E3 ubiquitin-protein ligase required to prevent centriole reduplication (PubMed:15885686, PubMed:23769972). Probably acts by ubiquitinating positive regulators of centriole reduplication (PubMed:23769972). Mediates monoubiquitination of 'Lys-119' of histone H2A (H2AK119Ub), a specific tag for epigenetic transcriptional repression: associates with some Polycomb group (PcG) multiprotein PRC2-like complex and mediates repression of target genes (PubMed:25470042). Also acts as a positive regulator of peroxisome import by mediating monoubiquitination of PEX5 at 'Lys-472': monoubiquitination promotes PEX5 stabilitation by preventing its polyubiquitination and degradation by the proteasome (PubMed:28724525). Has anti-HIV activity (PubMed:24317724).
Mulibrey nanism
MUL
An autosomal recessive growth disorder characterized by severe growth failure of prenatal onset, constrictive pericardium and progressive cardiomyopathy, facial dysmorphism, and failure of sexual maturation. Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin resistance with type 2 diabetes, and an increased risk for Wilms' tumor.
None
The disease is caused by variants affecting the gene represented in this entry.
Protein modification; protein ubiquitination.
Auto-ubiquitinated.
Belongs to the TRIM/RBCC family.
Ubiquitous (PubMed:10888877). Highly expressed in testis, while it is weakly expressed in other tissues (PubMed:16310976).
KIAA0898, MUL, POB1, TRIM37, E3 ubiquitin-protein ligase TRIM37, Mulibrey nanism protein, RING-type E3 ubiquitin transferase TRIM37, Tripartite motif-containing protein 37
Proteins
Oncology
107906Da
We found 4 products in 2 categories
ab238156
ab264190
ab264189