REEP5
Description
The REEP5 (receptor accessory protein 5) is a protein-coding gene located on chromosome 5.
REEP5, the gene encoding Receptor Expression Enhancing Protein 5, resides on chromosome 5, spanning base pairs 112876385 to 112922289 on the minus strand. The gene contains five exons and is situated between DCP2 and SRP19 genes. The protein itself is a member of the REEP family, known for their role in intracellular trafficking through modifications of the endoplasmic reticulum and their ability to boost G-protein coupled receptor activity. Human REEP5 is composed of 189 amino acids, including two transmembrane regions and a TB2_DP1_HVA22 domain. Its pre-modification mass is 21.5 kDa. The amino acid composition of REEP5 is typical for human proteins. A notable feature is a long stretch of electrically neutral amino acids, though no other significant patterns are observed. An additional, shorter isoform of 131 amino acids exists, resulting from a modification after the 117th amino acid.
REEP5 is crucial for heart development and function. It plays a key role in regulating the structure and activity of the sarcoplasmic reticulum within heart muscle cells (cardiomyocytes).
REEP5 is also known as C5orf18, D5S346, DP1, POB16, TB2, YOP1, Yip2e.
Associated Diseases
- familial adenomatous polyposis 1
- Alzheimer disease
- Parkinson disease
- multiple sclerosis
- lysosomal storage disease
- ovarian cancer
