SIRT3 encodes a member of the sirtuin family of class III histone deacetylases, homologs to the yeast Sir2 protein. The encoded protein is found exclusively in mitochondria, where it can eliminate reactive oxygen species, inhibit apoptosis, and prevent the formation of cancer cells. SIRT3 has far-reaching effects on nuclear gene expression, cancer, cardiovascular disease, neuro... See more...

Aliases for SIRT3 Gene

Aliases for SIRT3 Gene

  • Sirtuin 3 2 3 5
  • SIR2L3 2 3 4
  • NAD-Dependent Protein Deacetylase Sirtuin-3, Mitochondrial 3 4
  • Regulatory Protein SIR2 Homolog 3 3 4
  • SIR2-Like Protein 3 3 4
  • Sirtuin (Silent Mating Type Information Regulation 2 Homolog) 3 (S. Cerevisiae) 2
  • Sirtuin (Silent Mating Type Information Regulation 2, S.Cerevisiae, Homolog) 3 2
  • Mitochondrial Nicotinamide Adenine Dinucleotide-Dependent Deacetylase 3
  • Silent Mating Type Information Regulation 2, S.Cerevisiae, Homolog 3 3
  • NAD-Dependent Deacetylase Sirtuin-3, Mitochondrial 3
  • Sirtuin Type 3 3
  • EC 2.3.1.286 4
  • Sir2-Like 3 3
  • HSIRT3 4
  • SIRT3 5

External Ids for SIRT3 Gene

Previous GeneCards Identifiers for SIRT3 Gene

  • GC11M000439
  • GC11M000261
  • GC11P000962
  • GC11M000206
  • GC11M000035
  • GC11M000216
  • GC11M000228
  • GC11M000241
  • GC11M000264

Summaries for SIRT3 Gene

Entrez Gene Summary for SIRT3 Gene

  • SIRT3 encodes a member of the sirtuin family of class III histone deacetylases, homologs to the yeast Sir2 protein. The encoded protein is found exclusively in mitochondria, where it can eliminate reactive oxygen species, inhibit apoptosis, and prevent the formation of cancer cells. SIRT3 has far-reaching effects on nuclear gene expression, cancer, cardiovascular disease, neuroprotection, aging, and metabolic control. [provided by RefSeq, May 2019]

GeneCards Summary for SIRT3 Gene

SIRT3 (Sirtuin 3) is a Protein Coding gene. Diseases associated with SIRT3 include Aging and Non-Alcoholic Fatty Liver Disease. Among its related pathways are NAD metabolism and DNA damage_NHEJ mechanisms of DSBs repair. Gene Ontology (GO) annotations related to this gene include enzyme binding and NAD+ ADP-ribosyltransferase activity. An important paralog of this gene is SIRT2.

UniProtKB/Swiss-Prot Summary for SIRT3 Gene

  • NAD-dependent protein deacetylase (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090, PubMed:19535340). Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090). Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5PO (PubMed:16788062, PubMed:18680753, PubMed:24121500, PubMed:24252090, PubMed:19535340). Contributes to the regulation of the cellular energy metabolism (PubMed:24252090). Important for regulating tissue-specific ATP levels (PubMed:18794531). In response to metabolic stress, deacetylates transcription factor FOXO3 and recruits FOXO3 and mitochondrial RNA polymerase POLRMT to mtDNA to promote mtDNA transcription (PubMed:23283301). Acts as a regulator of ceramide metabolism by mediating deacetylation of ceramide synthases CERS1, CERS2 and CERS6, thereby increasing their activity and promoting mitochondrial ceramide accumulation (By similarity).

Tocris Summary for SIRT3 Gene

  • Silent information regulator (Sir2)-like family deacetylases (also known as sirtuins) are a group of enzymes closely related to histone deacetylases. These enzymes can be found in the cytoplasm, mitochondria or nucleus of the cell and are ubiquitously expressed.

Gene Wiki entry for SIRT3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIRT3 Gene

Genomics for SIRT3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SIRT3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SIRT3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SIRT3

Top Transcription factor binding sites by QIAGEN in the SIRT3 gene promoter:
  • AML1a
  • CREB
  • deltaCREB
  • HTF
  • NRF-2
  • Pbx1a
  • TBP
  • TFIID

Genomic Locations for SIRT3 Gene

Latest Assembly
chr11:215,030-236,931
(GRCh38/hg38)
Size:
21,902 bases
Orientation:
Minus strand

Previous Assembly
chr11:215,030-236,931
(GRCh37/hg19 by Entrez Gene)
Size:
21,902 bases
Orientation:
Minus strand

chr11:215,458-236,931
(GRCh37/hg19 by Ensembl)
Size:
21,474 bases
Orientation:
Minus strand

Genomic View for SIRT3 Gene

Genes around SIRT3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIRT3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIRT3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIRT3 Gene

Proteins for SIRT3 Gene

  • Protein details for SIRT3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NTG7-SIR3_HUMAN
    Recommended name:
    NAD-dependent protein deacetylase sirtuin-3, mitochondrial
    Protein Accession:
    Q9NTG7
    Secondary Accessions:
    • B7Z5U6
    • Q9Y6E8

    Protein attributes for SIRT3 Gene

    Size:
    399 amino acids
    Molecular mass:
    43573 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Upon metabolic stress, forms a complex composed of FOXO3, SIRT3 and mitochondrial RNA polymerase POLRMT; the complex is recruited to mtDNA in a SIRT3-dependent manner (PubMed:23283301). Also forms a complex composed of FOXO3, SIRT3, TFAM and POLRMT (PubMed:29445193). Interacts with NDUFA9, ACSS1, IDH2 and GDH (PubMed:16788062, PubMed:18794531, PubMed:19535340, PubMed:18680753). Interacts with PCCA (PubMed:23438705).
    Miscellaneous:
    • Has some ability to deacetylate histones in vitro, but seeing its subcellular location, this is unlikely in vivo.

    Three dimensional structures from OCA and Proteopedia for SIRT3 Gene

    Alternative splice isoforms for SIRT3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SIRT3 Gene

Post-translational modifications for SIRT3 Gene

  • Processed by mitochondrial processing peptidase (MPP) to give a 28 kDa product. Such processing is probably essential for its enzymatic activity.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SIRT3 Gene

Domains & Families for SIRT3 Gene

Gene Families for SIRT3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SIRT3 Gene

InterPro:
Blocks:
  • Silent information regulator protein Sir2

Suggested Antigen Peptide Sequences for SIRT3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54618, highly similar to NAD-dependent deacetylase sirtuin-3, mitochondrial (EC 3.5.1.-) (B7Z5U6_HUMAN)
  • SIR2-like protein 3 (SIRT3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NTG7

UniProtKB/Swiss-Prot:

SIR3_HUMAN :
  • Belongs to the sirtuin family. Class I subfamily.
Family:
  • Belongs to the sirtuin family. Class I subfamily.
genes like me logo Genes that share domains with SIRT3: view

