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

Gene ID: 112483, updated on 23-Nov-2021

Summary

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
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
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

See SAT2 in Genome Data Viewer
Location:
17p13.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (7626234..7627878, complement)
105.20201022 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 tRNA-undetermined (NNN) 6-1 Neighboring gene sex hormone binding globulin Neighboring gene ATPase Na+/K+ transporting subunit beta 2 Neighboring gene tumor protein p53 Neighboring gene WD repeat containing antisense to TP53

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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 
enables spermidine binding IBA
Inferred from Biological aspect of Ancestor
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

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_016879563.1

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_001320845.1NP_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:127223
    RimI; Ribosomal protein S18 acetylase RimI and related acetyltransferases [Translation, ribosomal structure and biogenesis]
    pfam00583
    Location:150225
    Acetyltransf_1; Acetyltransferase (GNAT) family
  2. NM_001320846.1NP_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/Swiss-Prot
    Q96F10
    Conserved Domains (1) summary
    pfam00583
    Location:147191
    Acetyltransf_1; Acetyltransferase (GNAT) family
  3. NM_001320847.2NP_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/Swiss-Prot
    Q96F10
    UniProtKB/TrEMBL
    I3L0W4
    Related
    ENSP00000458385.1, ENST00000573566.1
    Conserved Domains (1) summary
    pfam00583
    Location:68110
    Acetyltransf_1; Acetyltransferase (GNAT) family
  4. NM_133491.5NP_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:49144
    Acetyltransf_1; Acetyltransferase (GNAT) family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    7626234..7627878 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024074.1XP_016879563.1  thialysine N-epsilon-acetyltransferase isoform X2

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

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