RETREG1

The protein encoded by this gene is a cis-Golgi transmembrane protein that may be necessary for the long-term survival of nociceptive and autonomic ganglion neurons. Mutations in this gene are a cause of hereditary sensory and autonomic neuropathy type IIB (HSAN IIB), and this gene may also play a role in susceptibility to vascular dementia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Full Name

Reticulophagy Regulator 1

Function

Endoplasmic reticulum-anchored autophagy receptor that mediates ER delivery into lysosomes through sequestration into autophagosomes (PubMed:26040720).
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).
Required for long-term survival of nociceptive and autonomic ganglion neurons (PubMed:19838196, PubMed:26040720).

Biological Process

Biological Process collagen catabolic processIEA:Ensembl
Biological Process endoplasmic reticulum organizationIEA:Ensembl
Biological Process mitophagyIEA:Ensembl
Biological Process negative regulation of neuron apoptotic processManual Assertion Based On ExperimentIMP:GO_Central
Biological Process reticulophagyManual Assertion Based On ExperimentIMP:GO_Central
Biological Process sensory perception of painManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process white fat cell differentiationIEA:Ensembl

Cellular Location

Golgi apparatus, cis-Golgi network membrane
Endoplasmic reticulum membrane

Involvement in disease

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.

Topology

Cytoplasmic: 1-59
Helical: 60-80
Lumenal: 81-95
Helical: 96-116
Cytoplasmic: 117-118
Helical: 119-139
Lumenal: 140-208
Helical: 209-229
Cytoplasmic: 230-497