Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	SIRT1
Symbol Alias	SIR2L1
Approved Name	sirtuin 1
Previous Name	sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1, "sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"
Location	10q21
Position	chr10:67884669-67918390, 1
External Links	HGNC: 14929 Entrez Gene: 23411 Ensembl: ENSG00000096717 UCSC: uc001jnd.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Kishi, T.,2011(a)	SNP: rs10997875, rs12778366, rs2273773, rs4746720 Haplotype: rs12778366 - rs2273773 - rs4746720 - rs10997875(C-T-T-T), rs12778366 - rs2273773 - rs4746720 - rs10997875(T-C-T-T), rs12778366 - rs2273773 - rs4746720 - rs10997875(T-T-C-T), rs12778366 - rs2273773 - rs4746720 - rs10997875(T-T-T-C), rs12778366 - rs2273773 - rs4746720 - rs10997875(T-T-T-T)	Four tagging SNPs in the SIRT1 gene were not associated with BP in our sample.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 141)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA	283
GO:0003714	transcription corepressor activity	molecular function	IDA[12535671]; ISS	21

GO terms by database search (count: 139)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016032	viral process	biological process	IEA	26
GO:0006346	methylation-dependent chromatin silencing	biological process	TAS[21947282]	1
GO:2000481	positive regulation of cAMP-dependent protein kinase activity	biological process	IMP[18687677]	1
GO:0040029	regulation of gene expression, epigenetic	biological process	TAS	3
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IMP[19047049]	4
GO:0007346	regulation of mitotic cell cycle	biological process	IDA[15692560]	3
GO:0031937	positive regulation of chromatin silencing	biological process	IMP[15469825]	1
GO:0016239	positive regulation of macroautophagy	biological process	IDA[18296641]	1
GO:0032088	negative regulation of NF-kappaB transcription factor activity	biological process	IDA[15152190]	6
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	biological process	IDA[11672523]	2
GO:0034983	peptidyl-lysine deacetylation	biological process	IDA[15469825]	2
GO:0033553	rDNA heterochromatin	cellular component	IDA[18485871]	1
GO:0033558	protein deacetylase activity	molecular function	IDA[19934257]; IMP[20670893]	2
GO:0008284	positive regulation of cell proliferation	biological process	IMP[21807113]	44
GO:0061647	histone H3-K9 modification	biological process	IEA; ISS	2
GO:0043398	HLH domain binding	molecular function	IPI[12535671]	1
GO:0018394	peptidyl-lysine acetylation	biological process	IMP[18004385]	1
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0001934	positive regulation of protein phosphorylation	biological process	ISS	15
GO:0010467	gene expression	biological process	TAS	41
GO:0034605	cellular response to heat	biological process	TAS	11
GO:0005737	cytoplasm	cellular component	IDA; IDA[15469825]	322
GO:0042802	identical protein binding	molecular function	IPI[15469825]	44
GO:0006343	establishment of chromatin silencing	biological process	IDA[15469825]	1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological process	IDA[21807113]	91
GO:0010875	positive regulation of cholesterol efflux	biological process	ISS	4
GO:2000111	positive regulation of macrophage apoptotic process	biological process	ISS	2
GO:0005637	nuclear inner membrane	cellular component	IDA[15469825]	3
GO:0006281	DNA repair	biological process	TAS[17317627]	16
GO:2000773	negative regulation of cellular senescence	biological process	IDA[20203304]	1
GO:0046969	NAD-dependent histone deacetylase activity (H3-K9 specific)	molecular function	ISS	2
GO:0006342	chromatin silencing	biological process	TAS[10381378]	1
GO:0019899	enzyme binding	molecular function	IPI[23382074]	34
GO:0005635	nuclear envelope	cellular component	IDA[15469825]	10
GO:0043066	negative regulation of apoptotic process	biological process	IMP[16892051]	46
GO:0032071	regulation of endodeoxyribonuclease activity	biological process	IMP[19934257]	1
GO:0004407	histone deacetylase activity	molecular function	EXP; IDA[20027304]	2
