The LIR motif interacts with ATG8 family proteins and is necessary to target the ER fragments to autophagosomes for subsequent lysosomal degradation.
The reticulon homology domain provides capacity to bend the membrane and promotes ER scission (PubMed:26040720, PubMed:31930741). It is required for homooligomerization (PubMed:31930741). This domain does not show relevant similarities with reticulon domains, preventing any domain predictions within the protein sequence.
Endoplasmic reticulum (ER)-anchored autophagy regulator which mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720, PubMed:31930741, PubMed:34338405). Promotes membrane remodeling and ER scission via its membrane bending capacity and targets the fragments into autophagosomes via interaction with ATG8 family proteins (PubMed:26040720, PubMed:31930741, PubMed:34338405). Active under basal conditions (PubMed:34338405). Required for collagen quality control in a LIR motif-dependent manner (By similarity). Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720).
(Microbial infection) During SARS-CoV-2 infection, RETREG1-mediated reticulophagy is promoted by SARS-CoV-2 ORF3A protein (PubMed:35239449). This induces endoplasmic reticulum stress and inflammatory responses and facilitates viral infection (PubMed:35239449).
Neuropathy, hereditary sensory and autonomic, 2B
HSAN2B
A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN2B is an autosomal recessive disorder characterized by impairment of pain, temperature and touch sensation. Onset occurs in the first or second decade, with impaired nociception and progressive mutilating ulceration of the hands and feet with osteomyelitis and acroosteolysis. Amputations of the hands and feet are common. Autonomic dysfunction includes hyperhidrosis, urinary incontinence, and slow pupillary light response.
None
The disease is caused by variants affecting the gene represented in this entry.
Phosphorylation at Ser-151 by CAMK2B enhances oligomerization and membrane scission and reticulophagy activity.
Belongs to the RETREG family.
Overexpressed in esophageal squamous cell carcinoma (PubMed:17487424).
FAM134B, JK1, RETREG1, Reticulophagy regulator 1, Reticulophagy receptor 1
Proteins
Neuroscience
54681Da
We found 1 product in 1 category