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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SIRT3 Gene

protein-coding   GIFtS: 67
GCID: GC11M000228

sirtuin 3

(Previous names: sirtuin (silent mating type information regulation 2, S.cerevisiae,...)
 Explore 9 diseases affiliated with
SIRT3 via our new
 Human Malady Compendium 
Biological research products
for SIRT3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Sirtuin 31 2     NAD-Dependent Deacetylase Sirtuin-3, Mitochondrial2
SIR2L31 2 3 5     NAD-Dependent Protein Deacetylase Sirtuin-3, Mitochondrial2
Regulatory Protein SIR2 Homolog 32 3     Silent Mating Type Information Regulation 2, S.Cerevisiae, Homolog 32
SIR2-Like Protein 32 3     Sir2-Like 32
Sirtuin (Silent Mating Type Information Regulation 2 Homolog) 3 (S. Cerevisiae)1     Sirtuin Type 32
Sirtuin (Silent Mating Type Information Regulation 2, S.Cerevisiae, Homolog) 31     EC 3.5.1.-3
Mitochondrial Nicotinamide Adenine Dinucleotide-Dependent Deacetylase2     HSIRT31

External Ids:    HGNC: 149311   Entrez Gene: 234102   Ensembl: ENSG000001420827   OMIM: 6044815   UniProtKB: Q9NTG73   

Export aliases for SIRT3 gene to outside databases

Previous GC identifers: GC11M000439 GC11M000261 GC11P000962 GC11M000206 GC11M000035 GC11M000216


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SIRT3:
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)

UniProtKB/Swiss-Prot: SIR3_HUMAN, Q9NTG7
Function: NAD-dependent protein deacetylase. Activates mitochondrial target proteins, including ACSS1, IDH2 and GDH by
deacetylating key lysine residues. Contributes to the regulation of the cellular energy metabolism. Important for
regulating tissue-specific ATP levels

summary for SIRT3:
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 and are ubiquitously expressed. Sir2-like family deacetylases catalyze the removal of acetyl groups
from lysine residues in histones and non-histone proteins, which is coupled to NAD+ hydrolysis. In general,
sirtuins do not act autonomously but as components of large multiprotein complexes, such as pRb-E2F and
mSin3A, that mediate important transcription regulatory pathways. Sirtuins have a role in regulation of
transcription and apoptosis leading to substantial interest in inhibitors of these enzymes as possible
antineoplastic agents. In addition, Sir2-like family deacteylases are involved in the normal ageing process
through their role in resistance to cellular stress.

Gene Wiki entry for SIRT3


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SIRT3 gene promoter:
         TBP   Pbx1a   AML1a   HTF   CREB   NRF-2   deltaCREB   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSIRT3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SIRT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SIRT3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

SIRT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SIRT3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M000228:  view genomic region     (about GC identifiers)

Start:
215,030 bp from pter      End:
236,931 bp from pter
Size:
21,902 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SIR3_HUMAN, Q9NTG7 (See protein sequence)
Recommended Name: NAD-dependent protein deacetylase sirtuin-3, mitochondrial precursor  
Size: 399 amino acids; 43573 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Interacts with NDUFA9, ACSS1, IDH2 and GDH
Subcellular location: Mitochondrion matrix
Miscellaneous: Has some ability to deacetylate histones in vitro, but seeing its subcellular location, this is unlikely
in vivo
6 PDB 3D structures from and Proteopedia for SIRT3:
3GLR (3D)        3GLS (3D)        3GLT (3D)        3GLU (3D)        4FVT (3D)        4HD8 (3D)    
Secondary accessions: B7Z5U6 Q9Y6E8
Alternative splicing: 2 isoforms:  Q9NTG7-1   Q9NTG7-2   

Explore the universe of human proteins at neXtProt for SIRT3: NX_Q9NTG7

Post-translational modifications:

  • Processed by mitochondrial processing peptidase (MPP) to give a 28 kDa product. Such processing is probably essential
  • for its enzymatic activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NTG7

  • SIRT3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001017524.1  NP_036371.1  

    ENSEMBL proteins: 
     ENSP00000372191   ENSP00000434747   ENSP00000433899   ENSP00000435464   ENSP00000432937  
     ENSP00000433077   ENSP00000437216   ENSP00000435505   ENSP00000437179   ENSP00000435014  
     ENSP00000432857   ENSP00000433132   ENSP00000436085  

