SREBF1, Official Symbol SREBF1provided by HGNC Official Full Name sterol regulatory element binding transcription factor 1provided by HGNC Primary source HGNC:HGNC:11289 See related Ensembl:ENSG00000072310 MIM:184756; AllianceGenome:HGNC:11289 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HMD; IFAP2; SREBP1; bHLHd1 Summary 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] Expression Ubiquitous expression in fat (RPKM 35.7), adrenal (RPKM 34.6) and 24 other tissues See more Orthologs mouse all