UBA52

Description

The UBA52 (ubiquitin A-52 residue ribosomal protein fusion product 1) is a protein-coding gene located on chromosome 19.

The UBA52 gene encodes a protein called 60S ribosomal protein L40 (RPL40), which plays a role in protein degradation, gene expression, and stress response. The protein is a fusion of ubiquitin (a protein involved in targeting cellular proteins for degradation) at the N-terminus and ribosomal protein L40 at the C-terminus, a C-terminal extension protein (CEP). The gene has multiple processed pseudogenes present in the genome.

Ubiquitin, a small protein, can exist either attached to another protein or free. When attached, it forms a chain (monoubiquitin, polyubiquitin chains, or linear polyubiquitin chains) that connects to target proteins through an isopeptide bond. Polyubiquitin chains, when attached to a target protein, have different functions depending on the Lys residue of the ubiquitin that is linked: Lys-6-linked may be involved in DNA repair; Lys-11-linked is involved in ERAD (endoplasmic reticulum-associated degradation) and in cell- cycle regulation; Lys-29-linked is involved in proteotoxic stress response and cell cycle; Lys-33-linked is involved in kinase modification; Lys-48-linked is involved in protein degradation via the proteasome; Lys-63-linked is involved in endocytosis, DNA-damage responses as well as in signaling processes leading to activation of the transcription factor NF-kappa-B. Linear polymer chains formed via attachment by the initiator Met lead to cell signaling. Ubiquitin is usually conjugated to Lys residues of target proteins, however, in rare cases, conjugation to Cys or Ser residues has been observed. When polyubiquitin is free (unanchored-polyubiquitin), it also has distinct roles, such as in activation of protein kinases, and in signaling.

UBA52 is also known as CEP52, HUBCEP52, L40, RPL40.

Associated Diseases

WES Whole Exome Sequencing