Aliases for STARD3 Gene
External Ids for STARD3 Gene
Previous GeneCards Identifiers for STARD3 Gene
This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
GeneCards Summary for STARD3 Gene
STARD3 (StAR Related Lipid Transfer Domain Containing 3) is a Protein Coding gene. Diseases associated with STARD3 include C Syndrome and Breast Cancer. Among its related pathways are Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include lipid binding and cholesterol transporter activity. An important paralog of this gene is STARD3NL.
UniProtKB/Swiss-Prot Summary for STARD3 Gene
Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464). Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263, PubMed:28377464). Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes (PubMed:28377464). May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane (PubMed:12070139, PubMed:19965586). However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:28377464). Does not activate transcriptional cholesterol sensing (PubMed:28377464). Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina (PubMed:21322544).