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SAT2 spermidine/spermine N1-acetyltransferase family member 2 [ Homo sapiens (human) ]

Gene ID: 112483, updated on 5-Mar-2024

Summary

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Official Symbol
SAT2provided by HGNC
Official Full Name
spermidine/spermine N1-acetyltransferase family member 2provided by HGNC
Primary source
HGNC:HGNC:23160
See related
Ensembl:ENSG00000141504 MIM:611463; AllianceGenome:HGNC:23160
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SSAT2; SSAT-2
Summary
Enables diamine N-acetyltransferase activity and identical protein binding activity. Involved in polyamine metabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 97.2), duodenum (RPKM 89.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7626234..7627876, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7530435..7532077, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (7529552..7531194, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene FMR1 autosomal homolog 2 Neighboring gene uncharacterized LOC124904134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8133 Neighboring gene MPRA-validated peak2713 silencer Neighboring gene tRNA-undetermined (NNN) 6-1 Neighboring gene sex hormone binding globulin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11638 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11640 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:7551198-7551407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7552896-7553396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7553397-7553897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7554172-7554814 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7558514-7559332 Neighboring gene ATPase Na+/K+ transporting subunit beta 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:7571230-7572027 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7580287-7580898 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:7580899-7581510 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:7581511-7582121 Neighboring gene tumor protein p53 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11641 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:7589699-7590898 Neighboring gene WD repeat containing antisense to TP53

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Adenovirus-mediated expression of spermidine/spermine N1-acetyltransferase gene induces S-phase arrest in human colorectal cancer cells. Sun H, et al. Oncol Rep, 2008 Nov. PMID 18949426
  2. Crystal structure of Homo sapiens thialysine Nepsilon-acetyltransferase (HsSSAT2) in complex with acetyl coenzyme A. Han BW, et al. Proteins, 2006 Jul 1. PMID 16596569
  3. Spermidine/spermine-N1-acetyltransferase-2 (SSAT2) acetylates thialysine and is not involved in polyamine metabolism. Coleman CS, et al. Biochem J, 2004 Nov 15. PMID 15283699, Free PMC Article
  4. Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR. Gornati R, et al. Mol Cell Biochem, 2007 Apr. PMID 17119850
  5. Spermidine/spermine N(1)-acetyltransferase-1 binds to hypoxia-inducible factor-1alpha (HIF-1alpha) and RACK1 and promotes ubiquitination and degradation of HIF-1alpha. Baek JH, et al. J Biol Chem, 2007 Nov 16. PMID 17875644

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
  2. expression of SSAT mediated by Ad-SSAT infection inhibits the growth of colorectal cancer cells
    Title: Adenovirus-mediated expression of spermidine/spermine N1-acetyltransferase gene induces S-phase arrest in human colorectal cancer cells.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
  4. SSAT1, which shares 46% amino acid identity with SSAT2, also binds to HIF-1alpha and promotes its ubiquitination/degradation. However, in contrast to SSAT2, SSAT1 acts by stabilizing the interaction of HIF-1alpha with RACK1
    Title: Spermidine/spermine N(1)-acetyltransferase-1 binds to hypoxia-inducible factor-1alpha (HIF-1alpha) and RACK1 and promotes ubiquitination and degradation of HIF-1alpha.
  5. SSAT2 is an essential component of the ubiquitin ligase complex that regulates hypoxia-inducible factor 1alpha
    Title: Spermidine/spermine-N1-acetyltransferase 2 is an essential component of the ubiquitin ligase complex that regulates hypoxia-inducible factor 1alpha.
  6. Crystallization of this protein and its recombinant form and its complexation with coenzyme A.
    Title: Crystal structure of Homo sapiens thialysine Nepsilon-acetyltransferase (HsSSAT2) in complex with acetyl coenzyme A.
  7. The expression of three messengers coding for SAT-1, SAT-2 and GalNAcT-1 in human samples of intestinal cancer and some cell lines (breast cancer and melanomas), was evaluated.
    Title: Evaluation of SAT-1, SAT-2 and GalNAcT-1 mRNA in colon cancer by real-time PCR.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables diamine N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables diamine N-acetyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in nor-spermidine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in polyamine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in putrescine acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
NOT involved_in spermidine acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in spermidine acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in spermine acetylation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular exosome HDA PubMed 

General protein information

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Preferred Names
thialysine N-epsilon-acetyltransferase
Names
diamine N-acetyltransferase 2
diamine acetyltransferase 2
polyamine N-acetyltransferase 2
spermidine/spermine N(1)-acetyltransferase 2
NP_001307774.1
NP_001307775.1
NP_001307776.1
NP_597998.1
XP_016879562.1
XP_054170837.1

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.

mRNA and Protein(s)

  1. NM_001320845.1 → NP_001307774.1  thialysine N-epsilon-acetyltransferase isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC065922, BC095466, BP317593
    UniProtKB/TrEMBL
    Q502X4
    Related
    ENST00000380466.6
    Conserved Domains (2) summary
    COG0456
    Location:127 → 223
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
    pfam00583
    Location:150 → 225
    Acetyltransf_1; Acetyltransferase (GNAT) family

  2. NM_001320846.1 → NP_001307775.1  thialysine N-epsilon-acetyltransferase isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC011751, BC065922, BP317593, HY155008
    UniProtKB/TrEMBL
    Q502X4
    Conserved Domains (1) summary
    pfam00583
    Location:147 → 191
    Acetyltransf_1; Acetyltransferase (GNAT) family

  3. NM_001320847.2 → NP_001307776.1  thialysine N-epsilon-acetyltransferase isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' terminal exon and lacks an alternate in-frame exon in the central coding region, compared to variant 1. These differences result in a novel 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (4) has a distinct N-terminus, and is shorter than isoform 1.
    Source sequence(s)
    BC011751, BC065922, BG748008, BP317593
    Consensus CDS
    CCDS82055.1
    UniProtKB/TrEMBL
    I3L0W4
    Related
    ENSP00000458385.1, ENST00000573566.1
    Conserved Domains (1) summary
    pfam00583
    Location:68 → 110
    Acetyltransf_1; Acetyltransferase (GNAT) family

  4. NM_133491.5 → NP_597998.1  thialysine N-epsilon-acetyltransferase isoform 3

    See identical proteins and their annotated locations for NP_597998.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' terminal exon, resulting in a novel 5' UTR and the use of an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus, and is shorter than isoform 1.
    Source sequence(s)
    BC011751, BC065922
    Consensus CDS
    CCDS11116.1
    UniProtKB/Swiss-Prot
    Q96F10
    Related
    ENSP00000269298.5, ENST00000269298.10
    Conserved Domains (1) summary
    pfam00583
    Location:49 → 144
    Acetyltransf_1; Acetyltransferase (GNAT) family

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    7626234..7627876 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024073.1 → XP_016879562.1  thialysine N-epsilon-acetyltransferase isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    7530435..7532077 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314862.1 → XP_054170837.1  thialysine N-epsilon-acetyltransferase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96F10.1 GenPept UniProtKB/Swiss-Prot:Q96F10

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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