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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
REEP1
receptor accessory protein 1
Chromosome 2 Β· 2p11.2
NCBI Gene: 65055Ensembl: ENSG00000068615.20HGNC: HGNC:25786UniProt: A0A1C7CYY3
47PubMed Papers
23Diseases
0Drugs
89Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmendoplasmic reticulummembraneprotein insertion into membraneAutosomal dominant spastic paraplegia type 31hereditary spastic paraplegia 31neuronopathy, distal hereditary motor, type 5Bhereditary spastic paraplegia
✦AI Summary

REEP1 (receptor expression-enhancing protein 1) is a membrane-shaping protein that plays critical roles in endoplasmic reticulum (ER) structure and neuronal maintenance. REEP1 generates membrane curvature to create ER-derived vesicular compartments that cycle back to the ER through atlastin-mediated fusion 1. The protein is involved in ER morphogenesis and remodeling, and contributes to microtubule cytoskeleton regulation 2. Mutations in REEP1 that compromise curvature generation relocalize the protein to the bulk ER and can retain wild-type proteins there through dominant-negative effects 1. REEP1 mutations are associated with hereditary spastic paraplegia (HSP) type 31 and distal hereditary motor neuropathy 34. In HSP cohort studies, REEP1 represents more than 1% of cases and structural variants account for a significant proportion of pathogenic mutations 3. The protein belongs to the REEP1-4 subfamily and is involved in ER tubular network organization 5. Disease-causing mutations appear to disrupt the protein's membrane curvature-generating function, leading to neurodegenerative phenotypes characterized by motor neuron dysfunction 1.

Sources cited
1
REEP1 generates ER-derived vesicular compartments and disease mutations compromise curvature generation
PMID: 39368994
2
REEP family involvement in ER morphogenesis and microtubule cytoskeleton regulation
PMID: 36191880
3
REEP1 represents >1% of HSP cases and structural variants are significant proportion of pathogenic mutations
PMID: 34983064
4
REEP1 mutations associated with distal hereditary motor neuropathy
PMID: 38702287
5
REEP1 belongs to proteins involved in ER morphology and HSP pathogenesis
PMID: 23897027
Disease Associationsβ“˜23
Autosomal dominant spastic paraplegia type 31Open Targets
0.81Strong
hereditary spastic paraplegia 31Open Targets
0.71Strong
neuronopathy, distal hereditary motor, type 5BOpen Targets
0.58Moderate
hereditary spastic paraplegiaOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.48Moderate
spinal muscular atrophy, distal, autosomal recessive, 6Open Targets
0.47Moderate
cardiomyopathyOpen Targets
0.46Moderate
Distal hereditary motor neuropathy type 5Open Targets
0.46Moderate
atrial fibrillationOpen Targets
0.44Moderate
Spastic paraplegiaOpen Targets
0.43Moderate
smoking initiationOpen Targets
0.38Weak
hypertensionOpen Targets
0.37Weak
essential hypertensionOpen Targets
0.31Weak
alcohol drinkingOpen Targets
0.29Weak
occlusion precerebral arteryOpen Targets
0.23Weak
strokeOpen Targets
0.23Weak
cervical carcinomaOpen Targets
0.22Weak
systemic inflammatory response syndromeOpen Targets
0.22Weak
autosomal dominant complex spastic paraplegiaOpen Targets
0.18Weak
Charcot-Marie-Tooth diseaseOpen Targets
0.15Weak
Neuronopathy, distal hereditary motor, autosomal dominant 12UniProt
Neuronopathy, distal hereditary motor, autosomal recessive 6UniProt
Spastic paraplegia 31, autosomal dominantUniProt
Pathogenic Variants89
NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg)Likely pathogenic
Hereditary spastic paraplegia 31|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 19
NM_001371279.1(REEP1):c.303+1G>ALikely pathogenic
not provided|Hereditary spastic paraplegia 31
β˜…β˜…β˜†β˜†2025
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)Pathogenic
Hereditary spastic paraplegia 31|Spastic paraplegia|not provided|Hereditary spastic paraplegia|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 20
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)Pathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 113
NM_001371279.1(REEP1):c.33-2A>GPathogenic
Hereditary spastic paraplegia 31|Spastic paraplegia|Hereditary spastic paraplegia|not provided
β˜…β˜…β˜†β˜†2025
NM_001371279.1(REEP1):c.106-2A>TPathogenic
Hereditary spastic paraplegia 31|not provided
β˜…β˜…β˜†β˜†2025
NM_001371279.1(REEP1):c.248del (p.Gly83fs)Likely pathogenic
Neuronopathy, distal hereditary motor, type 5B|Spinal muscular atrophy, distal, autosomal recessive, 6|Neuronopathy, distal hereditary motor, type 5B;Hereditary spastic paraplegia 31
β˜…β˜…β˜†β˜†2024β†’ Residue 83
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter)Pathogenic
Hereditary spastic paraplegia 31|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 65
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)Pathogenic
Hereditary spastic paraplegia 31|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 1
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter)Pathogenic
Hereditary spastic paraplegia 31|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 115
NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs)Pathogenic
Hereditary spastic paraplegia 31|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 85
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)Pathogenic
Hereditary spastic paraplegia 31
β˜…β˜…β˜†β˜†2023β†’ Residue 19
NM_001371279.1(REEP1):c.417+1G>APathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia
β˜…β˜…β˜†β˜†2022
NM_001371279.1(REEP1):c.512del (p.Pro171fs)Pathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia
β˜…β˜…β˜†β˜†2022β†’ Residue 171
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)Pathogenic
not provided|Hereditary spastic paraplegia 31
β˜…β˜…β˜†β˜†2021β†’ Residue 61
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs)Likely pathogenic
Hereditary spastic paraplegia 31|not provided
β˜…β˜…β˜†β˜†2017β†’ Residue 180
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)Pathogenic
Hereditary spastic paraplegia 31|Hereditary spastic paraplegia
β˜…β˜…β˜†β˜†2017β†’ Residue 38
NM_001371279.1(REEP1):c.182+1G>ALikely pathogenic
Hereditary spastic paraplegia 31
β˜…β˜†β˜†β˜†2026
NM_001371279.1(REEP1):c.105+2T>CPathogenic
Hereditary spastic paraplegia 31
β˜…β˜†β˜†β˜†2025
NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg)Likely pathogenic
Hereditary spastic paraplegia 31
β˜…β˜†β˜†β˜†2025β†’ Residue 118
View on ClinVar β†—
Related Genes
ATL2Protein interaction98%ZFYVE27Protein interaction88%NIPA1Protein interaction87%BSCL2Protein interaction78%RTN2Protein interaction77%SPASTProtein interaction77%
Tissue Expression6 tissues
Heart
100%
Brain
57%
Lung
8%
Ovary
3%
Liver
2%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
REEP1ATL2ZFYVE27NIPA1BSCL2RTN2SPAST
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H902
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.64 [0.45–0.92]
RankingsWhere REEP1 stands among ~20K protein-coding genes
  • #9,266of 20,598
    Most Researched47
  • #850of 5,498
    Most Pathogenic Variants89 Β· top quartile
  • #8,369of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedREEP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
PMID: 34983064
Brain Β· 2022
1.00
2
Distal hereditary motor neuropathies.
PMID: 38702287
Rev Neurol (Paris) Β· 2024
0.90
3
Potential role of mitochondria-associated endoplasmic reticulum membrane proteins in diseases.
PMID: 35314166
Biochem Pharmacol Β· 2022
0.80
4
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.70
5
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
PMID: 23897027
Acta Neuropathol Β· 2013
0.60