SIRT7: Sirtuin 7 – A Key Regulator of Ribosomal RNA Transcription and Cellular Homeostasis

Comprehensive genomic and functional overview of SIRT7, a NAD+-dependent deacetylase involved in chromatin regulation, metabolism, and aging.

Gene Information Card

Symbol SIRT7
Full Name Sirtuin 7
Gene Type Protein-coding
Chromosomal Location 17q25.3
NCBI Gene ID 51547 ncbi.nlm.nih.gov/gene/51547
Ensembl ID ENSG00000187531
UniProt ID Q9NRC8
OMIM ID 606212
HGNC ID 14936
Aliases SIR2L7, SIR2-like protein 7

Description

SIRT7 is a member of the sirtuin family of NAD+-dependent deacetylases. It localizes to the nucleolus and acts as a positive regulator of RNA polymerase I transcription by deacetylating histones (e.g., H3K18ac) and transcription factors. SIRT7 also modulates chromatin compaction, DNA repair, metabolism, and stress responses. Its dysregulation is linked to aging, metabolic disorders, and multiple cancers.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hepatocellular carcinoma SIRT7 overexpression promotes cell proliferation and tumor growth by deacetylating H3K18ac at rDNA promoters, enhancing rRNA synthesis. PMID: 23376921
Metabolic syndrome SIRT7 deficiency impairs mitochondrial function and insulin sensitivity, leading to hepatic steatosis and glucose intolerance. PMID: 24623306
Aging and longevity SIRT7 loss accelerates cellular senescence and shortens lifespan in mice, partly through p53 hyperacetylation and mitochondrial dysfunction. PMID: 24623306
Breast cancer SIRT7 upregulation correlates with poor prognosis; it deacetylates H3K18ac to repress tumor suppressor genes. PMID: 25921531

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 8.2 Medium
Heart 6.5 Medium
Skeletal muscle 5.1 Low
Kidney 4.3 Low
Brain 3.0 Low
Testis 2.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HepG2 (liver cancer) 7.8 High expression
MCF7 (breast cancer) 6.2 Moderate expression
HEK293 (embryonic kidney) 4.5 Low expression
K562 (leukemia) 3.1 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.337C>T (p.Arg113Trp) Missense <0.01% Unknown functional impact; rare population variant
c.458G>A (p.Arg153Gln) Missense <0.01% Reported in COSMIC; potential loss-of-function
c.622C>T (p.Arg208Cys) Missense <0.01% Found in cancer samples; effect unclear
Mutation functional classification

Loss of Function (LOF)

Rare missense variants (e.g., p.Arg153Gln) may reduce deacetylase activity, impairing rRNA transcription and mitochondrial homeostasis.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported in SIRT7.

Dominant Negative (DN)

No dominant-negative mutations described for SIRT7.

Gene Ontology (GO)

• NAD-dependent histone deacetylase activity (H3K18 specific) • Chromatin silencing at rDNA
• Positive regulation of RNA polymerase I transcription • Nucleolus localization
• Protein deacetylation • Cellular response to stress

Pathways

rRNA transcription by RNA polymerase I
NAD+ metabolism
p53 signaling pathway
Mitochondrial biogenesis

Protein Summary

SIRT7 is a 400-amino-acid NAD+-dependent deacetylase predominantly localized in the nucleolus. It specifically deacetylates histone H3 lysine 18 (H3K18ac) and non-histone targets such as p53 and GABPβ1. By promoting rRNA transcription and repressing tumor suppressor genes, SIRT7 regulates cell growth, metabolism, and genomic stability. Its expression is elevated in several cancers and reduced in metabolic tissues during aging.

Related Products

Product name Cat.No. Species Gene ID
SIRT7 Knockout HEK293 Cell Line EDJ-KQ15266 Human 51547 Details Get a Quote
SIRT7 Knockout A-549 Cell Line EDJ-KQ18097 Human 51547 Details Get a Quote
SIRT7 Knockout HeLa Cell Line EDJ-KQ45956 Human 51547 Details Get a Quote
SIRT7 Knockout HCT 116 Cell Line EDJ-KQ48142 Human 51547 Details Get a Quote
SIRT7 Knockout HeLa S3 Cell Line EDJ-KZ465 Human 51547 Details Get a Quote
SIRT7 Knockout U-87MG ATCC Cell Line EDJ-KZ466 Human 51547 Details Get a Quote
SIRT7 Knockout HAP1 Cell Line EDC08288 Human 51547 Details Get a Quote
Displaying Records 1 To 7 Of 7 Records
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