6q8z: Difference between revisions

Latest revision as of 11:55, 24 January 2024

Structure of human galactokinase 1 bound with N-(Cyclobutylmethyl)-1,5-dimethyl-1H-pyrazole-4-carboxamide

Structural highlights

6q8z is a 4 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 2.4Å
Ligands:	GAL, HFK, HR5
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

GALK1_HUMAN Defects in GALK1 are the cause of galactosemia II (GALCT2) [MIM:230200. Galactosemia II is an autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.^[1] ^[2] ^[3] ^[4] ^[5] ^[6]

Function

GALK1_HUMAN Major enzyme for galactose metabolism.

References

↑ Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. PMID:10521295 doi:S0002-9297(07)62136-3
↑ Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-53. PMID:10790206 doi:<447::AID-HUMU6>3.0.CO;2-M 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M
↑ Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. Am J Hum Genet. 2001 Apr;68(4):1036-42. Epub 2001 Feb 23. PMID:11231902 doi:S0002-9297(07)61428-1
↑ Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L. Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat. 2001;17(1):77-8. PMID:11139256 doi:<77::AID-HUMU20>3.0.CO;2-H 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H
↑ Timson DJ, Reece RJ. Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem. 2003 Apr;270(8):1767-74. PMID:12694189
↑ Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. PMID:15024738 doi:10.1002/humu.9223

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OCA

[1] Kalaydjieva L, Perez-Lezaun A, Angelicheva D, Onengut S, Dye D, Bosshard NU, Jordanova A, Savov A, Yanakiev P, Kremensky I, Radeva B, Hallmayer J, Markov A, Nedkova V, Tournev I, Aneva L, Gitzelmann R. A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet. 1999 Nov;65(5):1299-307. PMID:10521295 doi:S0002-9297(07)62136-3

[2] Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L, Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D. Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat. 2000;15(5):447-53. PMID:10790206 doi:<447::AID-HUMU6>3.0.CO;2-M 10.1002/(SICI)1098-1004(200005)15:5<447::AID-HUMU6>3.0.CO;2-M

[3] Okano Y, Asada M, Fujimoto A, Ohtake A, Murayama K, Hsiao KJ, Choeh K, Yang Y, Cao Q, Reichardt JK, Niihira S, Imamura T, Yamano T. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians. Am J Hum Genet. 2001 Apr;68(4):1036-42. Epub 2001 Feb 23. PMID:11231902 doi:S0002-9297(07)61428-1

[4] Hunter M, Angelicheva D, Levy HL, Pueschel SM, Kalaydjieva L. Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat. 2001;17(1):77-8. PMID:11139256 doi:<77::AID-HUMU20>3.0.CO;2-H 10.1002/1098-1004(2001)17:1<77::AID-HUMU20>3.0.CO;2-H

[5] Timson DJ, Reece RJ. Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem. 2003 Apr;270(8):1767-74. PMID:12694189

[6] Sangiuolo F, Magnani M, Stambolian D, Novelli G. Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat. 2004 Apr;23(4):396. PMID:15024738 doi:10.1002/humu.9223

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@@ Line 1: / Line 1: @@
-'''Unreleased structure'''
-The entry 6q8z is ON HOLD
+==Structure of human galactokinase 1 bound with N-(Cyclobutylmethyl)-1,5-dimethyl-1H-pyrazole-4-carboxamide==
+<StructureSection load='6q8z' size='340' side='right'caption='[[6q8z]], [[Resolution|resolution]] 2.40&Aring;' scene=''>
+== Structural highlights ==
+<table><tr><td colspan='2'>[[6q8z]] is a 4 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=6Q8Z OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=6Q8Z FirstGlance]. <br>
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.4&#8491;</td></tr>
+<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=GAL:BETA-D-GALACTOSE'>GAL</scene>, <scene name='pdbligand=HFK:2-(1,3-benzoxazol-2-ylamino)spiro[1,6,7,8-tetrahydroquinazoline-4,1-cyclohexane]-5-one'>HFK</scene>, <scene name='pdbligand=HR5:~{N}-(cyclobutylmethyl)-1,5-dimethyl-pyrazole-4-carboxamide'>HR5</scene></td></tr>
+<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6q8z FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6q8z OCA], [https://pdbe.org/6q8z PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6q8z RCSB], [https://www.ebi.ac.uk/pdbsum/6q8z PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6q8z ProSAT]</span></td></tr>
+</table>
+== Disease ==
+[https://www.uniprot.org/uniprot/GALK1_HUMAN GALK1_HUMAN] Defects in GALK1 are the cause of galactosemia II (GALCT2) [MIM:[https://omim.org/entry/230200 230200]. Galactosemia II is an autosomal recessive deficiency characterized by congenital cataracts during infancy and presenile cataracts in the adult population. The cataracts are secondary to accumulation of galactitol in the lenses.<ref>PMID:10521295</ref> <ref>PMID:10790206</ref> <ref>PMID:11231902</ref> <ref>PMID:11139256</ref> <ref>PMID:12694189</ref> <ref>PMID:15024738</ref>
+== Function ==
+[https://www.uniprot.org/uniprot/GALK1_HUMAN GALK1_HUMAN] Major enzyme for galactose metabolism.
-Authors: Mackinnon, S.R., Bezerra, G.A., Zhang, M., Foster, W., Krojer, T., Brandao-Neto, J., Douangamath, A., Arrowsmith, C., Edwards, A., Bountra, C., Brennan, P., Lai, K., Yue, W.W.
+==See Also==
+*[[Galactokinase|Galactokinase]]
-Description: Structure of human galactokinase 1 bound with N-(Cyclobutylmethyl)-1,5-dimethyl-1H-pyrazole-4-carboxamide
+== References ==
-[[Category: Unreleased Structures]]
+<references/>
-[[Category: Foster, W]]
+__TOC__
-[[Category: Brandao-Neto, J]]
+</StructureSection>
-[[Category: Lai, K]]
+[[Category: Homo sapiens]]
-[[Category: Bezerra, G.A]]
+[[Category: Large Structures]]
-[[Category: Yue, W.W]]
+[[Category: Arrowsmith C]]
-[[Category: Arrowsmith, C]]
+[[Category: Bezerra GA]]
-[[Category: Zhang, M]]
+[[Category: Bountra C]]
-[[Category: Edwards, A]]
+[[Category: Brandao-Neto J]]
-[[Category: Douangamath, A]]
+[[Category: Brennan P]]
-[[Category: Mackinnon, S.R]]
+[[Category: Douangamath A]]
-[[Category: Krojer, T]]
+[[Category: Edwards A]]
-[[Category: Brennan, P]]
+[[Category: Foster W]]
-[[Category: Bountra, C]]
+[[Category: Krojer T]]
+[[Category: Lai K]]
+[[Category: Mackinnon SR]]
+[[Category: Yue WW]]
+[[Category: Zhang M]]

6q8z: Difference between revisions

Latest revision as of 11:55, 24 January 2024

Structure of human galactokinase 1 bound with N-(Cyclobutylmethyl)-1,5-dimethyl-1H-pyrazole-4-carboxamide

Structural highlights

Disease

Function

See Also

References

Contents

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