SAT1 spermidine/spermine N1-acetyltransferase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SAT1provided by HGNC
Official Full Name: spermidine/spermine N1-acetyltransferase 1provided by HGNC
Primary source: HGNC:HGNC:10540
See related: Ensembl:ENSG00000130066 MIM:313020; AllianceGenome:HGNC:10540
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAT; DC21; KFSD; SSAT; KFSDX; SSAT-1
Summary: 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]
Expression: Ubiquitous expression in bone marrow (RPKM 336.5), thyroid (RPKM 226.9) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.11

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (23783173..23786210)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (23366856..23369893)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (23801290..23804327)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MYC-driven U2SURP regulates alternative splicing of SAT1 to promote triple-negative breast cancer progression.
Title: MYC-driven U2SURP regulates alternative splicing of SAT1 to promote triple-negative breast cancer progression.
Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus.
Title: Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus.
ASMTL-AS1 impedes the malignant progression of lung adenocarcinoma by regulating SAT1 to promote ferroptosis.
Title: ASMTL-AS1 impedes the malignant progression of lung adenocarcinoma by regulating SAT1 to promote ferroptosis.
Dengue virus targets RBM10 deregulating host cell splicing and innate immune response.
Title: Dengue virus targets RBM10 deregulating host cell splicing and innate immune response.
Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.
Title: Identification of TAF1, SAT1, and ARHGEF9 as DNA methylation biomarkers for hepatocellular carcinoma.
CRISPR knockin mutants demonstrate the essentiality of the polyamine acetyltransferase activity of SAT1 for its function as a transcriptional regulator
Title: Spermidine/spermine N1-acetyltransferase 1 is a gene-specific transcriptional regulator that drives brain tumor aggressiveness.
SSATX, an alternative splicing variant of the SAT1 gene, is proposed to function as a long non-coding RNA prior to its degradation in melanoma cells.
Title: Knockdown of SSATX, an alternative splicing variant of the SAT1 gene, promotes melanoma progression.
Activation of SAT1 expression induces lipid peroxidation and sensitizes cells to undergo ferroptosis upon reactive oxygen species (ROS)-induced stress, which also leads to suppression of tumor growth in xenograft tumor models. Notably, SAT1 expression is down-regulated in human tumors, and CRISPR-cas9-mediated knockout of SAT1 expression partially abrogates p53-mediated ferroptosis. Moreover, SAT1 induction is correlated
Title: Activation of SAT1 engages polyamine metabolism with p53-mediated ferroptotic responses.
our results indicated depletion of polyamines by SSAT signi fi cantly inhibited cell proliferation, migration and invasion through AKT/GSK3beta/beta-catenin signaling pathway in hepatocellular carcinoma and colorectal cancer cells.
Title: Spermidine/spermine N1-acetyltransferase regulates cell growth and metastasis via AKT/β-catenin signaling pathways in hepatocellular and colorectal carcinoma cells.
Extracellular polyamines induced proliferation and cancer cell migration by inducing ODC and SSAT expression, and the Akt1-mediated pathway.
Title: Extracellular polyamines-induced proliferation and migration of cancer cells by ODC, SSAT, and Akt1-mediated pathway.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat upregulates the interferon-responsive gene expression of many proteins, including Spermidine N1-acetyltransferase, in immature dendritic cells, an effect that likely facilitates the expansion of HIV-1 infection	PubMed
Vif	vif	It is postulated that HIV-1 Vif modulates SSAT activity, affecting levels of cellular polyamines leading to possible effects on the properties of viral RNA	PubMed
	vif	Binding of HIV-1 Vif to SSAT was identified using a yeast two-hybrid screen and confirmed by co-immunoprecipitation	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH77846 (e-PCR)
- UniSTS:78944

RH17558 (e-PCR)
- UniSTS:71014

RH81013 (e-PCR)
- UniSTS:86146

SHGC-34052 (e-PCR)
- UniSTS:11672

SAT1 (e-PCR)
- UniSTS:506529

MARC_4853-4854:991938661:1 (e-PCR)
- UniSTS:231098

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables diamine N-acetyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables diamine N-acetyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables diamine N-acetyltransferase activity	TAS Traceable Author Statement more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables spermidine binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in angiogenesis	IEP Inferred from Expression Pattern more info	PubMed
involved_in polyamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in polyamine biosynthetic process	TAS Traceable Author Statement more info
involved_in putrescine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in spermidine acetylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermidine acetylation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: diamine acetyltransferase 1

Names: diamine N-acetyltransferase 1; epididymis secretory sperm binding protein; polyamine N-acetyltransferase 1; putrescine acetyltransferase; spermidine/spermine N1-acetyltransferase alpha

NP_002961.1

EC 2.3.1.57

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012929.1 RefSeqGene

Range

5016..8053

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002970.4 → NP_002961.1 diamine acetyltransferase 1

See identical proteins and their annotated locations for NP_002961.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein coding transcript.

Source sequence(s)

AC131011

Consensus CDS

CCDS14207.1

UniProtKB/Swiss-Prot

P21673, Q6ICU9

UniProtKB/TrEMBL

A0A384NQ10, E9PD37

Related

ENSP00000368572.4, ENST00000379270.5

Conserved Domains (1) summary

pfam00583
Location:36 → 144

Acetyltransf_1; Acetyltransferase (GNAT) family

RNA

NR_027783.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional internal exon, compared to variant 1. This variant is represented as non-coding because use of the 5'-most expected translation start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL050290, CD516700

Related

ENST00000489394.5