SREBF1
Description
The SREBF1 (sterol regulatory element binding transcription factor 1) is a protein-coding gene located on chromosome 17.
SREBF1, also known as sterol regulatory element-binding protein 1 (SREBP-1), is a protein encoded by the SREBF1 gene. The gene is located on chromosome 17. There are two isoforms of SREBF1: SREBP-1a, expressed in the intestine and spleen, and SREBP-1c, mainly expressed in the liver, muscle, and fat. SREBF1 proteins are transcription factors that bind to the sterol regulatory element-1 (SRE1), a sequence found in the promoters of genes involved in sterol biosynthesis. SREBF1 is synthesized as a precursor attached to the nuclear membrane and endoplasmic reticulum. Cleavage of the precursor releases the mature protein, which moves to the nucleus and activates transcription. Sterols inhibit cleavage of the precursor and the mature protein is rapidly degraded, reducing transcription.
The SREBF1 protein is a precursor to the transcription factor form, which is embedded in the endoplasmic reticulum membrane. When sterol levels are low, the precursor is processed, releasing the transcription factor form, which moves to the nucleus. This activates genes involved in cholesterol biosynthesis and lipid homeostasis.
SREBF1 is also known as HMD, IFAP2, SREBP1, bHLHd1.
Associated Diseases
- Hirschsprung disease
- Mucoepithelial dysplasia, hereditary
- Ichthyosis, follicular, with atrichia and photophobia syndrome 2
