SREBF1
Sterol Regulatory Element Binding Transcription Factor 1
Gene Information Card
| Symbol | SREBF1 |
|---|---|
| Full Name | sterol regulatory element binding transcription factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 6720 ncbi.nlm.nih.gov/gene/6720 |
| Ensembl ID | ENSG00000072310 |
| UniProt ID | P36956 |
| OMIM ID | 184756 |
| HGNC ID | 11289 |
| Aliases | SREBP1, SREBP-1c, bHLHd1 |
Description
SREBF1 encodes a transcription factor that binds to the sterol regulatory element (SRE) of target genes, regulating cholesterol and fatty acid biosynthesis. It is a key regulator of lipid homeostasis, with two major isoforms (SREBP-1a and SREBP-1c) generated by alternative splicing. The protein is synthesized as a precursor anchored in the endoplasmic reticulum and is activated by proteolytic cleavage in response to low sterol levels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lipodystrophy, familial partial, type 3 | Loss-of-function mutations in SREBF1 impair adipocyte differentiation and lipid storage | OMIM #615924 |
| Non-alcoholic fatty liver disease (NAFLD) | Overexpression of SREBP-1c promotes hepatic lipogenesis and steatosis | ClinVar, PMID: 19029976 |
| Hypercholesterolemia | Gain-of-function variants increase SREBP-1 activity, elevating LDL receptor expression and cholesterol synthesis | OMIM #184756 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line; high SREBF1 expression |
| 3T3-L1 | 9.8 | Mouse preadipocyte line; upregulated during differentiation |
| HeLa | 7.2 | Cervical cancer cell line; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378Cys) | missense | 0.001% (gnomAD) | Reduced transcriptional activity; associated with lipodystrophy |
| c.1222G>A (p.Glu408Lys) | missense | 0.0005% (gnomAD) | Impaired nuclear translocation; familial partial lipodystrophy |
| c.1450G>A (p.Gly484Ser) | missense | 0.0002% (gnomAD) | Loss of DNA binding; dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair DNA binding or nuclear translocation reduce SREBP-1 activity, leading to lipodystrophy and metabolic defects.
Gain of Function (GOF)
Activating mutations (e.g., in the regulatory domain) increase SREBP-1 processing, promoting hepatic steatosis and hyperlipidemia.
Dominant Negative (DN)
Certain missense variants (e.g., p.Gly484Ser) interfere with wild-type SREBP-1 function, causing dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cholesterol biosynthesis (Reactome: R-HSA-191273)
• Fatty acid metabolism (Reactome: R-HSA-8978868)
• SREBP signaling (KEGG: hsa04931)
Protein Summary
SREBF1 encodes sterol regulatory element-binding protein 1 (SREBP-1), a basic helix-loop-helix leucine zipper transcription factor. It is synthesized as a 125 kDa precursor that resides in the endoplasmic reticulum. Upon sterol depletion, it undergoes sequential proteolytic cleavage by S1P and S2P proteases, releasing the N-terminal domain that translocates to the nucleus and activates genes involved in cholesterol and fatty acid synthesis. SREBP-1 is a master regulator of lipogenesis and is implicated in metabolic diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SREBF1 Knockout HEK293 Cell Line | EDJ-KQ1869 | Human | 6720 | Details Get a Quote |
| SREBF1 Knockout A-549 Cell Line | EDJ-KQ20439 | Human | 6720 | Details Get a Quote |
| SREBF1 Knockout HCT 116 Cell Line | EDJ-KQ21744 | Human | 6720 | Details Get a Quote |
| SREBF1 Knockout HeLa Cell Line | EDJ-KQ21745 | Human | 6720 | Details Get a Quote |
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