human MID1 shRNA silencing Adenovirus

BBBG1; E3 ubiquitin-protein ligase Midline-1; FXY; GBBB1; MIDIN; midline 1 RING finger protein; OGS1; Opitz/BBB syndrome; OS; OSX; putative transcription factor XPRF; RING finger protein 59; RING finger protein Midline-1; RING-type E3 ubiquitin transferase Midline-1; RNF59; TRIM18; tripartite motif protein TRIM18; tripartite motif-containing protein 18; XPRF; zinc finger on X and Y, mouse, homolog of; ZNFXY

Defects in the Midline-1 (MID1) gene are the cause of Opitz syndrome, an X-linked recessive disorder characterized by developmental defects. MID1 is a microtubule-associated protein (MAP) with E3 ubiquitin ligase activity. MID1 has been shown to target protein phosphatases 2A (PP2Ac) on microtubules for degradation. MID1 association with PP2A has been proposed to regulate microtubule stabilization for cellular processes such as cell division and migration.

MID1 is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined.

4281

midline 1

midline 1 (Opitz/BBB syndrome)

MID1

HGNC:7095

9606.0

2004

2004 bp

E3 ubiquitin-protein ligase Midline-1

NM_000381

NM_033290, NM_033289, NM_001193281, NM_001193280, NM_001193279, NM_001193278, NM_001193277, NM_001098624, NM_000381, BC053626,

Cell Cycle,Cytoskeleton,MAPK Signaling,Signal Transduction,Zinc-finger

cell_biology,cell_cycle,genetics,signal_transduction

human

Defects in the Midline-1 (MID1) gene are the cause of Opitz syndrome, an X-linked recessive disorder characterized by developmental defects. MID1 is a microtubule-associated protein (MAP) with E3 ubiquitin ligase activity. MID1 has been shown to target protein phosphatases 2A (PP2Ac) on microtubules for degradation. MID1 association with PP2A has been proposed to regulate microtubule stabilization for cellular processes such as cell division and migration.

Hs.27695

O15344