About Enhancer

Enhancer ID: E_02_0950
Species: human
Position : chr17:42078865-42079198
Biosample name:
Experiment class : Low throughput
Enhancer type: Enhancer
Disease: --
Pubmed ID:  22383952
Enhancer experiment: PCR,ChIP,Luciferase Reporter Assay
Enhancer experiment description: Reporter assays to compare the effect of the enhancer in liver,intestine and lung cells, included data that were normalized to the reporter expression driven by the NAGS promoter. While the NAGS enhancer (4.10PromEnh) increased expression of the reporter gene by 50% in liver derived cells (Figure 2A), expression of the luciferase gene did not increase in the intestine or lung derived cells (Figure 8) suggesting that the enhancer may determine tissue specificity of NAGS expression.

About Target gene

Target gene : NAGS(AGAS,ARGA)
Strong evidence: --
Less strong evidence: ChIP,Luciferase Reporter Assay
Target gene experiment description: We subsequently confirmed that these regions function as promoter and enhancer and that the enhancer is most effective in liver cells. Avidin-agarose protein_x0002_DNA pull-down assays have been used to confirm binding of Sp1 and CREB within the NAGS promoter and Hepatic Nuclear Factor 1 (HNF-1) and NF-Y within the enhancer regions. Chromatin immunoprecipitation (ChIP) and quantitative real_x0002_time PCR have been used to independently verify that Sp1 and CREB bind to the promoter region, and HNF-1 and NF-Y bind to the enhancer region. We also used 59RACE analysis to identify multiple transcription start sites for NAGS that may be species and tissue specific.

About TF

TF name : SP1(SP1)HNF1A(HNF-1A,HNF1,HNF4A,IDDM20,LFB1,MODY3,TCF-1,TCF1)NF-Y(NF-Y)
TF experiment: ChIP,qPCR
TF experiment description: Thus,Pull-down and ChIP assays confirmed that Sp1 and CREB bind along the NAGS promoter and HNF-1 and NF-Y bind along the Enhancer.

About Function

Enhancer function : Two regions of high conservation upstream of the translation start of the NAGS gene. Reporter assays confirmed that these regions represent promoter and enhancer and that the enhancer is tissue specific.
Enhancer function experiment: Luciferase Reporter Assay
Enhancer function
experiment description:		 Reporter assays to compare the effect of the enhancer in liver, intestine and lung cells, included data that were normalized to the reporter expression driven by the NAGS promoter. While the NAGS enhancer (4.10PromEnh) increased expression of the reporter gene by 50% in liver derived cells (Figure 2A), expression of the luciferase gene did not increase in the intestine or lung derived cells (Figure 8) suggesting that the enhancer may determine tissue specificity of NAGS expression. When HNF-1

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
HNF1A FOXA2 and FOXA3 transcription factor networks pid 45
HNF1A IL6 netpath 85
HNF1A Presenilin action in Notch and Wnt signaling pid 46
HNF1A Regulation of gene expression in beta cells reactome 17
HNF1A Maturity onset diabetes of the young kegg 25

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