Family

Midline-1 (IPR027727)

Short name: MID1

Family relationships

None.

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 [PMID: 10077590]. 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 [PMID: 10400985, PMID: 11685209, PMID: 22613722].

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 [PMID: 9354791, PMID: 11030761, PMID: 15558842].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER