About Enhancer

Enhancer ID: E_02_0914
Species: human
Position : chr7:100474191-100474841
Biosample name:
Experiment class : Low+High throughput
Enhancer type: Enhancer
Disease: --
Pubmed ID:  24391766
Enhancer experiment: Luciferase Reporter Assay,PCR,EMSA,ChIP-seq
Enhancer experiment description: The first intron of the hamster is shorter compared to mouse and rat corresponding to the first half of the introns in these species.Generally, sequence conservation was low across the first intron,except a region of high conservation ranging from IVS(intervening sequence)1+1200 to IVS1+1850 with the IVS1+1505G/A baseexchange in the center of this region.

About Target gene

Target gene : Ucp3(AI645527,Slc25a9,UCP-3)
Strong evidence: --
Less strong evidence: Luciferase Reporter Assay,PCR,EMSA
Target gene experiment description: Generally, sequence conservation was low across the first intron,except a region of high conservation ranging from IVS(intervening sequence)1+1200 to IVS1+1850 with the IVS1+1505G/A base exchange in the center of this region.

About TF

TF name : Sp1(SP1)Sp3(SPR2)
TF experiment: EMSA,ChIP-seq
TF experiment description: We discovered that the transcription factors SP1 and SP3 were binding to the IVS1+1505G element, whereas binding to the mutant allele was strongly diminished. Direct binding of PPAR? and RXRa to the IVS1+1505G element could be ruled out.

About Function

Enhancer function : This intronic region is the main Enhancer driving UCP3 expression with SP1/3 and PPARc as the core factors required for expression.
Enhancer function experiment: EMSA,ChIP-seq
Enhancer function
experiment description:
While we understand that simple EMSA experiments are not sufficient to validate presence of a complex transcription factor binding module conserved across the whole mammalian class, our data provide good evidence that it an intronic Enhancer in the first intron of the UCP3 gene is of importance in non-rodent species as well.

About SNP

SNP ID: --

Upstream Pathway Annotation of TF

GeneName Pathway Name Source Gene Number
Sp1 Activation of gene expression by SREBF (SREBP) reactome 42
Sp1 AndrogenReceptor netpath 167
Sp1 AP-1 transcription factor network pid 71
Sp1 C-MYB transcription factor network pid 87
Sp1 Direct p53 effectors pid 141
Sp1 E2F transcription factor network pid 77
Sp1 EGFR1 netpath 475
Sp1 FOXA1 transcription factor network pid 45
Sp1 FOXA2 and FOXA3 transcription factor networks pid 45
Sp1 FOXM1 transcription factor network pid 43
Sp1 HIF-1-alpha transcription factor network pid 67
Sp1 HIF-2-alpha transcription factor network pid 34
Sp1 Huntington disease panther 113
Sp1 IL2 signaling events mediated by STAT5 pid 30
Sp1 IL4-mediated signaling events pid 66
Sp1 Leptin netpath 98
Sp1 Oncogene Induced Senescence reactome 30
Sp1 p73 transcription factor network pid 80
Sp1 PPARA activates gene expression reactome 113
Sp1 Regulation of nuclear SMAD2/3 signaling pid 82
Sp1 Regulation of Telomerase pid 70
Sp1 RNA polymerase II transcribes snRNA genes reactome 70
Sp1 SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription reactome 32
Sp1 TGF_beta_Receptor netpath 220
Sp1 Validated targets of C-MYC transcriptional repression pid 63
Sp1 Validated transcriptional targets of AP1 family members Fra1 and Fra2 pid 37
Sp1 Validated transcriptional targets of TAp63 isoforms pid 54
Sp1 TGF-beta signaling pathway kegg 82
Sp1 Huntington's disease kegg 182
Sp1 Hs_Corticotropin-releasing_hormone_signaling_pathway_WP2355_90017 wikipathways 41
Sp1 Hs_Leptin_signaling_pathway_WP2034_89856 wikipathways 37
Sp1 Hs_Interleukin-11_Signaling_Pathway_WP2332_79525 wikipathways 17
Sp1 Hs_Integrated_Breast_Cancer_Pathway_WP1984_82941 wikipathways 122
Sp1 Hs_Estrogen_signaling_pathway_WP712_78491 wikipathways 13
Sp1 Hs_Sudden_Infant_Death_Syndrome_(SIDS)_Susceptibility_Pathways_WP706_86078 wikipathways 33
Sp1 Hs_TGF-beta_Signaling_Pathway_WP366_90028 wikipathways 67
Sp1 Hs_AGE-RAGE_pathway_WP2324_89798 wikipathways 27
Sp1 Hs_Androgen_receptor_signaling_pathway_WP138_79958 wikipathways 27
Sp1 Hs_EGF-EGFR_Signaling_Pathway_WP437_79266 wikipathways 107
Sp3 Leptin netpath 98
Sp3 Regulation of nuclear SMAD2/3 signaling pid 82
Sp3 Regulation of Telomerase pid 70
Sp3 SUMOylation of transcription factors reactome 14

Enhancer associated network

The number on yellow line represents the distance between enhancer and target gene

Expression of target genes for the enhancer


Enhancer associated SNPs