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    Novus Biologicals SIRT3 Proteins
    Novus Biologicals SIRT3 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for SIRT3
    Uscn Proteins for SIRT3

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA16079181
    GO:0005759mitochondrial matrix IEA--
    GO:0016020membrane IEA--


    SIRT3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SIRT3


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SIRT3 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR017328 NAD-dep_deAcase_SIR2_class_I
     IPR003000 Sirtuin
     IPR026590 Ssirtuin_cat_dom
     IPR026591 Sirtuin_cat_small_dom

    Graphical View of Domain Structure for InterPro Entry Q9NTG7

    ProtoNet protein and cluster: Q9NTG7

    1 Blocks protein family: IPB003000 Silent information regulator protein Sir2

    UniProtKB/Swiss-Prot: SIR3_HUMAN, Q9NTG7
    Similarity: Belongs to the sirtuin family. Class I subfamily
    Similarity: Contains 1 deacetylase sirtuin-type domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SIR3_HUMAN, Q9NTG7
    Function: NAD-dependent protein deacetylase. Activates mitochondrial target proteins, including ACSS1, IDH2 and GDH by
    deacetylating key lysine residues. Contributes to the regulation of the cellular energy metabolism. Important for
    regulating tissue-specific ATP levels
    Catalytic activity: NAD(+) + an acetylprotein = nicotinamide + O-acetyl-ADP-ribose + a protein
    Biophysicochemical properties: Kinetic parameters: KM=600 uM for NAD;

    Enzyme Number (IUBMB): EC 3.5.1.-1

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    hsa-miR-505 hsa-miR-4291 hsa-miR-3150b-3p hsa-miR-922 hsa-miR-494 hsa-miR-1910 hsa-miR-384
    SwitchGear 3'UTR luciferase reporter plasmidSIRT3 3' UTR sequence
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SIRT3

    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003950NOT NAD+ ADP-ribosyltransferase activity TAS17456799
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IDA19535340
    GO:0016811hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IEA--
    GO:0070403NAD+ binding IEA--


    SIRT3 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for SIRT3: Sirt3tm1.1Fwa Sirt3tm1.1Cxd
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Sirt3):
     adipose tissue  cardiovascular system  cellular  growth/size  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  no phenotypic analysis  normal 

    SIRT3 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1NAD metabolism
    NAD metabolism1.00
    NAD metabolism1.00
    2Non-homologous end-joining
    DNA damage NHEJ mechanisms of DSBs repair0.36
    DNA damage_NHEJ mechanisms of DSBs repair0.36
    3Glucose / Energy Metabolism
    Glucose / Energy Metabolism1.00
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00
    5Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for SIRT3
        NAD metabolism
    Histone modification
    DNA damage NHEJ mechanisms of DSBs repair

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SIRT3
        p53 Signaling
    SUMO Pathway

    2 Cell Signaling Technology (CST) Pathways for SIRT3
        Chromatin Regulation / Acetylation
    Glucose / Energy Metabolism

    2 GeneGo (Thomson Reuters) Pathways for SIRT3
        NAD metabolism
    DNA damage NHEJ mechanisms of DSBs repair

    3 BioSystems Pathways for SIRT3 
        Energy Metabolism
    Signaling events mediated by HDAC Class III
    Signaling events mediated by HDAC Class I



    SIRT3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SIRT3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/113 Interacting proteins for SIRT3 (Q9NTG71, 2, 3 ENSP000003721914) via UniProtKB, MINT, STRING, and/or I2D (see all 113)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5A1P257051, 3, ENSP000002820504EBI-724621,EBI-351437 I2D: score=2 STRING: ENSP00000282050
    ALDH2P050912, 3, ENSP000002617334MINT-8204646 I2D: score=2 STRING: ENSP00000261733
    DNM1LO004293, ENSP000002664814I2D: score=3 STRING: ENSP00000266481
    ATP5BP065763, ENSP000002620304I2D: score=2 STRING: ENSP00000262030
    FOXO3O435243, ENSP000003395274I2D: score=2 STRING: ENSP00000339527
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006471NOT protein ADP-ribosylation TAS17456799
    GO:0006476protein deacetylation IDA16788062
    GO:0009060aerobic respiration IMP--
    GO:0034983peptidyl-lysine deacetylation IMP--


    SIRT3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SIRT3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for SIRT3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SirtinolSelective sirtuin family deacetylase inhibitor[410536-97-9]
    SplitomicinSir2p inhibitor[5690-03-9]

