ERLIN1
Function
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 (PubMed:37683630). Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618).
(Microbial infection) Required early in hepatitis C virus (HCV) infection to initiate RNA replication, and later in the infection to support infectious virus production.
Involvement in disease
Spastic paraplegia 62, autosomal recessive
SPG62
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Deubiquitinated by USP25; leading to stabilization.
Sequence Similarities
Belongs to the band 7/mec-2 family.
Tissue Specificity
Expressed in heart, placenta, liver, kidney, pancreas, prostate, testis, ovary and small intestine.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type II membrane protein
- Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
Alternative names
C10orf69, KE04, KEO4, SPFH1, ERLIN1, Erlin-1, Endoplasmic reticulum lipid raft-associated protein 1, Protein KE04, Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 1, SPFH domain-containing protein 1