Aliases for SCAP Gene
External Ids for SCAP Gene
Previous GeneCards Identifiers for SCAP Gene
This gene encodes a protein with a sterol sensing domain (SSD) and seven WD domains. In the presence of cholesterol, this protein binds to sterol regulatory element binding proteins (SREBPs) and mediates their transport from the ER to the Golgi. The SREBPs are then proteolytically cleaved and regulate sterol biosynthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
GeneCards Summary for SCAP Gene
SCAP (SREBF Chaperone) is a Protein Coding gene. Diseases associated with SCAP include Malt Worker's Lung and Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency. Among its related pathways are Chks in Checkpoint Regulation and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is NPC1L1.
UniProtKB/Swiss-Prot Summary for SCAP Gene
Escort protein required for cholesterol as well as lipid homeostasis. Regulates export of the SCAP/SREBF complex from the ER upon low cholesterol. Formation of a ternary complex with INSIG at high sterol concentrations leads to masking of an ER-export signal in SCAP and retention of the complex in the ER. Low sterol concentrations trigger release of INSIG, a conformational change in the SSC domain of SCAP, unmasking of the ER export signal, recruitment into COPII-coated vesicles, transport to the Golgi complex, proteolytic cleavage of SREBF in the Golgi, release of the transcription factor fragment of SREBF from the membrane, its import into the nucleus and up-regulation of LDLR, INSIG1 and the mevalonate pathway (By similarity).