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MID1

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. Multiple different transcript variants are generated by alternate splicing; however, the full-length nature of some of the variants has not been determined. [provided by RefSeq, Jul 2010]
Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Astrocytes, Basal squamous epithelial cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (A549, AF22)

Interaction

Homodimer or heterodimer with MID2. Interacts with IGBP1. Interacts with TRIM16.

Molecular function

Transferase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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