RING1
Description
The RING1 (ring finger protein 1) is a protein-coding gene located on chromosome 6.
RING1 is a human gene encoding an enzyme belonging to the RING finger family. These proteins have a zinc-binding motif called the RING domain and are characterized by their ability to bind DNA and act as transcriptional repressors. RING1 is associated with the multimeric Polycomb group (PcG) protein complex and interacts with several PcG proteins, including BMI1, EDR1, and CBX4. The gene maps to the HLA class II region and interacts with proteins like CBX8, BMI1, and RYBP. RING1 plays a crucial role in gene regulation and participates in the formation of multiple protein complexes involved in chromatin modification and silencing.
RING1 is an E3 ubiquitin ligase that specifically adds a single ubiquitin molecule to lysine 119 of histone H2A. This modification is crucial for the histone code, gene regulation, and epigenetic silencing. It plays a central role in X chromosome inactivation in females. As a component of the Polycomb group (PcG) PRC1-like complex, RING1 contributes to the maintenance of repressive chromatin states, particularly for developmental genes like Hox genes. Notably, while RING1 can interact with other E3 ligases, it doesn't have the primary activity on histone H2A, suggesting a role in modulating the activity of other enzymes.
RING1 is also known as RING1A, RNF1.
Associated Diseases
- ovarian cancer
- endometrial cancer
- esophageal cancer
- asthma
- autosomal recessive spondylocostal dysostosis
- Scheuermann disease
- brachyolmia, Maroteaux type
- spondyloepiphyseal dysplasia tarda, Kohn type
- autosomal dominant brachyolmia
- spondylocamptodactyly syndrome
- Prata-Liberal-Goncalves syndrome
- osteomesopyknosis
- autosomal dominant spondylocostal dysostosis
- primary basilar invagination
- Klippel-Feil syndrome 3, autosomal dominant
- cancer
- posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- galactosialidosis
- mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
