Human Gene SAT1 (ENST00000379270.5) from GENCODE V44
Description: Homo sapiens spermidine/spermine N1-acetyltransferase 1 (SAT1), transcript variant 1, mRNA. (from RefSeq NM_002970) RefSeq Summary (NM_002970): 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]. Gencode Transcript: ENST00000379270.5 Gencode Gene: ENSG00000130066.17 Transcript (Including UTRs) Position: hg38 chrX:23,783,173-23,786,210 Size: 3,038 Total Exon Count: 6 Strand: + Coding Region Position: hg38 chrX:23,783,352-23,785,856 Size: 2,505 Coding Exon Count: 6
ID:SAT1_HUMAN DESCRIPTION: RecName: Full=Diamine acetyltransferase 1; EC=2.3.1.57; AltName: Full=Polyamine N-acetyltransferase 1; AltName: Full=Putrescine acetyltransferase; AltName: Full=Spermidine/spermine N(1)-acetyltransferase 1; Short=SSAT; Short=SSAT-1; FUNCTION: 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. CATALYTIC ACTIVITY: Acetyl-CoA + an alkane-alpha,omega-diamine = CoA + an N-acetyldiamine. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=3.8 uM for acetyl-coenzyme A; KM=5.7 uM for spermine; KM=22 uM for spermidine; pH dependence: Optimum pH is 8.0; PATHWAY: Amine and polyamine degradation; putrescine degradation; N-acetylputrescine from putrescine: step 1/1. SUBUNIT: Homodimer. INTERACTION: P17482:HOXB9; NbExp=3; IntAct=EBI-711613, EBI-745290; Q9BQ70:TCF25; NbExp=3; IntAct=EBI-711613, EBI-745182; SUBCELLULAR LOCATION: Cytoplasm. DISEASE: Defects in SAT1 may be a cause of keratosis 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. SIMILARITY: Belongs to the acetyltransferase family. SIMILARITY: Contains 1 N-acetyltransferase domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P21673
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
