| Primary Identifier | IPR027727 | Type | Family |
| Short Name | MID1 |
| description | This entry represents Midline-1. Midline-1 is associated with microtubules throughout the cell cycle, co-localising with cytoplasmic fibres in interphase and with the mitotic spindle and midbodies during mitosis and cytokinesis []. It 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 [, , ]. Defects in the midline-1 gene are the cause of Opitz GBBB syndrome 1 (OGS1), which is characterised by hypertelorism, genital-urinary defects, lip-palate-laryngotracheal clefts, developmental delay and congenital heart defects [, , ]. |
