RETREG1

Chr 5p15.1

reticulophagy regulator 1

Aliases:: FLJ20152, JK1
MANE:: ENST00000306320.10

OMIM: 613114 ↗NCBI: 54463 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RETREG1 · Q9H6L5

v62025-08-01

Predicted Aligned Error matrix for RETREG1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.7/ 100

Low

497 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)29%
Low(50–70)41%
Very low(< 50)30%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Familial dysautonomia
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Pain syndromes
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

hereditary sensory and autonomic neuropathy type 2
0.74
hereditary sensory and autonomic neuropathy
0.50
hereditary disease
0.49
dengue disease
0.37
Subdural hemorrhage
0.29
Charcot-Marie-Tooth disease
0.16
exostosis
0.14
Genu valgum
0.14
Genu varum
0.14
hereditary spastic paraplegia
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Reticulophagy regulator 1

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)