GO:0001525	angiogenesis	biological process	IDA[20620956]	20
GO:0050872	white fat cell differentiation	biological process	ISS	3
GO:0051019	mitogen-activated protein kinase binding	molecular function	IPI[20027304]	3
GO:0070857	regulation of bile acid biosynthetic process	biological process	ISS	1
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	biological process	IDA[11672523]; IMP[17505061]	6
GO:0006325	chromatin organization	biological process	IMP[22956909]	14
GO:0007569	cell aging	biological process	TAS[11672523]	5
GO:0006974	cellular response to DNA damage stimulus	biological process	IDA[18203716]	14
GO:0003950	NAD+ ADP-ribosyltransferase activity	molecular function	TAS[17456799]	1
GO:0042127	regulation of cell proliferation	biological process	IMP[12006491]	14
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	biological process	IMP[20100829]	3
GO:0008134	transcription factor binding	molecular function	IPI[20955178]	28
GO:2000757	negative regulation of peptidyl-lysine acetylation	biological process	IDA[20100829]	1
GO:0070301	cellular response to hydrogen peroxide	biological process	IDA[20027304]	4
GO:1901215	negative regulation of neuron death	biological process	IEA	6
GO:0001542	ovulation from ovarian follicle	biological process	IEA	3
GO:0042393	histone binding	molecular function	IPI[15469825]	2
GO:0034391	regulation of smooth muscle cell apoptotic process	biological process	ISS	1
GO:0035098	ESC/E(Z) complex	cellular component	IDA[15684044]	2
GO:0032922	circadian regulation of gene expression	biological process	IMP[18662546]; ISS	22
GO:0006476	protein deacetylation	biological process	IDA[18203716]; IMP[11672523]	1
GO:0000183	chromatin silencing at rDNA	biological process	IDA[18485871]; TAS	2
GO:0035356	cellular triglyceride homeostasis	biological process	ISS	2
GO:0006364	rRNA processing	biological process	IEA	2
GO:2000619	negative regulation of histone H4-K16 acetylation	biological process	IMP[17916362]	1
GO:0005719	nuclear euchromatin	cellular component	IDA[15469825]	5
GO:0007283	spermatogenesis	biological process	IEA	29
GO:0008022	protein C-terminus binding	molecular function	IPI[18203716]	21
GO:2000774	positive regulation of cellular senescence	biological process	IDA[18687677]	2
GO:0007517	muscle organ development	biological process	IEA	11
GO:0071479	cellular response to ionizing radiation	biological process	ISS	3
GO:0005730	nucleolus	cellular component	IDA[15469825]; IDA[16079181]	28
GO:0045599	negative regulation of fat cell differentiation	biological process	ISS	7
GO:0006351	transcription, DNA-templated	biological process	IEA	103
GO:0017136	NAD-dependent histone deacetylase activity	molecular function	IDA[12006491]	1
GO:0000012	single strand break repair	biological process	IMP[20097625]	1
GO:0070914	UV-damage excision repair	biological process	IMP[20670893]	2
GO:0045348	positive regulation of MHC class II biosynthetic process	biological process	IDA[21890893]	5
GO:2000655	negative regulation of cellular response to testosterone stimulus	biological process	IMP[17505061]	1
GO:0005739	mitochondrion	cellular component	IDA	75
GO:0016567	protein ubiquitination	biological process	IDA[21841822]	18
GO:1990254	keratin filament binding	molecular function	IPI[23382074]	1
GO:0060766	negative regulation of androgen receptor signaling pathway	biological process	IMP[17505061]	2
GO:0090400	stress-induced premature senescence	biological process	IMP[17916362]	1
GO:0070932	histone H3 deacetylation	biological process	IDA[20027304]; IMP[17505061]	4
GO:0000720	pyrimidine dimer repair by nucleotide-excision repair	biological process	IMP[21149730]	1
GO:0010629	negative regulation of gene expression	biological process	IMP[17916362]	12
GO:0071456	cellular response to hypoxia	biological process	IMP[20620956]	13
GO:0019213	deacetylase activity	molecular function	IDA[18203716]	3
GO:0045892	negative regulation of transcription, DNA-templated	biological process	IDA[11672523]	43
GO:1902166	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	biological process	ISS[11672522]	1
