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MGP002749

UniProt Annotations

Entry Information
Gene Namespermidine/spermine N1-acetyltransferase 1
Protein EntrySAT1_HUMAN
UniProt IDP21673
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=3.8 uM for acetyl-coenzyme A {ECO:0000269|PubMed:17516632}; KM=5.7 uM for spermine {ECO:0000269|PubMed:17516632}; KM=22 uM for spermidine {ECO:0000269|PubMed:17516632}; pH dependence: Optimum pH is 8.0. {ECO:0000269|PubMed:17516632};
Catalytic ActivityAcetyl-CoA + an alkane-alpha,omega-diamine = CoA + an N-acetyldiamine.
DiseaseKeratosis 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. {ECO:0000269|PubMed:12215835, ECO:0000269|PubMed:9341865}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
FunctionEnzyme 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.
InteractionP17482:HOXB9; NbExp=3; IntAct=EBI-711613, EBI-745290; Q9BQ70:TCF25; NbExp=4; IntAct=EBI-711613, EBI-745182;
PathwayAmine and polyamine degradation; putrescine degradation; N-acetylputrescine from putrescine: step 1/1.
SimilarityBelongs to the acetyltransferase family. {ECO:0000305}.
SimilarityContains 1 N-acetyltransferase domain. {ECO:0000255|PROSITE-ProRule:PRU00532}.
Subcellular LocationCytoplasm.
SubunitHomodimer. {ECO:0000269|PubMed:16455797, ECO:0000269|PubMed:16544326, ECO:0000269|PubMed:17516632}.
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