E3 ubiquitin-protein ligase. Defects in TRIM37 are the cause of mulibrey nanism (MUL); also known as muscle-liver-brain-eye nanism. MUL is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common. Belongs to the TRIM/RBCC family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Ubiquitin conjugating system; Ubiquitin ligase; Ligase; EC 6.3.2.-
Chromosomal Location of Human Ortholog: 17q23.2
Cellular Component: perinuclear region of cytoplasm; cytoplasm; peroxisome; cytosol
Molecular Function: protein binding; protein homodimerization activity; zinc ion binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; tumor necrosis factor receptor binding; ligase activity
Biological Process: protein autoubiquitination; inhibition of NF-kappaB transcription factor; positive regulation of transcription factor activity; negative regulation of centriole replication; activation of NF-kappaB transcription factor
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.