Pyruvate carboxylase

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==Disease==
==Disease==
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Mutations in the PC gene cause 3 types of clinical spectra. Type A and B are neonatal forms causing early death; type C causes mild intellectual delay<ref>PMID:30870574</ref> . Deregulation of PC expression is associated with type 2 diabetics and tumorgenesis in several cancers<ref>PMID:29362846</ref> .
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Mutations in the PC gene cause 3 types of clinical spectra. Type A and B are neonatal forms causing early death; type C causes mild intellectual delay<ref>PMID:30870574</ref>. Deregulation of PC expression is associated with type 2 diabetics and tumorgenesis in several cancers<ref>PMID:29362846</ref> .
==Structural highlights==
==Structural highlights==
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The 3D structure of PC shows its <scene name='93/939263/Cv/3'>4 domains: BC, CT, allosteric effector and BCCP</scene>. The <scene name='93/939263/Cv/4'>ATP moiety active site is in the BC domain and contains 2 Mg++ ions</scene>. The effector CoA is bound to the BC domain and the allosteric effector domain<ref>PMID:17717183</ref>.
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The 3D structure of PC shows its <scene name='93/939263/Cv/3'>4 domains: BC, CT, allosteric effector and BCCP</scene>.
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The <scene name='93/939263/Cv/7'>ATP moiety active site is in the BC domain and contains 2 Mg++ ions</scene>. Water molecules shown as red spheres. <scene name='93/939263/Cv/8'>Close up view of 2 Mg++ coordination sites</scene>.
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The <scene name='93/939263/Cv/9'>effector CoA is bound to the BC domain and the allosteric effector domain</scene><ref>PMID:17717183</ref>.
==3D structures of pyruvate carboxylase==
==3D structures of pyruvate carboxylase==

Current revision

Pyruvate carboxylase complex with CoA, ATP-gamma-S, glycerol, Mg++ (green), Zn++ (grey) Cl- (green) (PDB code 2qf7)

Drag the structure with the mouse to rotate

References

  1. ↑ Jitrapakdee S, St Maurice M, Rayment I, Cleland WW, Wallace JC, Attwood PV. Structure, mechanism and regulation of pyruvate carboxylase. Biochem J. 2008 Aug 1;413(3):369-87. doi: 10.1042/BJ20080709. PMID:18613815 doi:http://dx.doi.org/10.1042/BJ20080709
  2. ↑ Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot BL, Miller K, Vockley J, Sondheimer N, Ganetzky R, Freisinger P. Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation. Hum Mutat. 2019 Jun;40(6):816-827. doi: 10.1002/humu.23742. Epub 2019 Apr 13. PMID:30870574 doi:http://dx.doi.org/10.1002/humu.23742
  3. ↑ Lao-On U, Attwood PV, Jitrapakdee S. Roles of pyruvate carboxylase in human diseases: from diabetes to cancers and infection. J Mol Med (Berl). 2018 Apr;96(3-4):237-247. doi: 10.1007/s00109-018-1622-0. Epub , 2018 Jan 23. PMID:29362846 doi:http://dx.doi.org/10.1007/s00109-018-1622-0
  4. ↑ St Maurice M, Reinhardt L, Surinya KH, Attwood PV, Wallace JC, Cleland WW, Rayment I. Domain architecture of pyruvate carboxylase, a biotin-dependent multifunctional enzyme. Science. 2007 Aug 24;317(5841):1076-9. PMID:17717183 doi:317/5841/1076

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Alexander Berchansky, Michal Harel

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