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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
54
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 17180656
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 30544370
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 25342474
★☆☆☆☆
Found in Text Mining only
Acute Kidney Insufficiency Acute Kidney Insufficiency CTD_human_DG 21416250
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 24504520
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 25884180, 26416354, 31809874
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28592850, 31055719
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17638871, 19433578, 19649206, 24816737, 25915617, 27540973, 28390310, 29599352, 30252536, 31487876
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31058315
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 22554968, 24816737
★☆☆☆☆
Found in Text Mining only