SAT1 (Spermidine/Spermine N1-Acetyltransferase 1)
Key regulator of polyamine catabolism and cellular homeostasis
Gene Information Card
| Symbol | SAT1 |
|---|---|
| Full Name | Spermidine/Spermine N1-Acetyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.1 |
| NCBI Gene ID | 6303 ncbi.nlm.nih.gov/gene/6303 |
| Ensembl ID | ENSG00000130066 |
| UniProt ID | P21673 |
| OMIM ID | 313020 |
| HGNC ID | 10540 |
| Aliases | SSAT, SSAT-1, DC21 |
Description
SAT1 encodes spermidine/spermine N1-acetyltransferase 1, the rate-limiting enzyme in polyamine catabolism. It catalyzes the acetylation of spermidine and spermine, facilitating their export or degradation. This gene is involved in regulating cellular polyamine levels, which are critical for cell growth, differentiation, and apoptosis. Dysregulation of SAT1 is associated with various cancers and genetic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Snyder-Robinson Syndrome | Loss-of-function mutations in SAT1 lead to accumulation of spermine, causing X-linked intellectual disability and skeletal abnormalities. | ClinVar, OMIM |
| Colorectal Cancer | Overexpression of SAT1 alters polyamine homeostasis, promoting tumorigenesis. | COSMIC, NCBI |
| Prostate Cancer | Increased SAT1 activity correlates with aggressive disease and poor prognosis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HeLa | 9.8 | Cervical cancer cell line |
| MCF7 | 7.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146Gln) | Missense | <0.01% | Loss of function; associated with Snyder-Robinson syndrome |
| c.538C>T (p.Arg180*) | Nonsense | <0.01% | Loss of function; associated with Snyder-Robinson syndrome |
| c.112A>G (p.Thr38Ala) | Missense | 0.02% | Reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations (e.g., p.Arg146Gln, p.Arg180*) reduce or abolish acetyltransferase activity, leading to polyamine accumulation and Snyder-Robinson syndrome.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function effects via altered polyamine metabolism.
Dominant Negative (DN)
Not reported for SAT1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Polyamine metabolism (Reactome: R-HSA-351202)
• Spermidine and spermine degradation (KEGG: map00330)
Protein Summary
SAT1 encodes a 171-amino acid protein (20 kDa) that belongs to the N-acetyltransferase family. It is a homodimeric enzyme localized in the cytoplasm and cytosol. The protein catalyzes the N1-acetylation of spermidine and spermine, using acetyl-CoA as a cofactor. This acetylation targets polyamines for export or oxidation, maintaining cellular polyamine balance. SAT1 is induced by polyamines, growth factors, and cellular stress, and its dysregulation contributes to cancer and genetic disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSAT1 Knockout HEK293 Cell Line | EDJ-KQ9108 | Human | 29968 | Details Get a Quote |
| PSAT1 Knockout HeLa Cell Line | EDJ-KQ34368 | Human | 29968 | Details Get a Quote |
| PSAT1 Knockout A-549 Cell Line | EDJ-KQ35618 | Human | 29968 | Details Get a Quote |
| PSAT1 Knockout HCT 116 Cell Line | EDJ-KQ35619 | Human | 29968 | Details Get a Quote |
| SAT1 Knockout HEK293 Cell Line | EDJ-KQ50608 | Human | 6303 | Details Get a Quote |
| SAT1 Knockout HeLa Cell Line | EDJ-KQ54391 | Human | 6303 | Details Get a Quote |
| SAT1 Knockout A-549 Cell Line | EDJ-KQ62883 | Human | 6303 | Details Get a Quote |
| SAT1 Knockout HCT 116 Cell Line | EDJ-KQ71350 | Human | 6303 | Details Get a Quote |
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