SIRT4 Gene (Protein Coding)

Sirtuin 4

GC12P120291
GIFtS:
40
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. ... See more...

Aliases for SIRT4 Gene

Aliases for SIRT4 Gene

  • Sirtuin 4 2 3 5
  • NAD-Dependent Protein Lipoamidase Sirtuin-4, Mitochondrial 3 4
  • NAD-Dependent ADP-Ribosyltransferase Sirtuin-4 3 4
  • NAD-Dependent Protein Deacetylase Sirtuin-4 3 4
  • Regulatory Protein SIR2 Homolog 4 3 4
  • SIR2-Like Protein 4 3 4
  • SIR2L4 3 4
  • Sirtuin (Silent Mating Type Information Regulation 2, S. Cerevisiae, Homolog) 4 2
  • Sirtuin (Silent Mating Type Information Regulation 2 Homolog) 4 (S. Cerevisiae) 2
  • Sirtuin Type 4 3
  • Sir2-Like 4 3
  • EC 3.5.1.- 4
  • EC 2.4.2.- 4

External Ids for SIRT4 Gene

Previous GeneCards Identifiers for SIRT4 Gene

  • GC12P119613
  • GC12P120266
  • GC12P120522
  • GC12P119152
  • GC12P119203
  • GC12P120740
  • GC12P117748

Summaries for SIRT4 Gene

Entrez Gene Summary for SIRT4 Gene

  • 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 IV of the sirtuin family. [provided by RefSeq, Jul 2008]

GeneCards Summary for SIRT4 Gene

SIRT4 (Sirtuin 4) is a Protein Coding gene. Among its related pathways are NAD metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include NAD+ ADP-ribosyltransferase activity and NAD-dependent protein deacetylase activity. An important paralog of this gene is SIRT5.

UniProtKB/Swiss-Prot Summary for SIRT4 Gene

  • Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner (PubMed:25525879). Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitochondrial glutamine metabolism by mediating mono ADP-ribosylation of GLUD1: expressed in response to DNA damage and negatively regulates anaplerosis by inhibiting GLUD1, leading to block metabolism of glutamine into tricarboxylic acid cycle and promoting cell cycle arrest (PubMed:16959573, PubMed:17715127). In response to mTORC1 signal, SIRT4 expression is repressed, promoting anaplerosis and cell proliferation. Acts as a tumor suppressor (PubMed:23562301, PubMed:23663782). Also acts as a NAD-dependent protein deacetylase: mediates deacetylation of 'Lys-471' of MLYCD, inhibiting its activity, thereby acting as a regulator of lipid homeostasis (By similarity). Does not seem to deacetylate PC (PubMed:23438705). Controls fatty acid oxidation by inhibiting PPARA transcriptional activation. Impairs SIRT1:PPARA interaction probably through the regulation of NAD(+) levels (PubMed:24043310). Down-regulates insulin secretion.

Tocris Summary for SIRT4 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 SIRT4 Gene

Additional gene information for SIRT4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SIRT4 Gene

Genomics for SIRT4 Gene

GeneHancer (GH) Regulatory Elements for SIRT4 Gene

Promoters and enhancers for SIRT4 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 SIRT4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SIRT4 gene promoter:
  • ATF-2
  • c-Jun
  • c-Myb
  • FOXJ2
  • FOXJ2 (long isoform)
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT1
  • STAT3

Genomic Locations for SIRT4 Gene

Genomic Locations for SIRT4 Gene
chr12:120,292,199-120,313,249
(GRCh38/hg38)
Size:
21,051 bases
Orientation:
Plus strand
chr12:120,740,119-120,751,052
(GRCh37/hg19)
Size:
10,934 bases
Orientation:
Plus strand

Genomic View for SIRT4 Gene

Genes around SIRT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIRT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIRT4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SIRT4 Gene

Proteins for SIRT4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SIRT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6E7-SIR4_HUMAN
    Recommended name:
    NAD-dependent protein lipoamidase sirtuin-4, mitochondrial
    Protein Accession:
    Q9Y6E7
    Secondary Accessions:
    • O43346
    • Q32M33

