InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: REEP1

Summary

InnateDB Protein

IDBP-59780.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

REEP1

Protein Name

receptor accessory protein 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000165698

InnateDB Gene

IDBG-59778 (REEP1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:20200447}.

Subcellular Localization

Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum.

Disease Associations

Spastic paraplegia 31, autosomal dominant (SPG31) [MIM:610250]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269PubMed:16826527, ECO:0000269PubMed:20718791, ECO:0000269PubMed:21618648}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neuronopathy, distal hereditary motor, 5B (HMN5B) [MIM:614751]: A disorder characterized by distal muscular atrophy mainly affecting the upper extremities, in contrast to other distal motor neuronopathies. These constitute a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMN5B is characterized by onset in the first or second decade of distal muscle weakness and atrophy, primarily affecting the intrinsic hand muscles, but also affecting the lower legs, resulting in abnormal gait and pes cavus. {ECO:0000269PubMed:22703882}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.