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	biological process	ISS	3
GO:0046628	positive regulation of insulin receptor signaling pathway	biological process	IDA[21241768]	4
GO:0031648	protein destabilization	biological process	IDA[20955178]; ISS	5
GO:0051097	negative regulation of helicase activity	biological process	IDA[18203716]	1
GO:0006979	response to oxidative stress	biological process	IDA[14976264]	11
GO:0032868	response to insulin	biological process	ISS	10
GO:0000731	DNA synthesis involved in DNA repair	biological process	ISS	1
GO:0071441	negative regulation of histone H3-K14 acetylation	biological process	IMP[17916362]	1
GO:1902176	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	biological process	IMP[17317627]	4
GO:0005677	chromatin silencing complex	cellular component	IDA[18485871]	1
GO:0071356	cellular response to tumor necrosis factor	biological process	IDA[15152190]	7
GO:0009267	cellular response to starvation	biological process	ISS	6
GO:0000790	nuclear chromatin	cellular component	IDA[17505061]	7
GO:0045739	positive regulation of DNA repair	biological process	IMP[19934257]	4
GO:0035358	regulation of peroxisome proliferator activated receptor signaling pathway	biological process	ISS	1
GO:1901984	negative regulation of protein acetylation	biological process	IMP[17916362]	1
GO:1900034	regulation of cellular response to heat	biological process	TAS	10
GO:0045814	negative regulation of gene expression, epigenetic	biological process	TAS	3
GO:0070403	NAD+ binding	molecular function	IEA	1
GO:0042632	cholesterol homeostasis	biological process	ISS	8
GO:0002821	positive regulation of adaptive immune response	biological process	IDA[21890893]	1
GO:0006642	triglyceride mobilization	biological process	ISS	3
GO:0051574	positive regulation of histone H3-K9 methylation	biological process	IMP[22956909]	1
GO:0005515	protein binding	molecular function	IPI[11672523]	563
GO:0043065	positive regulation of apoptotic process	biological process	IDA[15152190]; IMP[19047049]	25
GO:0016575	histone deacetylation	biological process	IDA[12006491]	2
GO:0034979	NAD-dependent protein deacetylase activity	molecular function	IDA[20955178]; IMP[11672523]; TAS	1
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	biological process	IMP[21841822]	13
GO:0031393	negative regulation of prostaglandin biosynthetic process	biological process	ISS	1
GO:0042595	behavioral response to starvation	biological process	IEA	1
GO:0005720	nuclear heterochromatin	cellular component	IDA[15469825]	1
GO:0042326	negative regulation of phosphorylation	biological process	IMP[17612497]	3
GO:0006344	maintenance of chromatin silencing	biological process	IMP[15469825]	1
GO:0042542	response to hydrogen peroxide	biological process	IDA[19934257]	4
GO:0030308	negative regulation of cell growth	biological process	IMP[17505061]	11
GO:0006260	DNA replication	biological process	TAS[17317627]	7
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	biological process	IDA[12535671]; IMP[21947282]	62
GO:0051898	negative regulation of protein kinase B signaling	biological process	IMP[21149730]	6
GO:0055089	fatty acid homeostasis	biological process	ISS	4
GO:0006471	protein ADP-ribosylation	biological process	TAS[17456799]	1
GO:0010906	regulation of glucose metabolic process	biological process	ISS	3
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	biological process	IDA[17680780]	5
GO:0002039	p53 binding	molecular function	IPI[11672523]	7
GO:0016605	PML body	cellular component	IDA[12006491]	7
GO:0033158	regulation of protein import into nucleus, translocation	biological process	IMP[18203716]	1
GO:0001046	core promoter sequence-specific DNA binding	molecular function	IEA	10
GO:0032007	negative regulation of TOR signaling	biological process	IMP[20169165]	2
GO:0043425	bHLH transcription factor binding	molecular function	IPI[12535671]	3
GO:0001678	cellular glucose homeostasis	biological process	ISS	3
GO:2000480	negative regulation of cAMP-dependent protein kinase activity	biological process	IDA[20203304]	4

