RETREG1 (Reticulophagy Regulator 1)
Key regulator of reticulophagy and endoplasmic reticulum turnover; associated with hereditary sensory and autonomic neuropathy type IIB
Gene Information Card
| Symbol | RETREG1 |
|---|---|
| Full Name | Reticulophagy Regulator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p15.1 |
| NCBI Gene ID | 54463 ncbi.nlm.nih.gov/gene/54463 |
| Ensembl ID | ENSG00000154153 |
| UniProt ID | Q9H6L5 |
| OMIM ID | 613114 |
| HGNC ID | 25964 |
| Aliases | FAM134B, JK1, HSPC065 |
Description
RETREG1 (reticulophagy regulator 1), also known as FAM134B, encodes a protein that functions as a receptor for reticulophagy, a selective autophagy process that degrades portions of the endoplasmic reticulum. The protein contains a reticulon homology domain that binds to LC3 and GABARAP family proteins, facilitating ER turnover. Mutations in RETREG1 cause hereditary sensory and autonomic neuropathy type IIB (HSAN2B), a severe peripheral neuropathy characterized by loss of pain and temperature sensation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary sensory and autonomic neuropathy type IIB (HSAN2B) | Loss-of-function mutations impair reticulophagy, leading to ER stress and neuronal degeneration | OMIM #613114; Kurth et al., 2009, Nat Genet |
| Esophageal squamous cell carcinoma | Downregulation of RETREG1 may contribute to tumor progression | COSMIC; multiple studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 10.2 | Medium |
| Peripheral nerve | 8.9 | Medium |
| Skin | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HeLa (cervical carcinoma) | 8.5 | Epithelial |
| HEK293 (embryonic kidney) | 7.2 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.565C>T (p.Arg189*) | Nonsense | Rare | Loss of function; truncation of reticulon homology domain |
| c.1030C>T (p.Arg344*) | Nonsense | Rare | Loss of function; premature stop |
| c.742_743del (p.Leu248fs) | Frameshift | Rare | Loss of function; protein truncation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in RETREG1 lead to truncated proteins lacking functional domains, impairing reticulophagy and causing ER stress.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • macroautophagy (GO:0016236) | • endoplasmic reticulum (GO:0005783) |
| • response to ER stress (GO:0034976) | • identical protein binding (GO:0042802) |
| • protein binding (GO:0005515) |
Pathways
• Reticulophagy (selective autophagy of the ER)
• Autophagy - animal (KEGG: hsa04140)
Protein Summary
RETREG1 (FAM134B) is a 497-amino acid transmembrane protein localized to the endoplasmic reticulum. It contains an N-terminal reticulon homology domain (RHD) that mediates ER curvature and a C-terminal LC3-interacting region (LIR) that recruits autophagic machinery. The protein is essential for maintaining ER homeostasis by targeting ER fragments for autophagic degradation. Loss of function leads to ER expansion and neuronal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RETREG1 Knockout HEK293 Cell Line | EDJ-KQ978 | Human | 54463 | Details Get a Quote |
| RETREG1 Knockout HCT 116 Cell Line | EDJ-KQ19999 | Human | 54463 | Details Get a Quote |
| RETREG1 Knockout HeLa Cell Line | EDJ-KQ20000 | Human | 54463 | Details Get a Quote |
| RETREG1 Knockout A-549 Cell Line | EDJ-KQ18677 | Human | 54463 | Details Get a Quote |
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