Gene Gene information from NCBI Gene database.
Entrez ID 23411
Gene name Sirtuin 1
Gene symbol SIRT1
Synonyms (NCBI Gene)
SIR2SIR2L1SIR2alpha
Chromosome 10
Chromosome location 10q21.3
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 det
miRNA miRNA information provided by mirtarbase database.
364
miRTarBase ID miRNA Experiments Reference
MIRT002098 hsa-miR-34a-5p Western blot 18834855
MIRT002098 hsa-miR-34a-5p Western blotLuciferase reporter assayNorthern blot 18755897
MIRT002098 hsa-miR-34a-5p Western blotLuciferase reporter assayNorthern blot 18755897
MIRT002098 hsa-miR-34a-5p qRT-PCRLuciferase reporter assayWestern blot 18834855
MIRT002098 hsa-miR-34a-5p ReviewLuciferase reporter assay 19461653
Transcription factors Transcription factors information provided by TRRUST V2 database.
12
Transcription factor Regulation Reference
ATF4 Activation 22363646
ATF4 Repression 21801305
BRCA1 Activation 18851829;20160719;21407215;9000507
CIITA Repression 22064865
DDIT3 Repression 21801305
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
277
GO ID Ontology Definition Evidence Reference
GO:0000012 Process Single strand break repair IMP 20097625
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 11672523, 12535671, 15692560, 20955178
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 17505061, 20203304, 21947282
GO:0000183 Process RDNA heterochromatin formation IDA 18485871
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604479 14929 ENSG00000096717
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96EB6
Protein name NAD-dependent protein deacetylase sirtuin-1 (hSIRT1) (EC 2.3.1.286) (NAD-dependent protein deacylase sirtuin-1) (EC 2.3.1.-) (Regulatory protein SIR2 homolog 1) (SIR2-like protein 1) (hSIR2) [Cleaved into: SirtT1 75 kDa fragment (75SirT1)]
Protein function NAD-dependent protein deacetylase that links transcriptional regulation directly to intracellular energetics and participates in the coordination of several separated cellular functions such as cell cycle, response to DNA damage, metabolism, apo
PDB 4I5I , 4IF6 , 4IG9 , 4KXQ , 4ZZH , 4ZZI , 4ZZJ , 5BTR , 8ANB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02146 SIR2 261 447 Sir2 family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10381378}.
Sequence
MADEAALALQPGGSPSAAGADREAASSPAGEPLRKRPRRDGPGLERSPGEPGGAAPEREV
PAAARGCPGAAAAALWREAEAEAAAAGGEQEAQATAAAGEGDNGPGLQGPSREPPLADNL
YDEDDDDEGEEEEEAAAAAIGYRDNLLFGDEIITNGFHSCESDEEDRASHASSSDWTPRP
RIGPYTFVQQHLMIGTDPRTILKDLLPETIPPPELDDMTLWQIVINILSEPPKRKKRKDI
NTIEDAVKLLQECKKIIVLTGAGVSVSCGIPDFRSRDGIYARLAVDFPDLPDPQAMFDIE
YFRKDPRPFFKFAKEIYPGQFQPSLCHKFIALSDKEGKLLRNYTQNIDTLEQVAGIQRII
QCHGSFATASCLICKYKVDCEAVRGDIFNQVVPRCPRCPADEPLAIMKPEIVFFGENLPE
QFHRAMKYDKDEVDLLIVIGSSLKVRP
VALIPSSIPHEVPQILINREPLPHLHFDVELLG
DCDVIINELCHRLGGEYAKLCCNPVKLSEITEKPPRTQKELAYLSELPPTPLHVSEDSSS
PERTSPPDSSVIVTLLDQAAKSNDDLDVSESKGCMEEKPQEVQTSRNVESIAEQMENPDL
KNVGSSTGEKNERTSVAGTVRKCWPNRVAKEQISRRLDGNQYLFLPPNRYIFHGAEVYSD
SEDDVLSSSSCGSNSDSGTCQSPSLEEPMEDESEIEEFYNGLEDEPDVPERAGGAGFGTD
GDDQEAINEAISVKQEVTDMNYPSNKS
Sequence length 747
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Nicotinate and nicotinamide metabolism
Metabolic pathways
FoxO signaling pathway
Efferocytosis
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Cellular senescence
Wnt signaling pathway
Glucagon signaling pathway
Alcoholic liver disease
Amphetamine addiction
MicroRNAs in cancer
  Regulation of HSF1-mediated heat shock response
SIRT1 negatively regulates rRNA expression
Regulation of FOXO transcriptional activity by acetylation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Sarcoma Uncertain significance rs531048058 RCV005928783
SIRT1-related disorder Uncertain significance; Benign; Likely benign rs201230502, rs182199697, rs550317521, rs548590752, rs199626380, rs550763057, rs36062014, rs983336735, rs144124002 RCV003923416
RCV003933645
RCV003958554
RCV003913532
RCV003943761
RCV003926511
RCV003966487
RCV003959077
RCV003925827
Variant of unknown significance Uncertain significance rs587776957 RCV000041965
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 30158377
Acute Coronary Syndrome Inhibit 23382833, 25342474
Acute Coronary Syndrome Associate 25342474
Acute Kidney Injury Inhibit 30980521
Acute Kidney Injury Associate 38062807
Acute Lung Injury Associate 25972997, 35853732
Adenocarcinoma Associate 19649206, 25915617, 33341453
Adenocarcinoma of Lung Associate 19649206, 30841451, 37898426
Adrenal Cortex Neoplasms Associate 33650791
Aging Premature Associate 35811457, 38004107