Human Gene SIRT1 (ENST00000432464.5) from GENCODE V41
  Description: Homo sapiens sirtuin 1 (SIRT1), transcript variant 2, mRNA. (from RefSeq NM_001142498)
RefSeq Summary (NM_001142498): 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].
Gencode Transcript: ENST00000432464.5
Gencode Gene: ENSG00000096717.12
Transcript (Including UTRs)
   Position: hg38 chr10:67,885,181-67,918,389 Size: 33,209 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr10:67,891,498-67,916,593 Size: 25,096 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:67,885,181-67,918,389)mRNA (may differ from genome)Protein (452 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMGIOMIMPubMedUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: E9PC49_HUMAN
DESCRIPTION: SubName: Full=NAD-dependent protein deacetylase sirtuin-1;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  MalaCards Disease Associations
  MalaCards Gene Search: SIRT1
Diseases sorted by gene-association score: xeroderma pigmentosum, group d (6), ovarian endodermal sinus tumor (4), ovarian primitive germ cell tumor (4), hiv-1 (2), diabetes mellitus, noninsulin-dependent (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.51 RPKM in Testis
Total median expression: 319.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -160.80432-0.372 Picture PostScript Text
3' UTR -382.001796-0.213 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003000 - Sirtuin
IPR026590 - Ssirtuin_cat_dom

Pfam Domains:
PF02146 - Sir2 family

ModBase Predicted Comparative 3D Structure on E9PC49
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0070403 NAD+ binding

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF083106 - Homo sapiens sirtuin type 1 (SIRT1) mRNA, complete cds.
AF235040 - Homo sapiens SIR2alpha protein (SIR2ALPHA) mRNA, complete cds.
AL136741 - Homo sapiens mRNA; cDNA DKFZp434F1411 (from clone DKFZp434F1411).
BC012499 - Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae), mRNA (cDNA clone MGC:21066 IMAGE:4518906), complete cds.
AK289743 - Homo sapiens cDNA FLJ76335 complete cds, highly similar to Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae), mRNA.
CU680344 - Synthetic construct Homo sapiens gateway clone IMAGE:100019856 5' read SIRT1 mRNA.
JQ768366 - Homo sapiens sirtuin 1 (SIRT1) mRNA, partial cds.
KJ904690 - Synthetic construct Homo sapiens clone ccsbBroadEn_14084 SIRT1 gene, encodes complete protein.
AK074805 - Homo sapiens cDNA FLJ90324 fis, clone NT2RP2001817, highly similar to NAD-dependent deacetylase sirtuin-1 (EC 3.5.1.-).
AK027686 - Homo sapiens cDNA FLJ14780 fis, clone NT2RP4000449, highly similar to NAD-dependent deacetylase sirtuin-1 (EC 3.5.1.-).
BX648554 - Homo sapiens mRNA; cDNA DKFZp779P1254 (from clone DKFZp779P1254).
JD535927 - Sequence 516951 from Patent EP1572962.
JD308335 - Sequence 289359 from Patent EP1572962.
JD283982 - Sequence 265006 from Patent EP1572962.
JD204954 - Sequence 185978 from Patent EP1572962.
JD410621 - Sequence 391645 from Patent EP1572962.
JD524101 - Sequence 505125 from Patent EP1572962.
JD146754 - Sequence 127778 from Patent EP1572962.
JD516118 - Sequence 497142 from Patent EP1572962.
JD562293 - Sequence 543317 from Patent EP1572962.
JD328576 - Sequence 309600 from Patent EP1572962.
JD333445 - Sequence 314469 from Patent EP1572962.
JD553821 - Sequence 534845 from Patent EP1572962.
JD330377 - Sequence 311401 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_pmlPathway - Regulation of transcriptional activity by PML

-  Other Names for This Gene
  Alternate Gene Symbols: E9PC49, E9PC49_HUMAN, ENST00000432464.1, ENST00000432464.2, ENST00000432464.3, ENST00000432464.4, NM_001142498, uc010qis.1, uc010qis.2, uc010qis.3
UCSC ID: ENST00000432464.5
RefSeq Accession: NM_001142498
Protein: E9PC49 CCDS: CCDS81469.1, CCDS44412.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.