT1.
25301947 Phosphorylation of BRIT1 protein coordinates TopBP1 protein recruitment and amplifies ATR signaling in cell DNA damage.
25197360 in addition to its role in brain development, MCPH1 also functions as a tumor suppressor gene and is directly regulated by miR-27a.
24975899 SNTB1 and MCPH1 are located on chromosome 8, which may be involved in neuroticism, avoidant personality and depression.
24830737 microcephalin and ASPM expression are deregulated in epithelial ovarian cancer progression
24633962 MCPH1 has an important role in regulating cell growth through regulating the cell cycle and apoptosis
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AA Sequence

MAAPILKDVVAYVEVWSSNGTENYSKTFTTQLVDMGAKVSKTFNKQVTHVIFKDGYQSTWDKAQKRGVKL      1 - 70
VSVLWVEKCRTAGAHIDESLFPAANMNEHLSSLIKKKRKCMQPKDFNFKTPENDKRFQKKFEKMAKELQR     71 - 140
QKTNLDDDVPILLFESNGSLIYTPTIEINSRHHSAMEKRLQEMKEKRENLSPTSSQMIQQSHDNPSNSLC    141 - 210
EAPLNISRDTLCSDEYFAGGLHSSFDDLCGNSGCGNQERKLEGSINDIKSDVCISSLVLKANNIHSSPSF    211 - 280
THLDKSSPQKFLSNLSKEEINLQRNIAGKVVTPDQKQAAGMSQETFEEKYRLSPTLSSTKGHLLIHSRPR    281 - 350
SSSVKRKRVSHGSHSPPKEKCKRKRSTRRSIMPRLQLCRSEDRLQHVAGPALEALSCGESSYDDYFSPDN    351 - 420
LKERYSENLPPESQLPSSPAQLSCRSLSKKERTSIFEMSDFSCVGKKTRTVDITNFTAKTISSPRKTGNG    421 - 490
EGRATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLTPLEGSLEEMKEAVGLKS    491 - 560
TQNKGTTSKISNSSEGEAQSEHEPCFIVDCNMETSTEEKENLPGGYSGSVKNRPTRHDVLDDSCDGFKDL    561 - 630
IKPHEELKKSGRGKKPTRTLVMTSMPSEKQNVVIQVVDKLKGFSIAPDVCETTTHVLSGKPLRTLNVLLG    631 - 700
IARGCWVLSYDWVLWSLELGHWISEEPFELSHHFPAAPLCRSECHLSAGPYRGTLFADQPVMFVSPASSP    701 - 770
PVAKLCELVHLCGGRVSQVPRQASIVIGPYSGKKKATVKYLSEKWVLDSITQHKVCAPENYLLSQ         771 - 835
//

Text Mined References (111)

PMID Year Title
26912502 2016 The Impact of rs3762271 and rs930557 Polymorphisms of ASPM and MCPH1 Genes on the Anatomy and Function of the Brain.
26870219 2016 Overexpression of MCPH1 inhibits uncontrolled cell growth by promoting cell apoptosis and arresting the cell cycle in S and G2/M phase in lung cancer cells.
26820313 2016 Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1 Associating with Hereditary Breast Cancer Susceptibility.
26683461 2015 The UBC Domain Is Required for BRUCE to Promote BRIT1/MCPH1 Function in DSB Signaling and Repair Post Formation of BRUCE-USP8-BRIT1 Complex.
26651848 2016 High-Density Genetic Mapping Identifies New Susceptibility Variants in Sarcoidosis Phenotypes and Shows Genomic-driven Phenotypic Differences.
26626498 2016 Refining the phenotype associated with CASC5 mutation.
26205471 2016 Expression of proteins involved in DNA damage response in familial and sporadic breast cancer patients.
26192461 2015 A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.
26165835 2016 Opposing effects of pericentrin and microcephalin on the pericentriolar material regulate CHK1 activation in the DNA damage response.
25951892 2015 Molecular genetics of human primary microcephaly: an overview.
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