1zlg

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[[Image:1zlg.png|left|200px]]
 
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{{STRUCTURE_1zlg| PDB=1zlg | SCENE= }}
{{STRUCTURE_1zlg| PDB=1zlg | SCENE= }}
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===Solution structure of the extracellular matrix protein anosmin-1===
===Solution structure of the extracellular matrix protein anosmin-1===
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{{ABSTRACT_PUBMED_15949815}}
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{{ABSTRACT_PUBMED_15949815}}
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==Disease==
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[[http://www.uniprot.org/uniprot/KALM_HUMAN KALM_HUMAN]] Defects in KAL1 are the cause of hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:[http://omim.org/entry/308700 308700]]. A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).<ref>PMID:19696444</ref><ref>PMID:8504298</ref><ref>PMID:8989261</ref><ref>PMID:9589672</ref><ref>PMID:11297579</ref><ref>PMID:15471890</ref><ref>PMID:15001591</ref><ref>PMID:15605412</ref><ref>PMID:17054399</ref><ref>PMID:17223984</ref><ref>PMID:17213338</ref><ref>PMID:21168128</ref><ref>PMID:20530987</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/KALM_HUMAN KALM_HUMAN]] Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.<ref>PMID:19696444</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:015949815</ref><references group="xtra"/>
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<ref group="xtra">PMID:015949815</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Bouloux, P M.]]
[[Category: Bouloux, P M.]]

Revision as of 19:13, 24 March 2013

Template:STRUCTURE 1zlg

Contents

Solution structure of the extracellular matrix protein anosmin-1

Template:ABSTRACT PUBMED 15949815

Disease

[KALM_HUMAN] Defects in KAL1 are the cause of hypogonadotropic hypogonadism 1 with or without anosmia (HH1) [MIM:308700]. A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).[1][2][3][4][5][6][7][8][9][10][11][12][13]

Function

[KALM_HUMAN] Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.[14]

About this Structure

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

Reference

  • Hu Y, Sun Z, Eaton JT, Bouloux PM, Perkins SJ. Extended and flexible domain solution structure of the extracellular matrix protein anosmin-1 by X-ray scattering, analytical ultracentrifugation and constrained modelling. J Mol Biol. 2005 Jul 15;350(3):553-70. PMID:15949815 doi:http://dx.doi.org/10.1016/j.jmb.2005.04.031
  1. ↑ Hu Y, Guimond SE, Travers P, Cadman S, Hohenester E, Turnbull JE, Kim SH, Bouloux PM. Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1. J Biol Chem. 2009 Oct 23;284(43):29905-20. doi: 10.1074/jbc.M109.049155. Epub, 2009 Aug 20. PMID:19696444 doi:10.1074/jbc.M109.049155
  2. ↑ Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet. 1993 Apr;2(4):373-7. PMID:8504298
  3. ↑ Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF Jr, Vallejo M. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab. 1997 Jan;82(1):213-7. PMID:8989261
  4. ↑ Maya-Nunez G, Zenteno JC, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez JP. A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome. J Clin Endocrinol Metab. 1998 May;83(5):1650-3. PMID:9589672
  5. ↑ Oliveira LM, Seminara SB, Beranova M, Hayes FJ, Valkenburgh SB, Schipani E, Costa EM, Latronico AC, Crowley WF Jr, Vallejo M. The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J Clin Endocrinol Metab. 2001 Apr;86(4):1532-8. PMID:11297579
  6. ↑ Cariboni A, Pimpinelli F, Colamarino S, Zaninetti R, Piccolella M, Rumio C, Piva F, Rugarli EI, Maggi R. The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons. Hum Mol Genet. 2004 Nov 15;13(22):2781-91. Epub 2004 Oct 7. PMID:15471890 doi:10.1093/hmg/ddh309
  7. ↑ Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88. PMID:15001591
  8. ↑ Albuisson J, Pecheux C, Carel JC, Lacombe D, Leheup B, Lapuzina P, Bouchard P, Legius E, Matthijs G, Wasniewska M, Delpech M, Young J, Hardelin JP, Dode C. Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2). Hum Mutat. 2005 Jan;25(1):98-9. PMID:15605412 doi:10.1002/humu.9298
  9. ↑ Dode C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet. 2006 Oct 20;2(10):e175. Epub 2006 Sep 1. PMID:17054399 doi:06-PLGE-RA-0108R3
  10. ↑ Versiani BR, Trarbach E, Koenigkam-Santos M, Dos Santos AC, Elias LL, Moreira AC, Latronico AC, de Castro M. Clinical assessment and molecular analysis of GnRHR and KAL1 genes in males with idiopathic hypogonadotrophic hypogonadism. Clin Endocrinol (Oxf). 2007 Feb;66(2):173-9. PMID:17223984 doi:10.1111/j.1365-2265.2006.02702.x
  11. ↑ Bhagavath B, Xu N, Ozata M, Rosenfield RL, Bick DP, Sherins RJ, Layman LC. KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. Mol Hum Reprod. 2007 Mar;13(3):165-70. Epub 2007 Jan 9. PMID:17213338 doi:gal108
  12. ↑ Zhang S, Wang T, Yang J, Liu Z, Wang S, Liu J. A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene. Fertil Steril. 2011 Apr;95(5):1789.e3-6. doi: 10.1016/j.fertnstert.2010.11.045., Epub 2010 Dec 18. PMID:21168128 doi:10.1016/j.fertnstert.2010.11.045
  13. ↑ Jap TS, Chiu CY, Lirng JF, Won GS. Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome. J Endocrinol Invest. 2011 Jan;34(1):53-9. doi: 10.3275/7103. Epub 2010 Jun 4. PMID:20530987 doi:10.3275/7103
  14. ↑ Hu Y, Guimond SE, Travers P, Cadman S, Hohenester E, Turnbull JE, Kim SH, Bouloux PM. Novel mechanisms of fibroblast growth factor receptor 1 regulation by extracellular matrix protein anosmin-1. J Biol Chem. 2009 Oct 23;284(43):29905-20. doi: 10.1074/jbc.M109.049155. Epub, 2009 Aug 20. PMID:19696444 doi:10.1074/jbc.M109.049155

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