The OBSL1 gene provides instructions for making a protein that is thought to help maintain normal levels of another protein called cullin-7, which is produced from the CUL7 gene. The cullin-7 protein plays a role in the ubiquitin-proteasome system, which is the cell machinery that breaks down (degrades) unwanted proteins.
Cullin-7 helps assemble a complex known as an E3 ubiquitin ligase. This complex tags damaged and excess proteins with molecules called ubiquitin. Ubiquitin serves as a signal to specialized cell structures known as proteasomes, which attach (bind) to the tagged proteins and degrade them. The ubiquitin-proteasome system acts as the cell’s quality control system by disposing of damaged, misshapen, and excess proteins. This system also regulates the level of proteins involved in several critical cell activities such as the timing of cell division and growth. In particular, the OBSL1 protein and cullin-7 are thought to help regulate proteins involved in the body’s response to growth hormones, although their specific role in this process is unknown.
Other Names
KIAA0657; obscurin-like protein 1 isoform 1 precursor; obscurin-like protein 1 isoform 2 precursor; obscurin-like protein 1 isoform 3 precursor
Related Genetics Topics
Identifiers
- NCBI Gene: 23363
- OMIM: 610991
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
