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Midline 1

Midline, MID1
The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010] (from NCBI)
Papers on Midline
Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1).
GeneRIF
Schweiger et al., Berlin, Germany. In J Biol Chem, 2011
Protein phosphatase 2A (PP2A)-specific ubiquitin ligase MID1 is a sequence-dependent regulator of translation efficiency controlling 3-phosphoinositide-dependent protein kinase-1 (PDPK-1).
Control of mTORC1 signaling by the Opitz syndrome protein MID1.
GeneRIF
Chiang et al., Los Angeles, United States. In Proc Natl Acad Sci U S A, 2011
mTORC1 signaling as a downstream pathway regulated by the MID1/PP2A axis, suggesting that mTORC1 plays a key role in Opitz syndrome pathogenesis.
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.
GeneRIF
Nordenskjöld et al., Jinan, China. In J Hum Genet, 2011
Our finding suggests that hypospadias associated with hypertelorism is the mildest phenotype in OS caused by MID1 mutations.
Detection and characterization of the in vitro e3 ligase activity of the human MID1 protein.
GeneRIF
Massiah et al., Stillwater, United States. In J Mol Biol, 2011
These studies shed light on MID1 E3 ligase activity and show how its three zinc-binding domains can contribute to MID1's overall function.
Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis.
GeneRIF
Meroni et al., Napoli, Italy. In J Neurosci, 2010
Thus, lack of Mid1 causes a misspecification of the midbrain/cerebellar boundary that results in an abnormal development of the most anterior cerebellar lobes.
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