SREBF1

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]

Description

Sterol regulatory element binding transcription factor 1

Tissue specificity

Tissue enhanced (adrenal gland)

Subcell location

Nucleoplasm, Golgi apparatus, Cytosol

Predicted location

Intracellular, Membrane

Protein family

Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transcription factors

Chromosome

17 (17810399 - 17837011)

Ensembl ID

ENSG00000072310  (ver. 103.38)

Orthologs

Mouse Srebf1: ENSMUSG00000020538

UniProt

P36956

neXtProt

NX_P36956

Human splice variants
Mouse splice variants

Protein structure