3sht
From Proteopedia
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{{STRUCTURE_3sht| PDB=3sht | SCENE= }} | {{STRUCTURE_3sht| PDB=3sht | SCENE= }} | ||
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===Crystal structure of human MCPH1 tandem BRCT domains=== | ===Crystal structure of human MCPH1 tandem BRCT domains=== | ||
| + | {{ABSTRACT_PUBMED_22154951}} | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] Premature chromosome condensation with microcephaly and intellectual deficit;Autosomal recessive primary microcephaly. Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:[http://omim.org/entry/251200 251200]]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:16211557</ref> | ||
| - | + | ==Function== | |
| - | + | [[http://www.uniprot.org/uniprot/MCPH1_HUMAN MCPH1_HUMAN]] 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.<ref>PMID:12046007</ref> <ref>PMID:15199523</ref> <ref>PMID:15220350</ref> | |
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==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:022154951</ref><references group="xtra"/> | + | <ref group="xtra">PMID:022154951</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Li, F D.]] | [[Category: Li, F D.]] | ||
Revision as of 07:39, 20 June 2013
Contents |
Crystal structure of human MCPH1 tandem BRCT domains
Template:ABSTRACT PUBMED 22154951
Disease
[MCPH1_HUMAN] Premature chromosome condensation with microcephaly and intellectual deficit;Autosomal recessive primary microcephaly. Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:251200]; also known as true microcephaly or microcephaly vera. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.[1] [2] [3]
Function
[MCPH1_HUMAN] 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.[4] [5] [6]
About this Structure
3sht is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Shao Z, Li F, Sy SM, Yan W, Zhang Z, Gong D, Wen B, Huen MS, Gong Q, Wu J, Shi Y. Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure. J Struct Biol. 2011 Dec 1. PMID:22154951 doi:10.1016/j.jsb.2011.11.022
- ↑ 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. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002 Jul;71(1):136-42. Epub 2002 Jun 3. PMID:12046007 doi:10.1086/341283
- ↑ Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet. 2004 Aug;75(2):261-6. Epub 2004 Jun 15. PMID:15199523 doi:10.1086/422855
- ↑ Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H. The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat. 2005 Nov;26(5):496. PMID:16211557 doi:10.1002/humu.9382
- ↑ 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. Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet. 2002 Jul;71(1):136-42. Epub 2002 Jun 3. PMID:12046007 doi:10.1086/341283
- ↑ Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet. 2004 Aug;75(2):261-6. Epub 2004 Jun 15. PMID:15199523 doi:10.1086/422855
- ↑ Xu X, Lee J, Stern DF. Microcephalin is a DNA damage response protein involved in regulation of CHK1 and BRCA1. J Biol Chem. 2004 Aug 13;279(33):34091-4. Epub 2004 Jun 25. PMID:15220350 doi:10.1074/jbc.C400139200