    Protein attributes for SIRT4 Gene

    Size:
    314 amino acids
    Molecular mass:
    35188 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts with GLUD1, IDE and SLC25A5 (PubMed:16959573, PubMed:17715127). Interacts with DLAT and PDHX (PubMed:25525879). Interacts with MCCC1 (via the biotin carboxylation domain) (PubMed:23438705). Interacts with PCCA and PC (PubMed:23438705).
    Miscellaneous:
    • Expression is down-regulated in a number of cancers, while overexpression reduces cell proliferation, transformation, and tumor development (PubMed:23562301, PubMed:23663782).
    • According to some authors, ADP-ribosyltransferase activity of sirtuins may be an inefficient side reaction of the deacetylase activity and may not be physiologically relevant.
    SequenceCaution:
    • Sequence=AAB95634.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for SIRT4 Gene

Post-translational modifications for SIRT4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SIRT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SIRT4
  • Boster Bio Antibodies for SIRT4

No data available for DME Specific Peptides for SIRT4 Gene

Domains & Families for SIRT4 Gene

Gene Families for SIRT4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for SIRT4 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SIRT4 Gene

GenScript: Design optimal peptide antigens:
  • SIR2-like protein 4 (SIRT4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y6E7

UniProtKB/Swiss-Prot:

SIR4_HUMAN :
  • Belongs to the sirtuin family. Class II subfamily.
Family:
  • Belongs to the sirtuin family. Class II subfamily.
genes like me logo Genes that share domains with SIRT4: view

Function for SIRT4 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SIRT4 Gene

UniProtKB/Swiss-Prot Function:
Acts as NAD-dependent protein lipoamidase, ADP-ribosyl transferase and deacetylase. Catalyzes more efficiently removal of lipoyl- and biotinyl- than acetyl-lysine modifications. Inhibits the pyruvate dehydrogenase complex (PDH) activity via the enzymatic hydrolysis of the lipoamide cofactor from the E2 component, DLAT, in a phosphorylation-independent manner (PubMed:25525879). Catalyzes the transfer of ADP-ribosyl groups onto target proteins, including mitochondrial GLUD1, inhibiting GLUD1 enzyme activity. Acts as a negative regulator of mitochondrial glutamine metabolism by mediating mono ADP-ribosylation of GLUD1: expressed in response to DNA damage and negatively regulates anaplerosis by inhibiting GLUD1, leading to block metabolism of glutamine into tricarboxylic acid cycle and promoting cell cycle arrest (PubMed:16959573, PubMed:17715127). In response to mTORC1 signal, SIRT4 expression is repressed, promoting anaplerosis and cell proliferation. Acts as a tumor suppressor (PubMed:23562301, PubMed:23663782). Also acts as a NAD-dependent protein deacetylase: mediates deacetylation of 'Lys-471' of MLYCD, inhibiting its activity, thereby acting as a regulator of lipid homeostasis (By similarity). Does not seem to deacetylate PC (PubMed:23438705). Controls fatty acid oxidation by inhibiting PPARA transcriptional activation. Impairs SIRT1:PPARA interaction probably through the regulation of NAD(+) levels (PubMed:24043310). Down-regulates insulin secretion.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-cysteinyl-[protein] + NAD(+) = H(+) + nicotinamide + S-(ADP-D-ribosyl)-L-cysteinyl-[protein]; Xref=Rhea:RHEA:56612, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:14624, ChEBI:CHEBI:15378, ChEBI:CHEBI:17154, ChEBI:CHEBI:29950, ChEBI:CHEBI:57540, ChEBI:CHEBI:140607; Evidence=. ;.
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; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=719 uM for a peptide of H3 biotinylated at 'Lys-9' {ECO:0000269 PubMed:25525879}; KM=814 uM for a peptide of H3 lipoylated at 'Lys-9' {ECO:0000269 PubMed:25525879}; KM=239 uM for a peptide of DLAT lipoylated at 'Lys-259' {ECO:0000269 PubMed:25525879}; Note=kcat is 0.0019 sec(-1) for the delipoylation of H3 'Lys-9'. kcat is 0.0005 sec(-1) for the debiotinylation of H3 'Lys-9'. kcat is 0.0018 sec(-1) for the delipoylation of DLAT 'Lys-259'. {ECO:0000269 PubMed:25525879};
UniProtKB/Swiss-Prot Induction:
Induced by glutamine (at protein level).

