MYO5A Gene Summary [Human]
This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1) and neuroectodermal melanolysosomal disease, or Elejalde disease. [provided by RefSeq, Sep 2023]
Details
| Type | Protein Coding |
| Official Symbol | MYO5A |
| Official Name | myosin VA [Source:HGNC Symbol;Acc:HGNC:7602] |
| Ensembl ID | ENSG00000197535 |
| Bio databases IDs | |
| Aliases | myosin VA, myosin, heavy polypeptide kinase, myosin heavy chain 12, myoxin, myosin V, Unconventional myosin-Va |
| