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

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