Enzyme Numbers (IUBMB) for SIRT4 Gene

Phenotypes From GWAS Catalog for SIRT4 Gene

Gene Ontology (GO) - Molecular Function for SIRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003950 NAD+ ADP-ribosyltransferase activity TAS 17456799
GO:0005515 protein binding IPI 16959573
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with SIRT4: view
genes like me logo Genes that share phenotypes with SIRT4: view

Animal Models for SIRT4 Gene

MGI Knock Outs for SIRT4:
  • Sirt4 Sirt4<tm1b(EUCOMM)Hmgu>
  • Sirt4 Sirt4<tm1Fwa>

Animal Model Products

  • Taconic Biosciences Mouse Models for SIRT4

CRISPR Products

Clone Products

  • Addgene plasmids for SIRT4

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIRT4 Gene

Localization for SIRT4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIRT4 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 SIRT4 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SIRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 16079181
GO:0005743 mitochondrial inner membrane IEA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with SIRT4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SIRT4 Gene

Pathways & Interactions for SIRT4 Gene

genes like me logo Genes that share pathways with SIRT4: view

Pathways by source for SIRT4 Gene

1 Sino Biological pathway for SIRT4 Gene
2 GeneGo (Thomson Reuters) pathways for SIRT4 Gene
2 Qiagen pathways for SIRT4 Gene
  • p53 Signaling
  • SUMO Pathway

Gene Ontology (GO) - Biological Process for SIRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000820 regulation of glutamine family amino acid metabolic process IEA --
GO:0006342 chromatin silencing TAS 10381378
GO:0006471 protein ADP-ribosylation TAS,ISS 17456799
GO:0006476 protein deacetylation IEA --
GO:0006541 glutamine metabolic process IEA,ISS --
genes like me logo Genes that share ontologies with SIRT4: view

No data available for SIGNOR curated interactions for SIRT4 Gene

Drugs & Compounds for SIRT4 Gene

Products:

  1. Drug

(6) Drugs for SIRT4 Gene - From: ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Panobinostat Approved, Investigational Pharma Inhibition, inhibitor Histone deacetylase (HDAC)inhibitors 140
Nicotinamide Approved, Investigational Pharma 519,519
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Splitomicin Pharma Sir2p inhibitor 0
AGK 2 Pharma Selective SIRT2 inhibitor 0

(3) Additional Compounds for SIRT4 Gene - From: HMDB and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
O-acetyl-ADP-ribose
EX 527
49843-98-3
YK 3-237
1215281-19-8

(5) Tocris Compounds for SIRT4 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

(1) ApexBio Compounds for SIRT4 Gene

Compound Action Cas Number
Splitomicin 5690-03-9
genes like me logo Genes that share compounds with SIRT4: view

Transcripts for SIRT4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SIRT4 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(27) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SIRT4

Alternative Splicing Database (ASD) splice patterns (SP) for SIRT4 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b
SP1:
SP2: -
SP3:
SP4: -

Relevant External Links for SIRT4 Gene

GeneLoc Exon Structure for
SIRT4
ECgene alternative splicing isoforms for
SIRT4

Expression for SIRT4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SIRT4 Gene

mRNA expression in normal human tissues for SIRT4 Gene
mRNA expression by GTEx for SIRT4 GenemRNA expression by BioGPS for SIRT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of SIRT4 Gene:

SIRT4

SOURCE GeneReport for Unigene cluster for SIRT4 Gene:

Hs.50861

mRNA Expression by UniProt/SwissProt for SIRT4 Gene:

