NP_001005207.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
E3 ubiquitin-protein ligase TRIM37
NCBI Official Synonym Full Names
tripartite motif containing 37
NCBI Protein Information
E3 ubiquitin-protein ligase TRIM37
UniProt Protein Name
E3 ubiquitin-protein ligase TRIM37
UniProt Synonym Protein Names
Mulibrey nanism protein
UniProt Entry Name
TRI37_HUMAN
NCBI Summary for TRIM37
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]
UniProt Comments for TRIM37
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.
Protein type: Oncoprotein; Ubiquitin conjugating system; Ligase; Ubiquitin ligase; EC 6.3.2.-
Chromosomal Location of Human Ortholog: 17q23.2
Cellular Component: cytoplasm; cytosol; ESC/E(Z) complex; perinuclear region of cytoplasm; peroxisome
Molecular Function: chromatin binding; ligase activity; protein binding; protein homodimerization activity; tumor necrosis factor receptor binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; zinc ion binding
Biological Process: activation of NF-kappaB transcription factor; inhibition of NF-kappaB transcription factor; negative regulation of centriole replication; negative regulation of transcription from RNA polymerase II promoter; positive regulation of transcription factor activity; protein autoubiquitination; transcription, DNA-dependent
Disease: Mulibrey Nanism
Research Articles on TRIM37
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Products associated with anti-TRIM37 antibody
Pathways associated with anti-TRIM37 antibody
Diseases associated with anti-TRIM37 antibody
Organs/Tissues associated with anti-TRIM37 antibody
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