2b4b

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[[Image:2b4b.png|left|200px]]
 
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{{STRUCTURE_2b4b| PDB=2b4b | SCENE= }}
{{STRUCTURE_2b4b| PDB=2b4b | SCENE= }}
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===SSAT+COA+BE-3-3-3, K6R mutant===
===SSAT+COA+BE-3-3-3, K6R mutant===
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{{ABSTRACT_PUBMED_16455797}}
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{{ABSTRACT_PUBMED_16455797}}
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==Disease==
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[[http://www.uniprot.org/uniprot/SAT1_HUMAN SAT1_HUMAN]] Defects in SAT1 may be a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:[http://omim.org/entry/308800 308800]]. A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.<ref>PMID:9341865</ref><ref>PMID:12215835</ref>
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==Function==
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[[http://www.uniprot.org/uniprot/SAT1_HUMAN SAT1_HUMAN]] Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine.
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:016455797</ref><ref group="xtra">PMID:017516632</ref><references group="xtra"/>
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<ref group="xtra">PMID:016455797</ref><ref group="xtra">PMID:017516632</ref><references group="xtra"/><references/>
[[Category: Diamine N-acetyltransferase]]
[[Category: Diamine N-acetyltransferase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]

Revision as of 23:25, 24 March 2013

Template:STRUCTURE 2b4b

Contents

SSAT+COA+BE-3-3-3, K6R mutant

Template:ABSTRACT PUBMED 16455797

Disease

[SAT1_HUMAN] Defects in SAT1 may be a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]. A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration.[1][2]

Function

[SAT1_HUMAN] Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine.

About this Structure

2b4b is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Bewley MC, Graziano V, Jiang J, Matz E, Studier FW, Pegg AE, Coleman CS, Flanagan JM. Structures of wild-type and mutant human spermidine/spermine N1-acetyltransferase, a potential therapeutic drug target. Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2063-8. Epub 2006 Feb 2. PMID:16455797
  • Hegde SS, Chandler J, Vetting MW, Yu M, Blanchard JS. Mechanistic and structural analysis of human spermidine/spermine N1-acetyltransferase. Biochemistry. 2007 Jun 19;46(24):7187-95. Epub 2007 May 22. PMID:17516632 doi:10.1021/bi700256z
  1. ↑ Oosterwijk JC, Richard G, van der Wielen MJ, van de Vosse E, Harth W, Sandkuijl LA, Bakker E, van Ommen GJ. Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. Hum Genet. 1997 Oct;100(5-6):520-4. PMID:9341865
  2. ↑ Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M. Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet. 2002 Sep;111(3):235-41. Epub 2002 Aug 1. PMID:12215835 doi:10.1007/s00439-002-0791-6

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