MIB1 Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | MIB1 |
| Official Name | MIB E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:HGNC:21086] |
| Ensembl ID | ENSG00000101752 |
| Bio databases IDs | |
| Aliases | MIB E3 ubiquitin protein ligase 1, DAPK-interacting protein 1 |
| Synonyms | DIP-1, E430019M12Rik, LOC105376866, LVNC7, MIB, MIB E3 ubiquitin protein ligase 1, mindbomb, ZZANK2, ZZZ6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MIB1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ZZ
- Mib_herc2
- Ankyrin repeats (many copies)
- Mind bomb SH3 repeat domain
- Ankyrin repeats (3 copies)
- enzyme
- protein binding
- Ankyrin repeat
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Ring finger
- ubiquitin-protein transferase activity
- ankyrin repeats
- Zinc finger, C3HC4 type (RING finger)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dilated cardiomyopathy
- splenomegaly
- growth failure
- failure of heart looping
- left ventricular noncompaction type 7
- anemia
- granulocytosis
- edema
- chorioallantoic membrane fusion failure
role in cell
- cell death
- expression in
- apoptosis
- accumulation
- differentiation
- formation
- outgrowth
- cohesion
- morphology
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- pericentriolar matrix
- centriolar satellite
- Plasma Membrane
- centrosome
- centriole
- cytosol
- synaptic vesicles
- early endosomes
- cytoplasmic vesicles
- endocytotic vesicle
- postsynaptic density
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MIB1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron differentiation
- positive regulation of endocytosis
- negative regulation of neuron differentiation
- endocytosis
- ubiquitin-dependent protein catabolic process
- neural tube formation
- Notch signaling pathway
- blood vessel development
- somitogenesis
- in utero embryonic development
- heart looping
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- centrosome
- cytoplasm
- centriolar satellite
- cytosol
- cytoplasmic vesicle
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- zinc ion binding
- protein binding