|Other Names||E3 ubiquitin-protein ligase Midline-1, 632-, Midin, Putative transcription factor XPRF, RING finger protein 59, RING finger protein Midline-1, Tripartite motif-containing protein 18, MID1, FXY, RNF59, TRIM18, XPRF|
|Target/Specificity||The synthetic peptide sequence used to generate the antibody AP13465b was selected from the C-term region of MID1. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||FXY, RNF59, TRIM18, XPRF|
|Function||Has E3 ubiquitin ligase activity towards IGBP1, promoting its monoubiquitination, which results in deprotection of the catalytic subunit of protein phosphatase PP2A, and its subsequent degradation by polyubiquitination.|
|Cellular Location||Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle Note=Microtubule-associated. It is associated with microtubules throughout the cell cycle, co-localizing with cytoplasmic fibers in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis|
|Tissue Location||In the fetus, highest expression found in kidney, followed by brain and lung. Expressed at low levels in fetal liver. In the adult, most abundant in heart, placenta and brain|
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The protein encoded by this gene is a member of thetripartite motif (TRIM) family, also known as the 'RING-Bbox-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIMmotif includes three zinc-binding domains, a RING, a B-box type 1and a B-box type 2, and a coiled-coil region. This protein formshomodimers which associate with microtubules in the cytoplasm. Theprotein is likely involved in the formation of multiproteinstructures acting as anchor points to microtubules. Mutations inthis gene have been associated with the X-linked form of Opitzsyndrome, which is characterized by midline abnormalities such ascleft lip, laryngeal cleft, heart defects, hypospadias, andagenesis of the corpus callosum. This gene was also the firstexample of a gene subject to X inactivation in human while escapingit in mouse. Multiple different transcript variants are generatedby alternate splicing; however, the full-length nature of some ofthe variants has not been determined.
Need, A.C., et al. Hum. Mol. Genet. 18(23):4650-4661(2009)Treutlein, J., et al. Arch. Gen. Psychiatry 66(7):773-784(2009)Styrkarsdottir, U., et al. Nat. Genet. 41(1):15-17(2009)Scapoli, L., et al. Eur. J. Oral Sci. 116(6):507-511(2008)Aranda-Orgilles, B., et al. PLoS ONE 3 (10), E3507 (2008) :
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