SIRT1

Gene Information
 
Gene Symbol
SIRT1
 
Aliases
SIR2, SIR2L1, SIR2alpha
 
Entrez Gene ID
 
Gene Name
Sirtuin 1
 
Chromosomal Location
10q21.3
 
HGNC ID
 
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0000012 Biological process Single strand break repair IMP 20097625
GO:0000122 Biological process Negative regulation of transcription by RNA polymerase II IDA 12535671, 15692560, 20955178
GO:0000122 Biological process Negative regulation of transcription by RNA polymerase II IMP 21947282
GO:0000183 Biological process Chromatin silencing at rDNA IDA 18485871
GO:0000720 Biological process Pyrimidine dimer repair by nucleotide-excision repair IMP 21149730
Protein Information
 
Protein Name
NAD-dependent protein deacetylase sirtuin-1, SIR2-like protein 1, regulatory protein SIR2 homolog 1, sirtuin type 1
 
Function
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF02146 SIR2
Pathways
 
KEGG
 
Reactome
 

FoxO signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Cellular senescence
Glucagon signaling pathway
Amphetamine addiction
MicroRNAs in cancer

 

Regulation of HSF1-mediated heat shock response
SIRT1 negatively regulates rRNA expression
Regulation of FOXO transcriptional activity by acetylation

Interactions
 
STRING MINT IntAct
ENSP00000364270 P23025 P23025
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Failure
Atherosclerosis
Heart Diseases
Myocardial Failure
Digestive System Diseases
Fatty Liver
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
ARNTL 
PCOS 
 
Rotterdam consensus criteria 
Direct 
48 women: 24 women diagnosed as PCOS undertaking IVF-ET & 24 Healthy women(non PCOS group) 
Our results demonstrate the effects of BMAL1 on estrogen synthesis in hGCs and suggest a BMAL1-SIRT1-JNK positive feedback cycle in this process, which points out an important role of BMAL1 in the development of PCOS. 

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