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TRIM37 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: EC 6.3.2.-; Ligase; Oncoprotein; Ubiquitin conjugating system; Ubiquitin ligase
Chromosomal Location of Human Ortholog: 17q22
Cellular Component: cytoplasm; cytosol; ESC/E(Z) complex; perinuclear region of cytoplasm; peroxisome
Molecular Function: chromatin binding; protein binding; protein homodimerization activity; tumor necrosis factor receptor binding; ubiquitin protein ligase binding; ubiquitin-protein transferase activity; zinc ion binding
Biological Process: negative regulation of centriole replication; negative regulation of NF-kappaB transcription factor activity; negative regulation of transcription from RNA polymerase II promoter; positive regulation of NF-kappaB transcription factor activity; positive regulation of transcription factor activity; protein autoubiquitination; transcription, DNA-dependent
Disease: Mulibrey Nanism
Reference #:  O94972 (UniProtKB)
Alt. Names/Synonyms: E3 ubiquitin-protein ligase TRIM37; KIAA0898; MUL; Mulibrey nanism protein; POB1; RING-B-box-coiled-coil protein; TEF3; TRI37; TRIM37; tripartite motif-containing 37; Tripartite motif-containing protein 37
Gene Symbols: TRIM37
Molecular weight: 107,906 Da
Basal Isoelectric point: 5.04  Predict pI for various phosphorylation states
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