Gene
SAT1
spermidine/spermine N1-acetyltransferase 1
- HGNC 10540↗(opens in a new tab)
- Ensembl gene ENSG00000130066↗(opens in a new tab)
- NCBI Gene 6303↗(opens in a new tab)
Summary
- Cytogenetic location
- Xp22.11
- Coordinates
- Chromosome X: 23,783,173–23,786,210 (GRCh38)
- Exons
- 6 exons across 3 kb
- Protein
- 171 amino acids
- Also known as
- SSAT
- Previous symbols
- SAT
- MANE Select transcript
- ENST00000379270.5NM_002970.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Autoimmune Disease
A disorder resulting from loss of function or tissue destruction of an organ or multiple organs, arising from humoral or cellular immune responses of the individual to their own tissue constituents. It may be systemic (e.g., systemic lupus erythematosus), or organ specific, (e.g., thyroiditis).
- 1 GenCC submitter rates it definitive or strong
Systemic Lupus Erythematosus
An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Standard SLE: hydroxychloroquine, mycophenolate, belimumab, anifrolumab; Complement-deficient lupus: FFP replacement; Interferonopathy: anifrolumab, JAK inhibitors; All: sun protection, cardiovascular risk management, pregnancy planning
How SAT1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1 kb of the gene's 3 kb; 516 of those bases code for the protein.
Genes linked to the same conditions
- C1QAcomplement C1q A chainShares 2 conditions
- DNASE1L3deoxyribonuclease 1L3Shares 2 conditions
- PRKCDprotein kinase C deltaShares 2 conditions
- TREX1three prime repair exonuclease 1Shares 2 conditions
- UNC93B1unc-93B1 regulator of TLR signalingShares 2 conditions
- AIREautoimmune regulatorShares 1 condition
- ATP2C1ATPase secretory pathway Ca2+ transporting 1Shares 1 condition
- CASP10caspase 10Shares 1 condition
- CASP8caspase 8Shares 1 condition
- CBLBCbl proto-oncogene BShares 1 condition
- CHRNGcholinergic receptor nicotinic gamma subunitShares 1 condition
- CTLA4cytotoxic T-lymphocyte associated protein 4Shares 1 condition
Traits linked to SAT1
The Human Phenotype Ontology lists these as features of the rare conditions SAT1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SAT1 gene: spermidine/spermine N1-acetyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/sat1
Dante Labs. SAT1 gene: spermidine/spermine N1-acetyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sat1
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