2p39

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[[Image:2p39.png|left|200px]]
 
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{{STRUCTURE_2p39| PDB=2p39 | SCENE= }}
{{STRUCTURE_2p39| PDB=2p39 | SCENE= }}
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===Crystal structure of human FGF23===
===Crystal structure of human FGF23===
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{{ABSTRACT_PUBMED_17339340}}
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{{ABSTRACT_PUBMED_17339340}}
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==Disease==
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[[http://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN]] Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:[http://omim.org/entry/193100 193100]]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.<ref>PMID:11062477</ref><ref>PMID:11409890</ref><ref>PMID:16638743</ref> Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:[http://omim.org/entry/211900 211900]]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.<ref>PMID:15590700</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/FGF23_HUMAN FGF23_HUMAN]] Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.<ref>PMID:11062477</ref><ref>PMID:11409890</ref><ref>PMID:15040831</ref><ref>PMID:16597617</ref><ref>PMID:18282132</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:017339340</ref><references group="xtra"/>
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<ref group="xtra">PMID:017339340</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Mohammadi, M.]]
[[Category: Mohammadi, M.]]
[[Category: Atypical beta-trefoil fold]]
[[Category: Atypical beta-trefoil fold]]
[[Category: Signaling protein]]
[[Category: Signaling protein]]

Revision as of 22:31, 24 March 2013

Template:STRUCTURE 2p39

Contents

Crystal structure of human FGF23

Template:ABSTRACT PUBMED 17339340

Disease

[FGF23_HUMAN] Defects in FGF23 are the cause of autosomal dominant hypophosphataemic rickets (ADHR) [MIM:193100]. ADHR is characterized by low serum phosphorus concentrations, rickets, osteomalacia, leg deformities, short stature, bone pain and dental abscesses.[1][2][3] Defects in FGF23 are a cause of hyperphosphatemic familial tumoral calcinosis (HFTC) [MIM:211900]. HFTC is a severe autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues.[4]

Function

[FGF23_HUMAN] Regulator of phosphate homeostasis. Inhibits renal tubular phosphate transport by reducing SLC34A1 levels. Upregulates EGR1 expression in the presence of KL (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism. Negatively regulates osteoblast differentiation and matrix mineralization.[5][6][7][8][9]

About this Structure

2p39 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Goetz R, Beenken A, Ibrahimi OA, Kalinina J, Olsen SK, Eliseenkova AV, Xu C, Neubert TA, Zhang F, Linhardt RJ, Yu X, White KE, Inagaki T, Kliewer SA, Yamamoto M, Kurosu H, Ogawa Y, Kuro-o M, Lanske B, Razzaque MS, Mohammadi M. Molecular insights into the klotho-dependent, endocrine mode of action of fibroblast growth factor 19 subfamily members. Mol Cell Biol. 2007 May;27(9):3417-28. Epub 2007 Mar 5. PMID:17339340 doi:10.1128/MCB.02249-06
  1. ↑ . Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8. PMID:11062477 doi:10.1038/81664
  2. ↑ Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun. 2001 Jun 22;284(4):977-81. PMID:11409890 doi:10.1006/bbrc.2001.5084
  3. ↑ Kato K, Jeanneau C, Tarp MA, Benet-Pages A, Lorenz-Depiereux B, Bennett EP, Mandel U, Strom TM, Clausen H. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem. 2006 Jul 7;281(27):18370-7. Epub 2006 Apr 25. PMID:16638743 doi:10.1074/jbc.M602469200
  4. ↑ Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet. 2005 Feb 1;14(3):385-90. Epub 2004 Dec 8. PMID:15590700 doi:10.1093/hmg/ddi034
  5. ↑ . Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000 Nov;26(3):345-8. PMID:11062477 doi:10.1038/81664
  6. ↑ Bowe AE, Finnegan R, Jan de Beur SM, Cho J, Levine MA, Kumar R, Schiavi SC. FGF-23 inhibits renal tubular phosphate transport and is a PHEX substrate. Biochem Biophys Res Commun. 2001 Jun 22;284(4):977-81. PMID:11409890 doi:10.1006/bbrc.2001.5084
  7. ↑ Shimada T, Hasegawa H, Yamazaki Y, Muto T, Hino R, Takeuchi Y, Fujita T, Nakahara K, Fukumoto S, Yamashita T. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res. 2004 Mar;19(3):429-35. Epub 2003 Dec 29. PMID:15040831 doi:10.1359/JBMR.0301264
  8. ↑ Zhang X, Ibrahimi OA, Olsen SK, Umemori H, Mohammadi M, Ornitz DM. Receptor specificity of the fibroblast growth factor family. The complete mammalian FGF family. J Biol Chem. 2006 Jun 9;281(23):15694-700. Epub 2006 Apr 4. PMID:16597617 doi:10.1074/jbc.M601252200
  9. ↑ Wang H, Yoshiko Y, Yamamoto R, Minamizaki T, Kozai K, Tanne K, Aubin JE, Maeda N. Overexpression of fibroblast growth factor 23 suppresses osteoblast differentiation and matrix mineralization in vitro. J Bone Miner Res. 2008 Jun;23(6):939-48. doi: 10.1359/jbmr.080220. PMID:18282132 doi:10.1359/jbmr.080220

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