Function for SIRT3 Gene

Molecular function for SIRT3 Gene

UniProtKB/Swiss-Prot Function:
NAD-dependent protein deacetylase (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090, PubMed:19535340). Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090). Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5PO (PubMed:16788062, PubMed:18680753, PubMed:24121500, PubMed:24252090, PubMed:19535340). Contributes to the regulation of the cellular energy metabolism (PubMed:24252090). Important for regulating tissue-specific ATP levels (PubMed:18794531). In response to metabolic stress, deacetylates transcription factor FOXO3 and recruits FOXO3 and mitochondrial RNA polymerase POLRMT to mtDNA to promote mtDNA transcription (PubMed:23283301). Acts as a regulator of ceramide metabolism by mediating deacetylation of ceramide synthases CERS1, CERS2 and CERS6, thereby increasing their activity and promoting mitochondrial ceramide accumulation (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N(6)-acetyl-L-lysyl-[protein] + NAD(+) = 2''-O-acetyl-ADP-D-ribose + L-lysyl-[protein] + nicotinamide; Xref=Rhea:RHEA:43636, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15377, ChEBI:CHEBI:17154, ChEBI:CHEBI:29969, ChEBI:CHEBI:57540, ChEBI:CHEBI:61930, ChEBI:CHEBI:83767; EC=2.3.1.286; Evidence={ECO:0000255|PROSITE-ProRule:PRU00236, ECO:0000269|PubMed:12186850, ECO:0000269|PubMed:12374852, ECO:0000269|PubMed:16788062, ECO:0000269|PubMed:18680753, ECO:0000269|PubMed:18794531, ECO:0000269|PubMed:19535340, ECO:0000269|PubMed:24121500, ECO:0000305|PubMed:23283301};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=600 uM for NAD {ECO:0000269|PubMed:19535340};

Enzyme Numbers (IUBMB) for SIRT3 Gene

Phenotypes From GWAS Catalog for SIRT3 Gene

Gene Ontology (GO) - Molecular Function for SIRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003950 NOT NAD+ ADP-ribosyltransferase activity TAS 17456799
GO:0005515 protein binding IPI 16788062
GO:0008270 zinc ion binding IDA 19535340
GO:0016740 transferase activity IEA --
GO:0017136 NAD-dependent histone deacetylase activity IBA 21873635
genes like me logo Genes that share ontologies with SIRT3: view
genes like me logo Genes that share phenotypes with SIRT3: view

Animal Models for SIRT3 Gene

MGI Knock Outs for SIRT3:

Animal Models for research

  • Taconic Biosciences Mouse Models for SIRT3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIRT3

Clone products for research

  • Addgene plasmids for SIRT3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIRT3 Gene

Localization for SIRT3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIRT3 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SIRT3 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 3
cytosol 3
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SIRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005739 mitochondrion IEA,IDA 16079181
GO:0005759 mitochondrial matrix TAS --
GO:0032991 protein-containing complex IDA 23283301
genes like me logo Genes that share ontologies with SIRT3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIRT3 Gene

Pathways & Interactions for SIRT3 Gene

genes like me logo Genes that share pathways with SIRT3: view

Pathways by source for SIRT3 Gene

2 GeneGo (Thomson Reuters) pathways for SIRT3 Gene
  • DNA damage_NHEJ mechanisms of DSBs repair
  • NAD metabolism
2 Qiagen pathways for SIRT3 Gene
  • p53 Signaling
  • SUMO Pathway
2 Cell Signaling Technology pathways for SIRT3 Gene

SIGNOR curated interactions for SIRT3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for SIRT3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006471 NOT protein ADP-ribosylation ISS,TAS 17456799
GO:0006476 protein deacetylation IDA 16788062
GO:0007005 mitochondrion organization TAS --
GO:0007568 aging IEA --
GO:0009060 aerobic respiration IMP 22309213
genes like me logo Genes that share ontologies with SIRT3: view

Drugs & Compounds for SIRT3 Gene

(13) Drugs for SIRT3 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nicotinamide Approved, Investigational Pharma 474,474
Panobinostat Approved, Investigational Pharma Inhibition, inhibitor Histone deacetylase (HDAC)inhibitors 146
Adenosine-5-Diphosphoribose Experimental Pharma Target 0
NAD Experimental Pharma 0
Resveratrol Investigational Pharma Cyclooxygenase inhibitor 170

(5) Additional Compounds for SIRT3 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-acetyl-ADP-ribose
  • {[4-(acetyloxy)-3,5-dihydroxyoxolan-2-yl]methoxy}[({[5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy]phosphinate
EX 527
49843-98-3
YK 3-237
1215281-19-8

