U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 6303, updated on 5-Mar-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    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_000023.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20705 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:23770819-23771006 Neighboring gene SAT1 divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:23798968-23799606 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:23800811-23802010 Neighboring gene uncharacterized LOC127933115 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:23825194-23826393 Neighboring gene ribosomal protein L9 pseudogene 7 Neighboring gene apolipoprotein O Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:23900936-23901702 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:23905519-23905696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29494 Neighboring gene chromosome X open reading frame 58

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17136

    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

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_012929.1 RefSeqGene

      Range
      5016..8053
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002970.4NP_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:36144
      Acetyltransf_1; Acetyltransferase (GNAT) family

    RNA

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      23783173..23786210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      23366856..23369893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)