MYO5B Gene Summary [Human]
The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | MYO5B |
| Official Name | myosin VB [Source:HGNC Symbol;Acc:HGNC:7603] |
| Ensembl ID | ENSG00000167306 |
| Bio databases IDs | |
| Aliases | myosin VB |
| Synonyms | DIAR2, LOC269036, mKIAA1119, MVID1, Myosin 5b, Myosin VB, Myr6, PFIC10 |
| 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 MYO5B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rabaptin-like protein
- Protein of Unknown function (DUF1690)
- Myosin and Kinesin motor domain
- enzyme binding
- microfilament motor protein
- helix-rich Mycoplasma protein
- Cargo binding domain of myosin 5 and similar proteins
- enzyme
- protein binding
- ionotropic glutamate receptor binding
- ATPase
- Myosin head (motor domain)
- actin filament binding
- Calmodulin-binding motif
- tail domain
- Myosin
- cargo binding domain
- DIL domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- progressive familial intrahepatic cholestasis-10
- congenital microvillous atrophy
- diarrhea type 2 with microvillus atrophy and cholestasis
- multiple sclerosis
- refractive error
- myopia
- Crohn disease
- resistant hypertension
role in cell
- loss
- number
- expression in
- accumulation
- accumulation in
- attachment
- appearance
- formation
- chemotaxis
- transport
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
- cytoplasmic vesicle membrane
- cytoskeleton
- somatodendritic region
- perinuclear region
- postsynaptic region
- actin cytoskeleton
- vesicles
- endosomal membrane
- dendritic spines
- synapse
- apical cortex
- recycling endosomes
- brush border
- perikaryon
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYO5B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- renal water homeostasis
- vesicle-mediated transport
- vesicle transport along actin filament
- protein transport
- endosomal transport
- actin filament organization
Cellular Component
Where in the cell the gene product is active
- myosin complex
- cytoplasmic vesicle membrane
- extracellular vesicular exosome
- cytoplasm
- membrane
- actin cytoskeleton
- vesicle
- macromolecular complex
- recycling endosome
- apical cortex
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- ATP binding
- calmodulin binding
- protein binding
- small GTPase binding
- microfilament motor activity