SAT1

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]

Full Name

Spermidine/Spermine N1-Acetyltransferase 1

Function

Enzyme which catalyzes the acetylation of polyamines (PubMed:15283699, PubMed:16455797, PubMed:17516632).
Substrate specificity: norspermidine = spermidine>> spermine> N1-acetylspermine (PubMed:17516632).
This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines (PubMed:16455797).
Also involved in the regulation of polyamine transport out of cells (PubMed:16455797).
Also acts on 1,3-diaminopropane and 1,5-diaminopentane (PubMed:16455797, PubMed:17516632).

Biological Process

Biological Process angiogenesisManual Assertion Based On ExperimentIEP:UniProtKB
Biological Process polyamine biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process putrescine catabolic processIEA:UniProtKB-UniPathway
Biological Process spermidine acetylationManual Assertion Based On ExperimentIDA:UniProtKB

Cellular Location

Cytoplasm, cytosol

Involvement in disease

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