Q9Y6E7-SIR4_HUMAN
Tissue specificity: Detected in vascular smooth muscle and striated muscle. Detected in insulin-producing beta-cells in pancreas islets of Langerhans (at protein level). Widely expressed. Weakly expressed in leukocytes and fetal thymus.
genes like me logo Genes that share expression patterns with SIRT4: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SIRT4 Gene

Orthologs for SIRT4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SIRT4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SIRT4 33 32
  • 99.58 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SIRT4 33 32
  • 88.39 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SIRT4 33 32
  • 88 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Sirt4 17 33 32
  • 83.23 (n)
rat
(Rattus norvegicus)
 Mammalia Sirt4 32
  • 82.58 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SIRT4 33
  • 69 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SIRT4 33 32
  • 73.33 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SIRT4 33
  • 61 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia sirt4 32
  • 62.37 (n)
Str.4552 32
zebrafish
(Danio rerio)
 Actinopterygii sirt4 33 32
  • 64.22 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP013148 32
  • 52.67 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Sirt4 33 32
  • 51.67 (n)
 OneToOne
CG3187 34
  • 49 (a)
worm
(Caenorhabditis elegans)
 Secernentea sir-2.2 33 34 32
  • 50.78 (n)
 OneToMany
sir-2.3 33 34
  • 42 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes HST1 33
  • 13 (a)
 ManyToMany
SIR2 33
  • 11 (a)
 ManyToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons SRT2 32
  • 50.61 (n)
rice
(Oryza sativa)
 Liliopsida Os12g0179800 32
  • 50.54 (n)
Species where no ortholog for SIRT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SIRT4 Gene

ENSEMBL:
Gene Tree for SIRT4 (if available)
TreeFam:
Gene Tree for SIRT4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SIRT4: view image

Paralogs for SIRT4 Gene

Paralogs for SIRT4 Gene

genes like me logo Genes that share paralogs with SIRT4: view

Variants for SIRT4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SIRT4 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000114305 -- 120,291,906(+) A/C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000241736 -- 120,291,202(+) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000250371 -- 120,302,494(+) T/C intron_variant
rs1000295953 -- 120,310,154(+) G/T intron_variant
rs1000421232 -- 120,308,586(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SIRT4 Gene

Variant ID Type Subtype PubMed ID
esv2763006 CNV loss 21179565
esv3549882 CNV deletion 23714750
esv3630921 CNV loss 21293372
nsv518764 CNV loss 19592680
nsv560435 CNV loss 21841781
nsv832530 CNV loss 17160897

Variation tolerance for SIRT4 Gene

Residual Variation Intolerance Score: 43.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SIRT4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SIRT4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIRT4 Gene

Disorders for SIRT4 Gene

Additional Disease Information for SIRT4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SIRT4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SIRT4 Gene

Publications for SIRT4 Gene

  1. Regulation of insulin secretion by SIRT4, a mitochondrial ADP-ribosyltransferase. (PMID: 17715127) Ahuja N … Verdin E (The Journal of biological chemistry 2007) 3 4 23 56
  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. (PMID: 10381378) Frye RA (Biochemical and biophysical research communications 1999) 2 3 4 56
  3. Sirtuin 4 is a lipoamidase regulating pyruvate dehydrogenase complex activity. (PMID: 25525879) Mathias RA … Cristea IM (Cell 2014) 3 4 56
  4. SIRT4 represses peroxisome proliferator-activated receptor α activity to suppress hepatic fat oxidation. (PMID: 24043310) Laurent G … Haigis MC (Molecular and cellular biology 2013) 3 4 56
  5. The mTORC1 pathway stimulates glutamine metabolism and cell proliferation by repressing SIRT4. (PMID: 23663782) Csibi A … Blenis J (Cell 2013) 3 4 56

ExternalLinks

View latest publications for SIRT4 gene in Mastermind

Products for SIRT4 Gene

  • Addgene plasmids for SIRT4

Sources for SIRT4 Gene