1zbq: Difference between revisions

Latest revision as of 07:07, 23 August 2023

Crystal Structure Of Human 17-Beta-Hydroxysteroid Dehydrogenase Type 4 In Complex With NAD

Structural highlights

1zbq is a 6 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 2.19Å
Ligands:	NAD
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

DHB4_HUMAN Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD) [MIM:261515. DBPD is a disorder of peroxisomal fatty acid beta-oxidation.^[1] ^[2] ^[3] Defects in HSD17B4 are the cause of Perrault syndrome (PRLTS1) [MIM:233400. A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.^[4]

Function

DHB4_HUMAN Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.^[5] ^[6]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. PMID:9482850
↑ van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ. Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. Hum Mol Genet. 1999 Aug;8(8):1509-16. PMID:10400999
↑ Nakano K, Zhang Z, Shimozawa N, Kondo N, Ishii N, Funatsuka M, Shirakawa S, Itoh M, Takashima S, Une M, Kana-aki RR, Mukai K, Osawa M, Suzuki Y. D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. J Pediatr. 2001 Dec;139(6):865-7. PMID:11743515 doi:10.1067/mpd.2001.119170
↑ Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub, 2010 Jul 30. PMID:20673864 doi:10.1016/j.ajhg.2010.07.007
↑ Jiang LL, Miyazawa S, Souri M, Hashimoto T. Structure of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. J Biochem. 1997 Feb;121(2):364-9. PMID:9089413
↑ Jiang LL, Kobayashi A, Matsuura H, Fukushima H, Hashimoto T. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. J Biochem. 1996 Sep;120(3):624-32. PMID:8902629

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OCA

[1] van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci U S A. 1998 Mar 3;95(5):2128-33. PMID:9482850

[2] van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ. Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency. Hum Mol Genet. 1999 Aug;8(8):1509-16. PMID:10400999

[3] Nakano K, Zhang Z, Shimozawa N, Kondo N, Ishii N, Funatsuka M, Shirakawa S, Itoh M, Takashima S, Une M, Kana-aki RR, Mukai K, Osawa M, Suzuki Y. D-bifunctional protein deficiency with fetal ascites, polyhydramnios, and contractures of hands and toes. J Pediatr. 2001 Dec;139(6):865-7. PMID:11743515 doi:10.1067/mpd.2001.119170

[4] Pierce SB, Walsh T, Chisholm KM, Lee MK, Thornton AM, Fiumara A, Opitz JM, Levy-Lahad E, Klevit RE, King MC. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet. 2010 Aug 13;87(2):282-8. doi: 10.1016/j.ajhg.2010.07.007. Epub, 2010 Jul 30. PMID:20673864 doi:10.1016/j.ajhg.2010.07.007

[5] Jiang LL, Miyazawa S, Souri M, Hashimoto T. Structure of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein. J Biochem. 1997 Feb;121(2):364-9. PMID:9089413

[6] Jiang LL, Kobayashi A, Matsuura H, Fukushima H, Hashimoto T. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. J Biochem. 1996 Sep;120(3):624-32. PMID:8902629

[1]

[2]

[3]

[4]

[5]

[6]

@@ Line 3: / Line 3: @@
 <StructureSection load='1zbq' size='340' side='right'caption='[[1zbq]], [[Resolution|resolution]] 2.19&Aring;' scene=''>
 == Structural highlights ==
-<table><tr><td colspan='2'>[[1zbq]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1ZBQ OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=1ZBQ FirstGlance]. <br>
+<table><tr><td colspan='2'>[[1zbq]] is a 6 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=1ZBQ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1ZBQ FirstGlance]. <br>
-</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=NAD:NICOTINAMIDE-ADENINE-DINUCLEOTIDE'>NAD</scene></td></tr>
+</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2.19&#8491;</td></tr>
-<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">HSD17B4, EDH17B4 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>
+<tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat" id="ligandDat"><scene name='pdbligand=NAD:NICOTINAMIDE-ADENINE-DINUCLEOTIDE'>NAD</scene></td></tr>
-<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/3-hydroxyacyl-CoA_dehydrogenase 3-hydroxyacyl-CoA dehydrogenase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=1.1.1.35 1.1.1.35] </span></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=1zbq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1zbq OCA], [https://pdbe.org/1zbq PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1zbq RCSB], [https://www.ebi.ac.uk/pdbsum/1zbq PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1zbq ProSAT]</span></td></tr>
-<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=1zbq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1zbq OCA], [http://pdbe.org/1zbq PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1zbq RCSB], [http://www.ebi.ac.uk/pdbsum/1zbq PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1zbq ProSAT]</span></td></tr>
 </table>
 == Disease ==
-[[http://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN]] Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD) [MIM:[http://omim.org/entry/261515 261515]]. DBPD is a disorder of peroxisomal fatty acid beta-oxidation.<ref>PMID:9482850</ref> <ref>PMID:10400999</ref> <ref>PMID:11743515</ref>   Defects in HSD17B4 are the cause of Perrault syndrome (PRLTS1) [MIM:[http://omim.org/entry/233400 233400]]. A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.<ref>PMID:20673864</ref>
+[https://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN] Defects in HSD17B4 are a cause of D-bifunctional protein deficiency (DBPD) [MIM:[https://omim.org/entry/261515 261515]. DBPD is a disorder of peroxisomal fatty acid beta-oxidation.<ref>PMID:9482850</ref> <ref>PMID:10400999</ref> <ref>PMID:11743515</ref>   Defects in HSD17B4 are the cause of Perrault syndrome (PRLTS1) [MIM:[https://omim.org/entry/233400 233400]. A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.<ref>PMID:20673864</ref>
 == Function ==
-[[http://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN]] Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.<ref>PMID:9089413</ref> <ref>PMID:8902629</ref>
+[https://www.uniprot.org/uniprot/DHB4_HUMAN DHB4_HUMAN] Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.<ref>PMID:9089413</ref> <ref>PMID:8902629</ref>
 == Evolutionary Conservation ==
 [[Image:Consurf_key_small.gif|200px|right]]
@@ Line 31: / Line 30: @@
 __TOC__
 </StructureSection>
-[[Category: 3-hydroxyacyl-CoA dehydrogenase]]
+[[Category: Homo sapiens]]
-[[Category: Human]]
 [[Category: Large Structures]]
-[[Category: Arrowsmith, C]]
+[[Category: Arrowsmith C]]
-[[Category: Bray, J]]
+[[Category: Bray J]]
-[[Category: Delft, F von]]
+[[Category: Edwards A]]
-[[Category: Edwards, A]]
+[[Category: Kavanagh K]]
-[[Category: Kavanagh, K]]
+[[Category: Lukacik P]]
-[[Category: Lukacik, P]]
+[[Category: Oppermann U]]
-[[Category: Oppermann, U]]
+[[Category: Shafqat N]]
-[[Category: Structural genomic]]
+[[Category: Sundstrom M]]
-[[Category: Shafqat, N]]
+[[Category: Von Delft F]]
-[[Category: Sundstrom, M]]
-[[Category: Hydroxysteroid dehydrogenase]]
-[[Category: Oxidoreductase]]
-[[Category: Peroxisomal beta-oxidation]]
-[[Category: Sgc]]
-[[Category: Short-chain dehydrogenase]]

1zbq: Difference between revisions

Latest revision as of 07:07, 23 August 2023

Crystal Structure Of Human 17-Beta-Hydroxysteroid Dehydrogenase Type 4 In Complex With NAD

Structural highlights

Disease

Function

Evolutionary Conservation

See Also

References

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