REEP1 Gene - Receptor Expression Enhancing Protein 1
Key regulator of endoplasmic reticulum morphology and hereditary spastic paraplegia pathogenesis
Gene Information Card
| Symbol | REEP1 |
|---|---|
| Full Name | Receptor Accessory Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 65055 ncbi.nlm.nih.gov/gene/65055 |
| Ensembl ID | ENSG00000168615 |
| UniProt ID | Q9H6A9 |
| OMIM ID | 609139 |
| HGNC ID | 25786 |
| Aliases | SPG31, C2orf23, Yip2a, HSA275071 |
Description
REEP1 (Receptor Accessory Protein 1) encodes a protein that belongs to the REEP/Yip family, which is involved in shaping the endoplasmic reticulum (ER) and promoting ER tubule formation. The protein interacts with microtubules and is essential for maintaining ER network morphology. Mutations in REEP1 are a cause of hereditary spastic paraplegia type 31 (SPG31), an autosomal dominant neurodegenerative disorder characterized by progressive lower limb spasticity and weakness.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary Spastic Paraplegia 31 (SPG31) | Loss-of-function mutations impair ER tubule formation and microtubule interaction, leading to axonal degeneration of corticospinal tracts. | ClinVar, OMIM |
| Distal Hereditary Motor Neuropathy (dHMN) | Rare missense variants disrupt protein stability and ER shaping, causing peripheral motor neuron degeneration. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal Cord | 10.3 | Medium |
| Testis | 8.7 | Medium |
| Heart | 6.2 | Low |
| Skeletal Muscle | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.2 | Neuronal model |
| HeLa (cervical carcinoma) | 8.9 | Epithelial |
| HEK293 (embryonic kidney) | 7.5 | Common cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.59C>T (p.Ser20Leu) | Missense | <0.01% | Reduced protein stability; associated with SPG31 |
| c.174_175del (p.Glu59fs) | Frameshift | <0.01% | Loss of function; truncation |
| c.364C>T (p.Arg122*) | Nonsense | <0.01% | Premature stop; loss of ER shaping domain |
Mutation functional classification
Loss of Function (LOF)
Most SPG31-associated mutations (nonsense, frameshift, missense) lead to reduced or absent protein function, impairing ER tubule formation and microtubule binding.
Gain of Function (GOF)
Not reported for REEP1.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with wild-type REEP1 oligomerization and ER shaping.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endoplasmic reticulum tubular network formation
• Microtubule-mediated ER positioning
• Hereditary spastic paraplegia pathway
Protein Summary
REEP1 is a 201-amino acid protein with two transmembrane domains and a C-terminal microtubule-binding domain. It localizes to the endoplasmic reticulum and promotes the formation of ER tubules by interacting with the microtubule cytoskeleton. The protein is highly expressed in neurons and is critical for maintaining ER morphology in long axons. Loss of REEP1 function leads to ER fragmentation and axonal degeneration, underlying the pathogenesis of hereditary spastic paraplegia type 31.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| REEP1 Knockout HEK293 Cell Line | EDJ-KQ12010 | Human | 65055 | Details Get a Quote |
| REEP1 Knockout HCT 116 Cell Line | EDJ-KQ40601 | Human | 65055 | Details Get a Quote |
| REEP1 Knockout HeLa Cell Line | EDJ-KQ40602 | Human | 65055 | Details Get a Quote |
| REEP1 Knockout A-549 Cell Line | EDJ-KQ65612 | Human | 65055 | Details Get a Quote |
