RPL14
Description
The RPL14 (ribosomal protein L14) is a protein-coding gene located on chromosome 3.
The RPL14 gene encodes a protein called 60S ribosomal protein L14, which is part of the large subunit (60S) of the ribosome, the cellular machinery responsible for protein synthesis. Ribosomes consist of a small (40S) and a large (60S) subunit, together composed of RNA and various proteins. RPL14 belongs to the L14E family of ribosomal proteins and contains a basic region-leucine zipper (bZIP)-like domain. It is located in the cytoplasm. The gene contains a repeat tract of three nucleotides (GCT), which is highly variable in length, resulting in a stretch of alanine residues in the encoded protein. There are different versions of the RPL14 transcript, using alternative polyA signals and 5' start sites, but they all encode the same protein. Like other genes encoding ribosomal proteins, RPL14 has multiple processed pseudogenes scattered throughout the genome.
This protein is a component of the large ribosomal subunit, which is responsible for protein synthesis in the cell. This has been experimentally demonstrated (PubMed:23636399, PubMed:32669547). The protein's role in the ribosome has also been inferred from its structure (PubMed:12962325).
RPL14 is also known as CAG-ISL-7, CTG-B33, L14, RL14, eL14, hRL14.
Associated Diseases
- Duchenne muscular dystrophy
- cystic fibrosis
- Becker muscular dystrophy
- qualitative or quantitative defects of dystrophin
- colorectal cancer
- aniridia
- Alport syndrome
- hemophilia A
- cystinosis
- hemophilia B
- polyp of colon
