cd17736

second BRCT domain of microcephalin and similar proteins

CDD entry
Member databaseCDD
CDD typedomain
Short nameBRCT_microcephalin_rpt2
SetBRCT

Description

Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. It has been implicated in chromosome condensation and DNA damage induced cellular responses. It may play a role in neurogenesis and regulation of the size of the cerebral cortex. Microcephalin contains three BRCT repeats. This family corresponds to the second repeat.
[2, 3, 9, 5, 10, 4, 8, 7, 6, 1]

References

1.A common SNP of MCPH1 is associated with cranial volume variation in Chinese population. Wang JK, Li Y, Su B. Hum Mol Genet 17, 1329-35, (2008). PMID: 18204051

2.Identification of microcephalin, a protein implicated in determining the size of the human brain. Jackson AP, Eastwood H, Bell SM, Adu J, Toomes C, Carr IM, Roberts E, Hampshire DJ, Crow YJ, Mighell AJ, Karbani G, Jafri H, Rashid Y, Mueller RF, Markham AF, Woods CG. Am. J. Hum. Genet. 71, 136-42, (2002). View articlePMID: 12046007

3.Mutations in microcephalin cause aberrant regulation of chromosome condensation. Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Am. J. Hum. Genet. 75, 261-6, (2004). View articlePMID: 15199523

4.Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex. Singh N, Wiltshire TD, Thompson JR, Mer G, Couch FJ. J Biol Chem 287, 2854-62, (2012). PMID: 22139841

5.Microcephalin encodes a centrosomal protein. Zhong X, Pfeifer GP, Xu X. Cell Cycle 5, 457-8, (2006). PMID: 16479174

6.The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H. Hum Mutat 26, 496, (2005). PMID: 16211557

7.Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1. Singh N, Basnet H, Wiltshire TD, Mohammad DH, Thompson JR, Heroux A, Botuyan MV, Yaffe MB, Couch FJ, Rosenfeld MG, Mer G. Proc Natl Acad Sci U S A 109, 14381-6, (2012). PMID: 22908299

8.Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure. Shao Z, Li F, Sy SM, Yan W, Zhang Z, Gong D, Wen B, Huen MS, Gong Q, Wu J, Shi Y. J. Struct. Biol. 177, 459-68, (2012). PMID: 22154951

9.Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. Xu X, Lee J, Stern DF. J. Biol. Chem. 279, 34091-4, (2004). View articlePMID: 15220350

10.A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation. Richards MW, Leung JW, Roe SM, Li K, Chen J, Bayliss R. J. Mol. Biol. 395, 908-15, (2010). View articlePMID: 19925808

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