Aliases for SREBF1 Gene
External Ids for SREBF1 Gene
Previous GeneCards Identifiers for SREBF1 Gene
This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]
GeneCards Summary for SREBF1 Gene
SREBF1 (Sterol Regulatory Element Binding Transcription Factor 1) is a Protein Coding gene. Diseases associated with SREBF1 include Fatty Liver Disease and Smith-Magenis Syndrome. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Adipogenesis. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is SREBF2.
UniProtKB/Swiss-Prot for SREBF1 Gene
Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol regulatory element 1 (SRE-1) (5-ATCACCCCAC-3). Has dual sequence specificity binding to both an E-box motif (5-ATCACGTGA-3) and to SRE-1 (5-ATCACCCCAC-3).