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
pmlPathway	Regulation of transcriptional activity by PML	3

Gene related interactors from protein-protein interactions data in HPRD (count: 13)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
SIRT1	FOXO3	YES	in vitro;in vivo;yeast 2-hybrid	14976264
SIRT1	RELA	NO	in vivo	15152190
SIRT1	NR1H2	NO	in vivo	17936707
SIRT1	HIC1	NO	in vivo	16269335
SIRT1	EP300	NO	in vitro;in vivo	15632193
SIRT1	PPARGC1A	NO	in vitro;in vivo	15744310
SIRT1	HEY2	NO	in vitro;in vivo	12535671
SIRT1	FOXO1	NO	in vivo	15692560
SIRT1	NR1H3	NO	in vivo	17936707
SIRT1	TP53	NO	in vitro;in vivo	11672523
SIRT1	HNF4A	YES	in vivo	15744310
SIRT1	RRP8	NO	in vivo	18485871
SIRT1	HIST1H1B	NO	in vitro	15469825

Related other genetic factors

Gene related SNPs (count: 25)

Literature-origin SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2273773	chr10:67906841 - 67906841(1)	non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(0/1/0)
rs10997875	chr10:67920067 - 67920067(1)	downstream_gene_variant	1(0/1/0)
rs12778366	chr10:67883321 - 67883321(1)	upstream_gene_variant	1(0/1/0)
rs4746720	chr10:67917073 - 67917073(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/1/0)

LD-proxies (count: 21)

rs_ID	Location	Functional Annotation
rs3740051	chr10:67884201 - 67884201(1)	upstream_gene_variant
rs3818292	chr10:67907144 - 67907144(1)	downstream_gene_variant; intron_variant
rs10823112	chr10:67911059 - 67911059(1)	downstream_gene_variant; intron_variant
rs2236319	chr10:67889462 - 67889462(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10823107	chr10:67900466 - 67900466(1)	intron_variant; non_coding_transcript_variant
rs10823108	chr10:67900736 - 67900736(1)	intron_variant; non_coding_transcript_variant
rs7096385	chr10:67905124 - 67905124(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10997870	chr10:67908257 - 67908257(1)	downstream_gene_variant; intron_variant
rs2224573	chr10:67905630 - 67905630(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1467568	chr10:67915401 - 67915401(1)	intron_variant
rs7091896	chr10:67913488 - 67913488(1)	intron_variant
rs10997866	chr10:67898893 - 67898893(1)	intron_variant; non_coding_transcript_variant
rs11596401	chr10:67896279 - 67896279(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs10997868	chr10:67905202 - 67905202(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs7069102	chr10:67903362 - 67903362(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10823103	chr10:67891211 - 67891211(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10997860	chr10:67885828 - 67885828(1)	intron_variant; non_coding_transcript_variant
rs1885472	chr10:67895054 - 67895054(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs7896005	chr10:67891367 - 67891367(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs16924945	chr10:67914590 - 67914590(1)	intron_variant
rs3758391	chr10:67883584 - 67883584(1)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
10p11.21-q22.1	chr10:34200000-73100000	1 (1/0/0)
Chr 10	chr10:0-133797422	3 (0/2/1)
10q11.21-q22.1	chr10:41600000-73100000	1 (0/0/1)
10q11-q21	chr10:39800000-68800000	1 (0/1/0)
10q21	chr10:51100000-68800000	4 (0/3/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Description	Result Category
20977650	In conclusion, our results suggest that the SIRT1 gene may play a role in the pathophysiology of schizophrenia in the Japanese population.	Positive

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
20977650	1007	Positive

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
20451257	We found an association between rs10997875 in SIRT1 gene and MDD in the allele/genotype analysis.	Pos	SIRT1

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Region: chr10:67884669..67918390 View in gBrowse