    1 HMDB Compound for SIRT3    About this table
    CompoundSynonyms CAS #PubMed Ids
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--

    1 DrugBank Compound for SIRT3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5-Diphosphoribose-- --target--10592235

    3 Novoseek chemical compound relationships for SIRT3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nicotinamide 63.2 1 16565078 (1)
    nad+ 59.7 5 18722353 (1), 20132432 (1)
    acetyl-coa 52.5 1 16788062 (1)

    Search CenterWatch for drugs/clinical trials and news about SIRT3 / SIR3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SIRT3 gene (2 alternative transcripts): 
    NM_001017524.2  NM_012239.5  

    Unigene Cluster for SIRT3:

    Sirtuin 3
    Hs.716456  [show with all ESTs]
    Unigene Representative Sequence: NM_012239
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000382743(uc001loj.4 uc001lok.4 uc010qvm.2 uc010qvn.2 uc010qvo.2 uc010qvp.2 uc010qvq.2)
    ENST00000529937 ENST00000532837 ENST00000525319 ENST00000524564 ENST00000532956
    ENST00000529382 ENST00000531753 ENST00000526854 ENST00000529055 ENST00000528702(uc009ybt.1)
    ENST00000534381 ENST00000530067 ENST00000528469 ENST00000525776 ENST00000525237


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    Additional cDNA sequence: 

    AF083108.2 AK074992.1 AK298572.1 AK299009.1 AK299438.1 AK301558.1 AK301979.1 AK308681.1 
    AK316175.1 AL137276.1 BC001042.2 

    22 DOTS entries:

    DT.95132400  DT.99932517  DT.100821814  DT.92428394  DT.120712525  DT.100776287  DT.100776280  DT.120712557 
    DT.100776283  DT.101959135  DT.92428397  DT.100821804  DT.120712632  DT.91658555  DT.95132405  DT.102840703 
    DT.120712540  DT.80101208  DT.95132402  DT.101982355  DT.120712684  DT.433861 

    24/192 AceView cDNA sequences (see all 192):

    W95416 AI452877 BQ001375 BC001042 AA021017 BE296573 CR624703 BM671846 
    BQ268413 CR598105 AL543635 CR618015 AW732040 R02109 AI091200 AI492888 
    BU678231 AA016157 BM810987 AA340081 CR592147 BU169171 BM709066 AI445981 

    GeneLoc Exon Structure

    5/15 Alternative Splicing Database (ASD) splice patterns (SP) for SIRT3 (see all 15)    About this scheme

    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:              -     -     -     -                                                                                                                           

    ExUns: 11a · 11b · 11c ^ 12a · 12b
    SP1:              -               
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for SIRT3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SIRT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATACATTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SIRT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SIRT3

    SOURCE GeneReport for Unigene cluster: Hs.716456

    UniProtKB/Swiss-Prot: SIR3_HUMAN, Q9NTG7
    Tissue specificity: Widely expressed

        SABiosciences Expression via Pathway-Focused PCR Array including SIRT3: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for SIRT3 gene from 6/26 species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SIRT31 sirtuin (silent mating type information regulation more 72.96(n)
    76.82(a)
      422988  NM_001199493.1  NP_001186422.1 
    lizard
    (Anolis carolinensis)
    Reptilia SIRT36
    SIRT56
    --
    65(a)
    19(a)
    1 ↔ 1
    possible ortholog
    1(77187790-77192139)
    4(57071927-57080042)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.43072 Xenopus laevis transcribed sequence with weak similarity more 75.2(n)    BU913067.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sirt31 sirtuin (silent mating type information regulation more 66.31(n)
    67.97(a)
      558775  NM_001080174.1  NP_001073643.1 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    23(a)
    possible ortholog
    Group14.3(984618-986135)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria cobB6
    deacetylase of acs and cheY, regulates chemotaxis
    23(a)
    possible ortholog
    Chromosome(1178854-1179582) b1120


    ENSEMBL Gene Tree for SIRT3 (if available)
    TreeFam Gene Tree for SIRT3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SIRT3 gene
    SIRT22  SIRT42  SIRT52  
    4 SIMAP similar genes for SIRT3 using alignment to 10 protein entries:     SIR3_HUMAN (see all proteins):
    SIRT2    SIRT1    SIR2    SIRT4