(5) Tocris Compounds for SIRT3 Gene

Compound Action Cas Number
AGK 2 Selective SIRT2 inhibitor 304896-28-4
EX 527 Selective SIRT1 inhibitor 49843-98-3
Sirtinol Selective sirtuin family deacetylase inhibitor 410536-97-9
Splitomicin Sir2p inhibitor 5690-03-9
YK 3-237 SIRT1 activator 1215281-19-8

(8) ApexBio Compounds for SIRT3 Gene

Compound Action Cas Number
AK-7 420831-40-9
Inauhzin SIRT1 inhibitor 309271-94-1
Resveratrol 501-36-0
Sirtinol SIRT inhibitor 410536-97-9
Splitomicin 5690-03-9
SRT2104 (GSK2245840) 1093403-33-8
Tenovin-6 SIRT inhibitor and p53 activator 1011557-82-6
Triacetyl Resveratrol Cell-permeable resveratrol prodrug 42206-94-0
genes like me logo Genes that share compounds with SIRT3: view

Drug products for research

Transcripts for SIRT3 Gene

mRNA/cDNA for SIRT3 Gene

16 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SIRT3

Clone products for research

  • Addgene plasmids for SIRT3

Alternative Splicing Database (ASD) splice patterns (SP) for SIRT3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g ^ 10 ^
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - -
SP4: -
SP5: - - - -
SP6: - -
SP7: - - - -
SP8: - - - - - - - - -
SP9: - - - -
SP10: - - -
SP11: - - - - -
SP12: - - - - - -
SP13: - - - - - - - - - - - - -
SP14: - -
SP15:

ExUns: 11a · 11b · 11c ^ 12a · 12b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for SIRT3 Gene

GeneLoc Exon Structure for
SIRT3

Expression for SIRT3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SIRT3 Gene

Protein differential expression in normal tissues from HIPED for SIRT3 Gene

This gene is overexpressed in Bone (10.9), Plasma (8.9), and Heart (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SIRT3 Gene



Protein tissue co-expression partners for SIRT3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SIRT3

SOURCE GeneReport for Unigene cluster for SIRT3 Gene:

Hs.716456

mRNA Expression by UniProt/SwissProt for SIRT3 Gene:

Q9NTG7-SIR3_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for SIRT3 Gene

  • Liver(4.6)
  • Lung(4.5)
  • Nervous system(4.4)
  • Muscle(3.2)
  • Heart(3.1)
  • Kidney(2.9)
  • Blood(2.7)
  • Skin(2.7)
  • Eye(2.7)
  • Pancreas(2.6)
  • Intestine(2.6)
  • Adrenal gland(2.3)
  • Thyroid gland(2.3)
  • Spleen(2.3)
  • Stomach(2.2)
  • Bone marrow(2.2)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with SIRT3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIRT3 Gene

Orthologs for SIRT3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SIRT3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SIRT3 29
  • 99.38 (n)
Rat
(Rattus norvegicus)
Mammalia Sirt3 29
  • 85.42 (n)
Mouse
(Mus musculus)
Mammalia Sirt3 29 16 30
  • 83.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SIRT3 29 30
  • 83.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SIRT3 29 30
  • 83.02 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SIRT3 30
  • 79 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SIRT3 30
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SIRT3 29 30
  • 74.29 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SIRT3 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sirt3 29
  • 63.13 (n)
Str.4714 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.4307 29
Zebrafish
(Danio rerio)
Actinopterygii sirt3 29 30
  • 67.67 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG5085 31
  • 51 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HST2 30 32
  • 34 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 50 (a)
OneToOne
Species where no ortholog for SIRT3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SIRT3 Gene

ENSEMBL:
Gene Tree for SIRT3 (if available)
TreeFam:
Gene Tree for SIRT3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIRT3: view image
Alliance of Genome Resources:
Additional Orthologs for SIRT3

Paralogs for SIRT3 Gene

Paralogs for SIRT3 Gene

(3) SIMAP similar genes for SIRT3 Gene using alignment to 10 proteins:

  • SIR3_HUMAN
  • B7WNN4_HUMAN
  • E9PIT6_HUMAN
  • E9PJS6_HUMAN
  • E9PK80_HUMAN
  • E9PM52_HUMAN
  • E9PM75_HUMAN
  • E9PN58_HUMAN
  • E9PNA0_HUMAN
  • E9PR48_HUMAN
genes like me logo Genes that share paralogs with SIRT3: view

Variants for SIRT3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SIRT3 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs143632880 Benign: not provided 236,094(-) A/G
NM_012239.6(SIRT3):c.235T>C (p.Phe79Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs61748606 Benign: not provided 230,474(-) G/T
NM_012239.6(SIRT3):c.785C>A (p.Pro262His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs11246020 -- p.Val208Ile
rs28365927 -- p.Arg80Trp
rs3020901 -- p.Gly369Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SIRT3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SIRT3 Gene

Variant ID Type Subtype PubMed ID
dgv1010n100 CNV gain 25217958
dgv1011n100 CNV gain 25217958
dgv1012n100 CNV gain 25217958
dgv1505n54 CNV gain 21841781
dgv47e215 CNV deletion 23714750
esv1104397 CNV deletion 17803354
esv1251555 CNV deletion 17803354
esv1679398 CNV deletion 17803354
esv22231 CNV gain 19812545
esv2413108 CNV deletion 18987734
esv2674082 CNV deletion 23128226
esv2678621 CNV deletion 23128226
esv32593 CNV loss 17666407
esv3547164 CNV deletion 23714750
esv3579240 CNV loss 25503493
esv3625060 CNV gain 21293372
esv3625061 CNV gain 21293372
esv989341 CNV deletion 20482838
nsv1052484 CNV gain 25217958
nsv1124526 CNV deletion 24896259
nsv1153322 CNV deletion 26484159
nsv467630 CNV gain 19166990
nsv467631 CNV gain 19166990
nsv469921 CNV gain 18288195
nsv522596 CNV gain 19592680
nsv552762 CNV gain 21841781
nsv552765 CNV gain 21841781
nsv7632 CNV insertion 18451855

Variation tolerance for SIRT3 Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.02; 75.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIRT3 Gene

Human Gene Mutation Database (HGMD)
SIRT3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIRT3
Leiden Open Variation Database (LOVD)
SIRT3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIRT3 Gene

Disorders for SIRT3 Gene

MalaCards: The human disease database

(11) MalaCards diseases for SIRT3 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
aging
non-alcoholic fatty liver disease
  • nafld
lung cancer
  • lung cancer, susceptibility to
monckeberg arteriosclerosis
  • monckeberg medial calcific sclerosis
optic atrophy 1
  • opa1
- elite association - COSMIC cancer census association via MalaCards
Search SIRT3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SIRT3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SIRT3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIRT3 Gene

Publications for SIRT3 Gene

  1. Substrates and regulation mechanisms for the human mitochondrial sirtuins Sirt3 and Sirt5. (PMID: 18680753) Schlicker C … Steegborn C (Journal of molecular biology 2008) 3 4 22
  2. The human SIRT3 protein deacetylase is exclusively mitochondrial. (PMID: 18215119) Cooper HM … Spelbrink JN (The Biochemical journal 2008) 2 3 4
  3. Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2. (PMID: 16788062) Schwer B … Verdin E (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22
  4. A novel VNTR enhancer within the SIRT3 gene, a human homologue of SIR2, is associated with survival at oldest ages. (PMID: 15676284) Bellizzi D … De Benedictis G (Genomics 2005) 3 22 40
  5. The human silent information regulator (Sir)2 homologue hSIRT3 is a mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase. (PMID: 12186850) Schwer B … Verdin E (The Journal of cell biology 2002) 3 4 22

Products for SIRT3 Gene

Sources for SIRT3 Gene