Spermidine/Spermine N1-Acetyltransferase 1 (SAT1)

DC21; KFSD; SAT; SSAT; SSAT-1; Diamine Acetyltransferase 1; Polyamine N-acetyltransferase 1; Putrescine acetyltransferase

SPN	P949
HGNC	10540
MGI	98233
PubMed	15474295
RGD	1586174
UniProt	P21673
Wiki	SAT1

SAT1 belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). All species below vertebrates had 1 copy of SSAT, whereas most all vertebrate species had functional SAT1 and SAT2 genes, with the exception of chicken and Xenopus. Northern blot and EST analysis indicated that SAT1 was expressed at higher levels than SAT2 and in a wider range of tissues. Whereas SAT1 showed a much greater preference for spermidine than spermine, SAT2 showed similar preference for the 2 polyamines.

Reference

"Isolation and characterization of a cDNA clone that codes for human spermidine/spermine N1-acetyltransferase."
J. Biol. Chem. 266:810-814(1991) [PubMed] [Europe PMC] [Abstract]

"Characterization of a full-length cDNA which codes for the human spermidine/spermine N1-acetyltransferase."
Biochem. Biophys. Res. Commun. 179:407-415(1991) [PubMed] [Europe PMC] [Abstract]

"Structure of the human spermidine/spermine N1-acetyltransferase gene (exon/intron gene organization and localization to Xp22.1)."
Biochem. Biophys. Res. Commun. 187:1493-1502(1992) [PubMed] [Europe PMC] [Abstract]

"Differential transcription of the human spermidine/spermine N1-acetyltransferase (SSAT) gene in human lung carcinoma cells."
Biochem. J. 313:691-696(1996) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"High specific induction of spermidine/spermine N1-acetyltransferase in a human large cell lung carcinoma."
Biochem. J. 270:615-620(1990) [PubMed] [Europe PMC] [Abstract]

"Structures of wild-type and mutant human spermidine/spermine N1-acetyltransferase, a potential therapeutic drug target."
Proc. Natl. Acad. Sci. U.S.A. 103:2063-2068(2006) [PubMed] [Europe PMC] [Abstract]

"Mechanistic and structural analysis of human spermidine/spermine N1-acetyltransferase."
Biochemistry 46:7187-7195(2007) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of human spermidine/spermine N1-acetyltransferase (hSSAT): the first structure of a new sequence family of transferase homologous superfamily."
Proteins 63:1127-1131(2006) [PubMed] [Europe PMC] [Abstract]

"Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity."
Hum. Genet. 100:520-524(1997) [PubMed] [Europe PMC] [Abstract]

"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. 111:235-241(2002) [PubMed] [Europe PMC] [Abstract]