RBCC Red Blood Cell Collection

MIB1_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: MIB1 , DIP1, KIAA1323, ZZANK2
Protein names and data: MIB1_HUMAN , E3 ubiquitin-protein ligase MIB1; 6.3.2.- , DAPK-interacting protein 1; DIP-1; Mind bomb homolog 1; Zinc finger ZZ type with ankyrin repeat domain protein 2 Lenght: 1006 a.a.
Mass: 110136 Da
fasta formatted sequence
Function: 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). Mediates 'Lys-63'-linked polyubiquitination of TBK1, which probably participates in kinase activation.
Pathway: Protein modification; protein ubiquitination.
Disease: ( OMIM: 608677 615092 ) Left ventricular non-compaction 7 (LVNC7) [MIM:615092]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm. Cell membrane (By similarity). Note=Localizes to the plasma membrane (By similarity). According to PubMed:15048887, it is mitochondrial, however such localization remains unclear.
Tissue specificity: Widely expressed at low level. Expressed at higher level in spinal cord, ovary, whole brain, and all specific brain regions examined.

Genetic variants

174 - 174 R -> H (found in a patient with severe mental retardation, psychomotor delay, no speech, sleep disturbances, feeding problems, abnormal breething, deep-set eyes and short philtrum). VAR_069385
943 - 943 V -> F (in LVNC7). VAR_069620

Database cross-references

UniProt: Q86YT6
Ensembl: ENST00000261537
MIM: 608677
MIM: 615092
neXtProt: NX_Q86YT6
Antibodypedia: Q86YT6 (may not find the protein thus also not any antibody)
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