REEP1

Chr 2p11.2

receptor accessory protein 1

Aliases:: FLJ13110, SPG31, Yip2a
MANE:: ENST00000538924.7

OMIM: 609139 ↗NCBI: 65055 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

REEP1 · Q9H902

v62025-08-01

Predicted Aligned Error matrix for REEP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

67.3/ 100

Low

201 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)37%
Low(50–70)46%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary spastic paraplegia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Autosomal dominant spastic paraplegia type 31
0.81
hereditary spastic paraplegia 31
0.70
neuronopathy, distal hereditary motor, type 5B
0.59
hereditary spastic paraplegia
0.55
hereditary disease
0.48
spinal muscular atrophy, distal, autosomal recessive, 6
0.47
cardiomyopathy
0.46
Distal hereditary motor neuropathy type 5
0.46
Spastic paraplegia
0.43
atrial fibrillation
0.40

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

Protein function (UniProt)

Receptor expression-enhancing protein 1

Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal maintenance (PubMed:24478229)