SAT1 gene

spermidine/spermine N1-acetyltransferase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From UniProt:

Overexpression of SAT1 and the consequent putrescine accumulation might play a role in the pathogenesis of keratosis follicularis spinulosa decalvans.

Cytogenetic Location: Xp22.11, which is the short (p) arm of the X chromosome at position 22.11

Molecular Location: base pairs 23,783,158 to 23,786,223 on the X chromosome (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: Xp22.11, which is the short (p) arm of the X chromosome at position 22.11
  • DC21
  • KFSD
  • KFSDX
  • SAT
  • SSAT
  • SSAT-1