Rabbit anti-Human MID1 Polyclonal Antibody

Uniprot Id

O15344

Target Species

Human

Target Name

MID1

Target Full Name

E3 ubiquitin-protein ligase Midline-1

Target 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.

Target Involvement

Opitz GBBB syndrome 1 (GBBB1)

Target Subcellular Location

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Note=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.

Target Protein Families

TRIM/RBCC family

Target 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.

Target Synonyms

BBBG 1; BBBG1; E3 ubiquitin-protein ligase Midline-1; Finger on X and Y mouse homolog of; FXY; GBBB 1; GBBB1; MID 1; Mid1; Midin; Midline 1 (Opitz/BBB syndrome); Midline 1; Midline 1 ring finger; Midline 1 RING finger protein; Midline-1; Midline1; OGS 1; OGS1; OS; OSX; Putative transcription factor XPRF; RING finger protein 59; RING finger protein Midline-1; RNF 59; RNF59; TRI18; TRI18_HUMAN; TRIM 18; TRIM18; Tripartite motif containing protein 18; Tripartite motif protein TRIM18; Tripartite motif-containing protein 18; XPRF; zinc finger on X and Y, mouse, homolog of; Zinc finger X and Y; ZNFXY

Target Background

The protein encoded by this gene 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. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities.