About Enhancer
| Enhancer ID: | E_01944 |
| Species: | Homo sapiens |
| Position : | chr3:142940163-142943066   |
| Year: | 2024 |
| Title: | Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia. |
| Genome Build: | hg38 |
| Enhancer Type: | Enhancer |
| Condition: | Disease |
| Disease Name: | metabolic dysfunction-associated steatotic liver disease |
| PMID: | 38493444 |
| MONDO: | MONDO:0013209 |
| Tissue: | liver |
| Tissue Ontology ID: | UBERON:0002107 |
| Cell Source: | Hep-G2 |
| CVCL ID: | CVCL_0027 |
| Cell Type: | hepatoblast |
| Cell Ontology ID: | CL:0005026 |
| Experiment Type: | Enhancer activity assay; TF binding assay; Allele-specific functional assay; Functional perturbation assay; Disease-variant functional analysis |
| High Throughput Method: | SREBF1 ChIP-seq (ENCODE, public); H3K4me1 ChIP-seq (human liver, public); H3K27ac ChIP-seq (human liver, public); RNA-seq (published human NAFLD liver dataset); RNA-seq; GWAS |
| Low Throughput Method: | Luciferase Reporter Assay; SREBF1 siRNA knockdown; SREBF1 ChIP-qPCR; CRISPR base editing of rs9653945 G>A; Sanger sequencing; RT-qPCR |
About Target Gene
| Target gene : | HLMR1 |
About TF
| TF name : | SREBF1 |
About Regulatory State
| Regulatory State : | Active |
Upstream Pathway Annotation of TF
| GeneName | Pathway Name | Source | Gene Number |
|---|---|---|---|
| SREBF1 | Activation of gene expression by SREBF (SREBP) | reactome | 42 |
| SREBF1 | Caspase Cascade in Apoptosis | pid | 57 |
| SREBF1 | ID | netpath | 38 |
| SREBF1 | mTOR signaling pathway | pid | 66 |
| SREBF1 | PPARA activates gene expression | reactome | 113 |
| SREBF1 | Regulation of cholesterol biosynthesis by SREBP (SREBF) | reactome | 15 |
| SREBF1 | RORA activates gene expression | reactome | 27 |
| SREBF1 | RXR and RAR heterodimerization with other nuclear receptor | pid | 26 |
| SREBF1 | Transcriptional regulation of white adipocyte differentiation | reactome | 79 |
| SREBF1 | Insulin signaling pathway | kegg | 134 |
| SREBF1 | Hs_Signaling_of_Hepatocyte_Growth_Factor_Receptor_WP313_79946 | wikipathways | 15 |
| SREBF1 | Hs_AMP-activated_Protein_Kinase_(AMPK)_Signaling_WP1403_90259 | wikipathways | 11 |
| SREBF1 | Hs_Sterol_Regulatory_Element-Binding_Proteins_(SREBP)_signalling_WP1982_90425 | wikipathways | 15 |
| SREBF1 | Hs_SREBF_and_miR33_in_cholesterol_and_lipid_homeostasis_WP2011_89947 | wikipathways | 6 |
| SREBF1 | Hs_ID_signaling_pathway_WP53_67360 | wikipathways | 8 |
Enhancer Associated Network
Overlapping Enhancers (hg38)
No overlapping enhancers found in hg38 at this locus.
Expression of Target Genes for the Enhancer