Aliases for SREBF1 Gene
External Ids for SREBF1 Gene
This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for SREBF1 Gene
SREBF1 (Sterol Regulatory Element Binding Transcription Factor 1) is a Protein Coding gene. Diseases associated with SREBF1 include homozygous familial hypercholesterolemia and obesity. Among its related pathways are L1CAM interactions and Regulation of Cholesterol Biosynthesis by SREBP (SREBF). GO annotations related to this gene include sequence-specific 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).