disease:Defects in MID1 are the cause of Opitz syndrome type I (OS-I) [MIM:300000]. OS-I is an X-linked recessive disorder characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, lip-palate-laryngotracheal clefts, imperforate anus, developmental delay and congenital heart defects. OS-I mutations produce proteins with a decreased affinity for microtubules.,function:May have E3 ubiquitin ligase activity which targets the catalytic subunit of protein phosphatase 2 for degradation.,induction:A retroviral element acts as an alternative tissue-specific promoter for this gene. The LTR of an HERV-E element enhances the expression in placenta and embryonic kidney.,PTM:Phosphorylated on serine and threonine residues.,similarity:Belongs to the TRIM/RBCC family.,similarity:Contains 1 B30.2/SPRY domain.,similarity:Contains 1 COS domain.,similarity:Contains 1 fibronectin type-III domain.,similarity:Contains 1 RING-type zinc finger.,similarity:Contains 2 B box-type zinc fingers.,subcellular location: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.,subunit:Homodimer or heterodimer with MID2. Interacts with IGBP1.,tissue specificity: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.,
Cytoplasm . Cytoplasm, cytoskeleton . Cytoplasm, cytoskeleton, spindle . 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.
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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