TRIM37 Recombinant Protein

This gene encodes a member of the tripartite motif (TRIM) family, whose members are involved in diverse cellular functions such as developmental patterning and oncogenesis. The TRIM motif includes zinc-binding domains, a RING finger region, a B-box motif and a coiled-coil domain. The RING finger and B-box domains chelate zinc and might be involved in protein-protein and/or protein-nucleic acid interactions. The gene mutations are associated with mulibrey (muscle-liver-brain-eye) nanism, an autosomal recessive disorder that involves several tissues of mesodermal origin. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

Function: E3 ubiquitin-protein ligase required to prevent centriole reduplication. Probably acts by ubiquitinating positive regulators of centriole reduplication. Ref.8 Ref.9

Pathway: Protein modification; protein ubiquitination.

Subcellular location: Cytoplasm › perinuclear region. Peroxisome. Note: Found in vesicles of the peroxisome. Aggregates as aggresomes, a perinuclear region where certain misfolded or aggregated proteins are sequestered for proteasomal degradation. Ref.6 Ref.8 Ref.9

Tissue specificity: Ubiquitous. Ref.5

Post-translational modification: Auto-ubiquitinated.

Involvement in disease: Mulibrey nanism (MUL) [MIM:253250]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Ref.7 Ref.8 Ref.10 Ref.11

Sequence similarities: Belongs to the TRIM/RBCC family.Contains 1 B box-type zinc finger.Contains 1 MATH domain.Contains 1 RING-type zinc finger.

Sequence caution: The sequence BAA74921.1 differs from that shown. Reason: Erroneous initiation.