2b3v
Spermine spermidine acetyltransferase in complex with acetylcoa, K26R mutantSpermine spermidine acetyltransferase in complex with acetylcoa, K26R mutant
Template:ABSTRACT PUBMED 16455797
DiseaseDisease
[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]
FunctionFunction
[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 StructureAbout this Structure
2b3v is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ 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
- ↑ 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
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCA- Diamine N-acetyltransferase
- Homo sapiens
- Bewley, M C.
- Burley, S K.
- Coleman, C S.
- Flanagan, J M.
- Graziano, V.
- Jiang, J S.
- Matz, E.
- NYSGXRC, New York SGX Research Center for Structural Genomics.
- Pegg, A P.
- Studier, F W.
- New york sgx research center for structural genomic
- Nysgxrc
- Polyamine
- Protein structure initiative
- Psi
- Structural genomic
- Transferase