Format

Send to:

Choose Destination

SIRT3 sirtuin 3 [ Homo sapiens (human) ]

Gene ID: 23410, updated on 14-Oct-2018

Summary

Official Symbol
SIRT3provided by HGNC
Official Full Name
sirtuin 3provided by HGNC
Primary source
HGNC:HGNC:14931
See related
Ensembl:ENSG00000142082 MIM:604481; Vega:OTTHUMG00000119074
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
SIR2L3
Summary
This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 6.7), brain (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See SIRT3 in Genome Data Viewer
Location:
11p15.5
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (215030..236950, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (215030..236362, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Bet1 golgi vesicular membrane trafficking protein like Neighboring gene RIC8 guanine nucleotide exchange factor A Neighboring gene microRNA 6743 Neighboring gene proteasome 26S subunit, non-ATPase 13 Neighboring gene signal recognition particle 19kDa pseudogene Neighboring gene cytochrome c oxidase subunit 8B, pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from BioSystems

  • Central carbon metabolism in cancer, organism-specific biosystem (from KEGG)
    Central carbon metabolism in cancer, organism-specific biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Central carbon metabolism in cancer, conserved biosystem (from KEGG)
    Central carbon metabolism in cancer, conserved biosystemMalignant transformation of cells requires specific adaptations of cellular metabolism to support growth and survival. In the early twentieth century, Otto Warburg established that there are fundamen...
  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • NAD metabolism, sirtuins and aging, organism-specific biosystem (from WikiPathways)
    NAD metabolism, sirtuins and aging, organism-specific biosystemA model for DNA damage, inflammation, NAD+, and aging. Two key events, the activation of PARP by DNA damage and the decreased NAMPT expression associated with inflammation, lead to decreased SIRT1 an...
  • NAD+ biosynthetic pathways, organism-specific biosystem (from WikiPathways)
    NAD+ biosynthetic pathways, organism-specific biosystemNAD+ biosynthetic pathways. NAD+ levels are maintained by three independent pathways. First, the Preiss-Handler pathway uses dietary nicotinic acid and the enzyme nicotinic acid phosphoribosyltransfe...
  • NAD+ metabolism, organism-specific biosystem (from WikiPathways)
    NAD+ metabolism, organism-specific biosystemNAD+ metabolism in different cellular compartments. The different precursors to intracellular NAD metabolism - tryptophan, nicotinic acid (NA), nicotinamide, NR, and NMN - are shown, along with their...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Signaling events mediated by HDAC Class I, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class I, organism-specific biosystem
    Signaling events mediated by HDAC Class I
  • Signaling events mediated by HDAC Class III, organism-specific biosystem (from Pathway Interaction Database)
    Signaling events mediated by HDAC Class III, organism-specific biosystem
    Signaling events mediated by HDAC Class III
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT NAD+ ADP-ribosyltransferase activity TAS
Traceable Author Statement
more info
PubMed 
NAD+ binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD-dependent histone deacetylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NAD-dependent protein deacetylase activity TAS
Traceable Author Statement
more info
 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration IMP
Inferred from Mutant Phenotype
more info
PubMed 
aging IEA
Inferred from Electronic Annotation
more info
 
histone deacetylation IEA
Inferred from Electronic Annotation
more info
 
mitochondrion organization TAS
Traceable Author Statement
more info
 
negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of reactive oxygen species metabolic process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-lysine deacetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
NOT protein ADP-ribosylation TAS
Traceable Author Statement
more info
PubMed 
protein deacetylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NAD-dependent protein deacetylase sirtuin-3, mitochondrial
Names
NAD-dependent deacetylase sirtuin-3, mitochondrial
SIR2-like protein 3
mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase
regulatory protein SIR2 homolog 3
silent mating type information regulation 2, S.cerevisiae, homolog 3
sir2-like 3
sirtuin type 3

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.

mRNA and Protein(s)

  1. NM_001017524.2NP_001017524.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform b

    See identical proteins and their annotated locations for NP_001017524.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' end which causes the use of a downstream start codon, compared to variant 1. The resulting protein (isoform b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC069287, AF083108, AI091200, AL535769, BC001042, BI755839, BM973763, DR762907
    Consensus CDS
    CCDS53590.1
    UniProtKB/Swiss-Prot
    Q9NTG7
    Related
    ENSP00000435464.1, OTTHUMP00000230525, ENST00000525319.5, OTTHUMT00000385459
    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  2. NM_012239.5NP_036371.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_036371.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform a).
    Source sequence(s)
    AC069287, AF083108, AI091200, AL535769, BC001042, BM973763, DR762907
    Consensus CDS
    CCDS7691.1
    UniProtKB/Swiss-Prot
    Q9NTG7
    Related
    ENSP00000372191.4, OTTHUMP00000147616, ENST00000382743.8, OTTHUMT00000239288
    Conserved Domains (1) summary
    cd01408
    Location:138373
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    215030..236950 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017429.1XP_016872918.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X2

    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  2. XM_017017430.2XP_016872919.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X3

    UniProtKB/Swiss-Prot
    Q9NTG7
    Related
    ENSP00000437216.1, OTTHUMP00000230528, ENST00000529382.5
    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  3. XM_005252835.1XP_005252892.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X1

    Related
    ENSP00000432937.1, OTTHUMP00000230526, ENST00000524564.5, OTTHUMT00000385460
    Conserved Domains (1) summary
    cd01408
    Location:138373
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  4. XM_017017428.1XP_016872917.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X2

    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  5. XM_017017431.1XP_016872920.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X2

    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  6. XM_011519956.2XP_011518258.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_011518258.1

    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  7. XM_024448410.1XP_024304178.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X3

    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...
  8. XM_011519957.2XP_011518259.1  NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_011518259.1

    Conserved Domains (1) summary
    cd01408
    Location:1231
    SIRT1; SIRT1: Eukaryotic group (class1) which includes human sirtuins SIRT1-3 and yeast Hst1-4; and are members of the SIR2 family of proteins, silent information regulator 2 (Sir2) enzymes which catalyze NAD+-dependent protein/histone deacetylation. Sir2 ...

RNA

  1. XR_001747817.1 RNA Sequence

Support Center