REEP1 - receptor accessory protein 1 Gene
Also Known as DSMA6; HMN5B; SPG31; Yip2a; C2orf23
Species: Homo sapiens
About REEP1
This gene has 22 transcripts (splice variants), 210 orthologues, 5 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 30.1), brain (RPKM 18.8) and 11 other tissues.
Summary
This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
REEP1 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001164730.2 | NP_001158202.1 | receptor expression-enhancing protein 1 isoform 1 |
| NM_001164731.2 | NP_001158203.1 | receptor expression-enhancing protein 1 isoform 3 |
| NM_001164732.2 | NP_001158204.1 | receptor expression-enhancing protein 1 isoform 4 |
| NM_001371279.1 | NP_001358208.1 | receptor expression-enhancing protein 1 isoform 5 |
| NM_001371280.1 | NP_001358209.1 | receptor expression-enhancing protein 1 isoform 6 |
| NM_001410855.1 | NP_001397784.1 | receptor expression-enhancing protein 1 isoform 7 |
| NM_001410856.1 | NP_001397785.1 | receptor expression-enhancing protein 1 isoform 8 |
| NM_022912.3 | NP_075063.1 | receptor expression-enhancing protein 1 isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables microtubule binding |
IDA
IDA: Inferred from direct assay
|
20200447 | GOA |
| enables olfactory receptor binding |
IMP
IMP: Inferred from mutant phenotype
|
15550249 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20200447 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in endoplasmic reticulum tubular network organization |
IMP
IMP: Inferred from mutant phenotype
|
20200447 | GOA |
| involved in protein insertion into membrane |
IDA
IDA: Inferred from direct assay
|
15550249 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
15550249 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
20200447 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
20200447 | GOA |
REEP1 Protein Structure
TB2_DP1_HVA22: TB2/DP1, HVA22 family (5 - 95)
- 0
- 100
- 201 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
receptor expression-enhancing protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paraplegia 31, Autosomal Dominant |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
|
| Paraplegia |
|
|
| Hereditary Spastic Paraplegia 30 |
|
|
| Spastic Paraplegia 26, Autosomal Recessive |
|
|
| Spastic Paraplegia 18, Autosomal Recessive |
|
|
| Spastic Paraplegia 61, Autosomal Recessive |
|
|
| Spastic Paraplegia 42, Autosomal Dominant |
|
|
| Spastic Paraplegia 78, Autosomal Recessive |
|
|
| Masa Syndrome |
|
|
| Motor Peripheral Neuropathy |
|
|
| Spastic Paraplegia 57, Autosomal Recessive |
|
|
| Spastic Paraplegia 75, Autosomal Recessive |
|
|
| Spastic Paraplegia 13, Autosomal Dominant |
|
|
| Spastic Paraplegia 10, Autosomal Dominant |
|
|
| Spastic Paraplegia 2, X-Linked |
|
|
| Neuropathy, Hereditary Sensory, Type Iic |
|
|
| Spastic Paraplegia 17, Autosomal Dominant |
|
|
| Spastic Paraplegia 73, Autosomal Dominant |
|
|
| Spastic Paraplegia 62, Autosomal Recessive |
|
|
| Spastic Ataxia 2 |
|
|
| Spastic Paraplegia 3, Autosomal Dominant |
|
|
| Spastic Paraplegia 54, Autosomal Recessive |
|
|
| Spastic Paraplegia 9a, Autosomal Dominant |
|
|
| Spastic Paraplegia 15, Autosomal Recessive |
|
|
| Hereditary Spastic Paraplegia 35 |
|
|
| Spastic Paraplegia 4, Autosomal Dominant |
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
|
| Spastic Paraplegia 12, Autosomal Dominant |
|
|
| Autosomal Recessive Distal Hereditary Motor Neuronopathy |
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
|
| Spastic Paraplegia 19, Autosomal Dominant |
|
|
| Nescav Syndrome |
|
|
| Spastic Paraplegia 20, Autosomal Recessive |
|
|
| Distal Hereditary Motor Neuronopathy Type 7 |
|
|
| Muscular Atrophy |
|
|
| Arthrogryposis, Distal, Type 10 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Distal Hereditary Motor Neuronopathy Type 2 |
|
|
| Spastic Ataxia |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Neuromuscular Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | REEP1 | VGNC | VGNC:64562 |
| Rattus norvegicus | REEP1 | RGD | RGD:1305230 |
| Macaca mulatta | REEP1 | VGNC | VGNC:106207 |
| Bos taurus | REEP1 | VGNC | VGNC:33851 |
| Mus musculus | REEP1 | MGD | MGI:1098827 |
| Canis familiaris | REEP1 | VGNC | VGNC:45460 |
| Others | REEP1 | NCBI |