Protein Summary
Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892). this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]
- ENST00000310256
- ENSP00000312458
- ENSG00000173409
- EIEE38
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
---|---|---|---|
transcription factor binding site profile | 0.9 | ||
histone modification site profile | 0.8 | ||
kinase perturbation | 0.66 | ||
tissue sample | 0.62 | ||
transcription factor | 0.59 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 52.92 (req: < 5)
Gene RIFs: 9 (req: <= 3)
Antibodies: 88 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 52.92 (req: >= 5)
Gene RIFs: 9 (req: > 3)
Antibodies: 88 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 10
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0