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

Gene ID: 6303, updated on 18-Dec-2018

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
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

Genomic context

See SAT1 in Genome Data Viewer
Location:
Xp22.11
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (23783158..23786223)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (23801275..23804327)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene acyl-CoA thioesterase 9 Neighboring gene uncharacterized LOC105373148 Neighboring gene ribosomal protein L9 pseudogene 7 Neighboring gene apolipoprotein O 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 FunctionsWhat'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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17136

Gene Ontology Provided by GOA

Function Evidence Code Pubs
N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
diamine N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
diamine N-acetyltransferase activity TAS
Traceable Author Statement
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
spermidine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
polyamine biosynthetic process TAS
Traceable Author Statement
more info
 
putrescine catabolic process IEA
Inferred from Electronic Annotation
more info
 
regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
spermidine acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
XP_024308189.1

NCBI Reference Sequences (RefSeq)

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
    5001..8066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002970.3NP_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)
    AW874291, BC008424, CN271682
    Consensus CDS
    CCDS14207.1
    UniProtKB/Swiss-Prot
    P21673
    Related
    ENSP00000368572.4, ENST00000379270.4
    Conserved Domains (1) summary
    pfam00583
    Location:36144
    Acetyltransf_1; Acetyltransferase (GNAT) family

RNA

  1. NR_027783.2 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, AW874291, CD516700
    Related
    ENST00000489394.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    23783158..23786223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452421.1XP_024308189.1  diamine acetyltransferase 1 isoform X1

    Conserved Domains (1) summary
    pfam00583
    Location:106179
    Acetyltransf_1; Acetyltransferase (GNAT) family
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