IGBP1
Domain
The UIM domain is required for protective effect on PP2A.
Function
Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic subunits from degradative polyubiquitination until they associate with regulatory subunits.
Involvement in disease
Intellectual developmental disorder, X-linked, syndromic 28
MRXS28
An intellectual disability syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Intellectual disability is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated.
Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to destructive.
Sequence Similarities
Belongs to the IGBP1/TAP42 family.
Tissue Specificity
Ubiquitously expressed with highest levels in heart, skeletal muscle and pancreas.
Cellular localization
- Cytoplasm
Alternative names
IBP1, IGBP1, Immunoglobulin-binding protein 1, B-cell signal transduction molecule alpha 4, CD79a-binding protein 1, Protein phosphatase 2/4/6 regulatory subunit, Renal carcinoma antigen NY-REN-16, Protein alpha-4