Hs05204496_cn

• Gene Symbol: SIRT1
• Assay Reference Genome Location: Chr.10:67893931 on build GRCh38
• Cytoband: 10q21.3

Target Gene Details

• Entrez Gene ID: 23411
• Gene Name: sirtuin 1
• Gene Aliases: SIR2, SIR2L1, SIR2alpha
• Location: Chr.10:67884669-67918390 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SIRT1	NM_001142498.1			NP_001135970.1
	NM_001314049.1			NP_001300978.1
	NM_012238.4			NP_036370.2
	AF083106.2			AAD40849.2
	AF235040.1			AAG38486.1
	AK027686.1
	AK074805.1
	AK289743.1
	AL136741.1
	BC012499.1			AAH12499.1
	DB162635.1
	JQ768366.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv551433	Chr.10:67805187 - 67937238 on Build GRCh38	Loss	HERC4 SIRT1 DNAJC12

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

single strand break repair
negative regulation of transcription from RNA polymerase II promoter
chromatin silencing at rDNA
pyrimidine dimer repair by nucleotide-excision repair
DNA synthesis involved in DNA repair
angiogenesis
ovulation from ovarian follicle
cellular glucose homeostasis
positive regulation of protein phosphorylation
positive regulation of endothelial cell proliferation
positive regulation of adaptive immune response
DNA replication
DNA repair
chromatin organization
chromatin silencing
establishment of chromatin silencing
maintenance of chromatin silencing
methylation-dependent chromatin silencing
transcription, DNA-templated
rRNA processing
protein ADP-ribosylation
protein deacetylation
triglyceride mobilization
cellular response to DNA damage stimulus
response to oxidative stress
spermatogenesis
regulation of mitotic cell cycle
muscle organ development
cell aging
positive regulation of cell proliferation
cellular response to starvation
negative regulation of gene expression
positive regulation of cholesterol efflux
regulation of lipid storage
regulation of glucose metabolic process
macrophage cytokine production
positive regulation of phosphatidylinositol 3-kinase signaling
viral process
positive regulation of macroautophagy
protein ubiquitination
histone deacetylation
peptidyl-lysine acetylation
macrophage differentiation
negative regulation of cell growth
negative regulation of transforming growth factor beta receptor signaling pathway
negative regulation of prostaglandin biosynthetic process
protein destabilization
positive regulation of chromatin silencing
negative regulation of TOR signaling
regulation of endodeoxyribonuclease activity
negative regulation of NF-kappaB transcription factor activity
response to insulin
circadian regulation of gene expression
regulation of protein import into nucleus, translocation
leptin-mediated signaling pathway
regulation of smooth muscle cell apoptotic process
peptidyl-lysine deacetylation
cellular triglyceride homeostasis
regulation of peroxisome proliferator activated receptor signaling pathway
regulation of cell proliferation
negative regulation of phosphorylation
response to hydrogen peroxide
behavioral response to starvation
cholesterol homeostasis
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
positive regulation of apoptotic process
negative regulation of apoptotic process
negative regulation of I-kappaB kinase/NF-kappaB signaling
proteasome-mediated ubiquitin-dependent protein catabolic process
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
negative regulation of sequence-specific DNA binding transcription factor activity
negative regulation of DNA damage response, signal transduction by p53 class mediator
response to leptin
positive regulation of MHC class II biosynthetic process
negative regulation of fat cell differentiation
positive regulation of DNA repair
positive regulation of angiogenesis
negative regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of insulin receptor signaling pathway
white fat cell differentiation
negative regulation of helicase activity
positive regulation of histone H3-K9 methylation
negative regulation of protein kinase B signaling
fatty acid homeostasis
negative regulation of androgen receptor signaling pathway
histone H3-K9 modification
cellular response to hydrogen peroxide
regulation of bile acid biosynthetic process
UV-damage excision repair
histone H3 deacetylation
cellular response to tumor necrosis factor
negative regulation of histone H3-K14 acetylation
cellular response to hypoxia
cellular response to ionizing radiation
regulation of protein serine/threonine kinase activity
regulation of brown fat cell differentiation
stress-induced premature senescence
regulation of cellular response to heat
negative regulation of neuron death
negative regulation of protein acetylation
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway
positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
positive regulation of adipose tissue development
histone H3-K9 deacetylation
positive regulation of macrophage apoptotic process
negative regulation of cAMP-dependent protein kinase activity
positive regulation of cAMP-dependent protein kinase activity
negative regulation of histone H4-K16 acetylation
negative regulation of cellular response to testosterone stimulus
negative regulation of peptidyl-lysine acetylation
negative regulation of cellular senescence
positive regulation of cellular senescence

Function(s)

core promoter sequence-specific DNA binding
p53 binding
transcription corepressor activity
NAD+ ADP-ribosyltransferase activity
histone deacetylase activity
protein binding
protein C-terminus binding
transcription factor binding
NAD-dependent histone deacetylase activity
deacetylase activity
enzyme binding
protein deacetylase activity
NAD-dependent protein deacetylase activity
nuclear hormone receptor binding
histone binding
identical protein binding
HLH domain binding
bHLH transcription factor binding
metal ion binding
NAD-dependent histone deacetylase activity (H3-K9 specific)
mitogen-activated protein kinase binding
NAD+ binding
keratin filament binding