Aliases for ERLIN1 Gene
- ER Lipid Raft Associated 1 2 3 5
- Erlin-1 3 3 4
- Band_7 23-211 Keo4 (Interim) Similar To C.Elegans Protein C42C1.9 2 3
- Stomatin-Prohibitin-Flotillin-HflC/K Domain-Containing Protein 1 3 4
- Endoplasmic Reticulum Lipid Raft-Associated Protein 1 3 4
- SPFH Domain-Containing Protein 1 3 4
- SPFH Domain Family, Member 1 2 3
External Ids for ERLIN1 Gene
Previous HGNC Symbols for ERLIN1 Gene
Previous GeneCards Identifiers for ERLIN1 Gene
The protein encoded by this gene is part of a protein complex that mediates degradation of inositol 1,4,5-trisphosphate receptors in the endoplasmic reticulum. The encoded protein also binds cholesterol and regulates the SREBP signaling pathway, which promotes cellular cholesterol homeostasis. Defects in this gene have been associated with spastic paraplegia 62. [provided by RefSeq, Dec 2016]
GeneCards Summary for ERLIN1 Gene
ERLIN1 (ER Lipid Raft Associated 1) is a Protein Coding gene. Diseases associated with ERLIN1 include Spastic Paraplegia 62, Autosomal Recessive and Paraplegia. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and HIV Life Cycle. An important paralog of this gene is ERLIN2.
UniProtKB/Swiss-Prot Summary for ERLIN1 Gene
Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway. Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618).