MID1
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.
Involvement in disease
Opitz GBBB syndrome
GBBB
A congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.
None
The disease is caused by variants affecting the gene represented in this entry. MID1 mutations produce proteins with a decreased affinity for microtubules.
Post-translational modifications
Phosphorylated on serine and threonine residues.
Sequence Similarities
Belongs to the TRIM/RBCC family.
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.
Cellular localization
- 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.
Alternative names
FXY, RNF59, TRIM18, XPRF, MID1, E3 ubiquitin-protein ligase Midline-1, Midin, Putative transcription factor XPRF, RING finger protein 59, RING finger protein Midline-1, RING-type E3 ubiquitin transferase Midline-1, Tripartite motif-containing protein 18