3pa6: Difference between revisions

Latest revision as of 13:30, 1 March 2024

Structure of the N-terminal BRCT domain of human microcephalin (MCPH1)

Structural highlights

3pa6 is a 3 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Method:	X-ray diffraction, Resolution 1.5Å
Ligands:	CL, MSE
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

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]

References

↑ 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

Proteopedia Page Contributors and Editors (what is this?)

OCA

[1] 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

[2] 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

[3] 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

[4] 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

[5] 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

[6] 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

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[2]

[3]

[4]

[5]

[6]

@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
-The entry 3pa6 is ON HOLD
+==Structure of the N-terminal BRCT domain of human microcephalin (MCPH1)==
+<StructureSection load='3pa6' size='340' side='right'caption='[[3pa6]], [[Resolution|resolution]] 1.50&Aring;' scene=''>
-Authors: Singh, N., Heroux, A., Thompson, J.R., Mer, G.
+== Structural highlights ==
+<table><tr><td colspan='2'>[[3pa6]] is a 3 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3PA6 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=3PA6 FirstGlance]. <br>
-Description: Structure of the N-terminal BRCT domain of human microcephalin (MCPH1)
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 1.5&#8491;</td></tr>
+<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=CL:CHLORIDE+ION'>CL</scene>, <scene name='pdbligand=MSE:SELENOMETHIONINE'>MSE</scene></td></tr>
-''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Nov  3 10:06:44 2010''
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=3pa6 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3pa6 OCA], [https://pdbe.org/3pa6 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=3pa6 RCSB], [https://www.ebi.ac.uk/pdbsum/3pa6 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=3pa6 ProSAT]</span></td></tr>
+</table>
+== Disease ==
+[https://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:[https://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 ==
+[https://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>
+== References ==
+<references/>
+__TOC__
+</StructureSection>
+[[Category: Homo sapiens]]
+[[Category: Large Structures]]
+[[Category: Heroux A]]
+[[Category: Mer G]]
+[[Category: Singh N]]
+[[Category: Thompson JR]]

3pa6: Difference between revisions

Latest revision as of 13:30, 1 March 2024

Structure of the N-terminal BRCT domain of human microcephalin (MCPH1)

Structural highlights

Disease

Function

References

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