Diamine Acetyltransferase 1 (SAT1) Human Recombinant Protein

The protein encoded by this gene 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). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]

SAT: 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. Defects in SAT1 may be a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX). 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. Belongs to the acetyltransferase family.

Protein type: EC 2.3.1.57; Acetyltransferase; Amino Acid Metabolism - arginine and proline

Chromosomal Location of Human Ortholog: Xp22.1

Cellular Component: cytosol; intracellular

Molecular Function: diamine N-acetyltransferase activity; protein binding

Biological Process: angiogenesis; polyamine biosynthetic process; polyamine metabolic process; putrescine catabolic process; regulation of cell proliferation

Disease: Keratosis Follicularis Spinulosa Decalvans, X-linked