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

    Gene ID: 112483, updated on 2-Nov-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 nor-spermidine metabolic process and polyamine acetylation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See SAT2 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (7626234..7627876, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (7530435..7532077, complement)
    RS_2024_09 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 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. 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
    2. 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
    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-N1-acetyltransferase 2 is an essential component of the ubiquitin ligase complex that regulates hypoxia-inducible factor 1alpha. Baek JH, et al. J Biol Chem, 2007 Aug 10. PMID 17558023

    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_2024_08

    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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