MID1

Midline-1 ;
Midin ;
Midline 1 RING finger protein ;
Putative transcription factor XPRF ;
RING finger protein 59 ;
Tripartite motif-containing protein 18 ;

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.,

microtubule cytoskeleton organization, proteolysis, cytoskeleton organization, microtubule-based process, negative regulation of microtubule depolymerization, pattern specification process, macromolecule catabolic process, negative regulation of organelle organization, modification-dependent protein catabolic process, protein catabolic process,regulation of microtubule polymerization or depolymerization, negative regulation of microtubule polymerization or depolymerization, regulation of microtubule depolymerization, regulation of microtubule-based process, regulation of organelle organization, negative regulation of protein complex disassembly, regulation of protein complex disassembly, modification-dependent macromolecule catabolic process, cellular protein catabolic process, cellular macromolecule catabolic process, negative regulation of cellular component organization, regulation of cytoskeleton organization, negative regulation of cytoskeleton organization, proteolysis involved in cellular protein catabolic process, regulation of microtubule cytoskeleton organization,

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.