    SIRT3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/720 NCBI SNPs in SIRT3 are shown (see all 720    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs100811,2
    C,F,A,H,--214544(-) AGACCG/ATTGCA 3 -- int1 ut3122Minor allele frequency- A:0.34MN NS EA NA WA CSA 4207
    rs1916215561,2
    --214638(+) AGCTGC/TTGCCT 3 -- ut31 int10--------
    rs5008401,2
    C,F,A,H,--214716(-) GCTTGC/TTTTGT 3 -- int1 ut315Minor allele frequency- T:0.10MN NA 312
    rs1839242281,2
    --214878(+) TGAGCA/GCAGGG 3 -- ut31 int10--------
    rs1387960241,2
    C,--214902(+) AGACA-/TTCTCC 3 -- int1 ut310--------
    rs1865101491,2
    C,--215012(+) CAACAA/GGGAAA 3 -- int1 ut310--------
    rs1911553731,2
    C,--215045(+) TTGAGA/CTTTAT 3 -- ut310--------
    rs1822474801,2
    --215072(+) AGCCAC/GAGAAA 3 -- ut310--------
    rs1869577311,2
    --215340(+) GGAGGC/TGGAAG 3 -- int1 ut310--------
    rs1929129291,2
    C,--215354(+) CAGTGA/GGCTGA 3 -- int1 ut310--------

    HapMap Linkage Disequilibrium report for SIRT3 (215030 - 236931 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for SIRT3
         2 CNVs: 71209 6912
         3 Indels: 24692 44860 24691
    Human Gene Mutation Database (HGMD): SIRT3

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SIRT3 for disorders           About GeneDecksing

    OMIM gene information: 604481    OMIM disorders: --

    9 diseases for SIRT3:    About MalaCards
    diffuse large b-cell lymphoma    b-cell lymphomas    uterine fibroid    diabetes mellitus
    breast cancer    hypoxia    tuberculosis    hepatitis
    mycobacterium tuberculosis

    1 Novoseek disease relationship for SIRT3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 1 20159966 (1)

    Genetic Association Database (GAD): SIRT3
    Human Genome Epidemiology (HuGE) Navigator: SIRT3 (9 documents)

    Export disorders for SIRT3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SIRT3 gene, integrated from 9 sources (see all 79):
    (articles sorted by number of sources associating them with SIRT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human SIRT3 protein deacetylase is exclusively mitochondrial. (PubMed id 18215119)1, 2, 3 Cooper H.M. and Spelbrink J.N. (2008)
    2. Characterization of five human cDNAs with homology to the yeast SIR2 gene: Sir2-like proteins (sirtuins) metabolize NAD and may have protein ADP-ribosyltransferase activity. (PubMed id 10381378)1, 2, 3 Frye R.A. (1999)
    3. The human silent information regulator (Sir)2 homologue hSIRT3 is a mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase. (PubMed id 12186850)1, 2, 9 Schwer B.... Verdin E. (2002)
    4. Substrates and regulation mechanisms for the human mitochondrial sirtuins Sirt3 and Sirt5. (PubMed id 18680753)1, 2, 9 Schlicker C....Steegborn C. (2008)
    5. A novel VNTR enhancer within the SIRT3 gene, a human homologue of SIR2, is associated with survival at oldest ages. (PubMed id 15676284)1, 4, 9 Bellizzi D....De Benedictis G. (2005)
    6. Reversible lysine acetylation controls the activity of the mitochondrial enzyme acetyl-CoA synthetase 2. (PubMed id 16788062)1, 2, 9 Schwer B.... Verdin E. (2006)
    7. Crystal structures of human SIRT3 displaying substrate-induced conformational changes. (PubMed id 19535340)1, 2 Jin L.... Perni R.B. (2009)
    8. Evolutionarily conserved and nonconserved cellular localizations and functions of human SIRT proteins. (PubMed id 16079181)1, 2 Michishita E.... Horikawa I. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. SIRT3, a human SIR2 homologue, is an NAD-dependent deacetylase localized to mitochondria. (PubMed id 12374852)1, 2 Onyango P.... Feinberg A.P. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23410 HGNC: 14931 AceView: SIRT3 Ensembl:ENSG00000142082 euGenes: HUgn23410
    ECgene: SIRT3 H-InvDB: SIRT3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SIRT3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SIRT3 gene:
    Search GeneIP for patents involving SIRT3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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