Human Gene SIRT7 (uc002kcj.2)
  Description: Homo sapiens sirtuin 7 (SIRT7), mRNA.
RefSeq Summary (NM_016538): 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].
Transcript (Including UTRs)
   Position: hg19 chr17:79,869,815-79,876,058 Size: 6,244 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr17:79,870,292-79,876,007 Size: 5,716 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:79,869,815-79,876,058)mRNA (may differ from genome)Protein (400 aa)
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neXtProtOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SIR7_HUMAN
DESCRIPTION: RecName: Full=NAD-dependent protein deacetylase sirtuin-7; EC=3.5.1.-; AltName: Full=Regulatory protein SIR2 homolog 7; AltName: Full=SIR2-like protein 7;
FUNCTION: NAD-dependent protein deacetylase that specifically mediates deacetylation of histone H3 at 'Lys-18' (H3K18Ac). In contrast to other histone deacetylases, displays selectivity for a single histone mark, H3K18Ac, directly linked to control of gene expression. H3K18Ac is mainly present around the transcription start site of genes and has been linked to activation of nuclear hormone receptors. SIRT7 thereby acts as a transcription repressor. Moreover, H3K18 hypoacetylation has been reported as a marker of malignancy in various cancers and seems to maintain the transformed phenotype of cancer cells. These data suggest that SIRT7 may play a key role in oncogenic transformation by suppresses expression of tumor suppressor genes by locus-specific deacetylation of H3K18Ac at promoter regions. Also required to restore the transcription of ribosomal RNA (rRNA) at the exit from mitosis: promotes the association of RNA polymerase I with the rDNA promoter region and coding region. Stimulates transcription activity of the RNA polymerase I complex. May also deacetylate p53/TP53 and promotes cell survival, however such data need additional confirmation.
CATALYTIC ACTIVITY: NAD(+) + an acetylprotein = nicotinamide + O- acetyl-ADP-ribose + a protein.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SUBUNIT: Interacts with UBTF and the RNA polymerase I complex. Interacts with components of the B-WICH complex, such as MYBBP1A, SMARCA5/SNF2H and BAZ1B/WSTF. Interacts with ELK4, leading to stabilization at target promoters for H3K18Ac deacetylation. Interacts with histone H2A and/or histone H2B.
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Located close to the nuclear membrane when in the cytoplasm. Associated with chromatin. Associated with rDNA promoter and transcribed region. Associated with nucleolar organizer regions during mitosis.
PTM: Phosphorylated during mitosis (Probable).
MISCELLANEOUS: Overexpressed in human thyroid carcinoma cell lines and tissues, but not in adenomas.
SIMILARITY: Belongs to the sirtuin family. Class IV subfamily.
SIMILARITY: Contains 1 deacetylase sirtuin-type domain.
CAUTION: Was originally (PubMed:11953824) termed SIR-T8/SIRT8. This was later retracted (PubMed:12454780). See also PubMed:12454781.
SEQUENCE CAUTION: Sequence=CAB70848.2; Type=Miscellaneous discrepancy;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 34.46 RPKM in Esophagus - Mucosa
Total median expression: 613.42 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -17.5051-0.343 Picture PostScript Text
3' UTR -184.60477-0.387 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

SCOP Domains:
52467 - DHS-like NAD/FAD-binding domain

ModBase Predicted Comparative 3D Structure on Q9NRC8
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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
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding
GO:0070403 NAD+ binding
GO:0097372 NAD-dependent histone deacetylase activity (H3-K18 specific)

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007072 positive regulation of transcription involved in exit from mitosis
GO:0009303 rRNA transcription
GO:0070932 histone H3 deacetylation
GO:0070933 histone H4 deacetylation

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005731 nucleolus organizer region
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  JD296628 - Sequence 277652 from Patent EP1572962.
AK131484 - Homo sapiens cDNA FLJ16662 fis, clone TESTI4046240.
AK131437 - Homo sapiens cDNA FLJ16567 fis, clone TBAES2000932.
BC017305 - Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae), mRNA (cDNA clone MGC:29505 IMAGE:5087554), complete cds.
AK002027 - Homo sapiens cDNA FLJ11165 fis, clone PLACE1007238.
AF233395 - Homo sapiens sir2-related protein type 7 (SIRT7) mRNA, complete cds.
AK094326 - Homo sapiens cDNA FLJ37007 fis, clone BRACE2009620, highly similar to NAD-dependent deacetylase sirtuin-7 (EC 3.5.1.-).
AL137626 - Homo sapiens mRNA; cDNA DKFZp434O0712 (from clone DKFZp434O0712).
AK290265 - Homo sapiens cDNA FLJ76241 complete cds, highly similar to Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) (SIRT7), mRNA.
JD264112 - Sequence 245136 from Patent EP1572962.
JD262973 - Sequence 243997 from Patent EP1572962.
BC101793 - Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae), mRNA (cDNA clone MGC:126842 IMAGE:8069299), complete cds.
BC101791 - Homo sapiens sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae), mRNA (cDNA clone MGC:126840 IMAGE:8069297), complete cds.
KJ898920 - Synthetic construct Homo sapiens clone ccsbBroadEn_08314 SIRT7 gene, encodes complete protein.
DQ892354 - Synthetic construct clone IMAGE:100004984; FLH188239.01X; RZPDo839A0373D sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) (SIRT7) gene, encodes complete protein.
DQ895561 - Synthetic construct Homo sapiens clone IMAGE:100010021; FLH188235.01L; RZPDo839A0363D sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae) (SIRT7) gene, encodes complete protein.
AB590266 - Synthetic construct DNA, clone: pFN21AE0497, Homo sapiens SIRT7 gene for sirtuin (silent mating type information regulation 2 homolog) 7, without stop codon, in Flexi system.
CU677903 - Synthetic construct Homo sapiens gateway clone IMAGE:100019240 5' read SIRT7 mRNA.
JD141274 - Sequence 122298 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2K0, B3KSU8, NM_016538, NP_057622, Q3MIK4, Q9NRC8, Q9NSZ6, Q9NUS6, SIR2L7, SIR7_HUMAN
UCSC ID: uc002kcj.2
RefSeq Accession: NM_016538
Protein: Q9NRC8 (aka SIR7_HUMAN)
CCDS: CCDS11792.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016538.2
exon count: 10CDS single in 3' UTR: no RNA size: 1749
ORF size: 1203CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2606.00frame shift in genome: no % Coverage: 98.97
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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