Aliases for MIB1 Gene
External Ids for MIB1 Gene
Previous GeneCards Identifiers for MIB1 Gene
This gene encodes a protein containing multiple ankyrin repeats and RING finger domains that functions as an E3 ubiquitin ligase. The encoded protein positively regulates Notch signaling by ubiquitinating the Notch receptors, thereby facilitating their endocytosis. This protein may also promote the ubiquitination and degradation of death-associated protein kinase 1 (DAPK1). [provided by RefSeq, Jun 2013]
GeneCards Summary for MIB1 Gene
MIB1 (Mindbomb E3 Ubiquitin Protein Ligase 1) is a Protein Coding gene. Diseases associated with MIB1 include Left Ventricular Noncompaction 7 and Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema. Among its related pathways are Signaling by NOTCH1 and NOTCH2 Activation and Transmission of Signal to the Nucleus. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is ANKDD1A.
UniProtKB/Swiss-Prot for MIB1 Gene
E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors. Probably mediates ubiquitination and subsequent proteasomal degradation of DAPK1, thereby antagonizing anti-apoptotic effects of DAPK1 to promote TNF-induced apoptosis (By similarity). Involved in ubiquitination of centriolar satellite CEP131, CEP290 and PCM1 proteins and hence inhibits primary cilium formation in proliferating cells. Mediates Lys-63-linked polyubiquitination of TBK1, which probably participates in kinase activation.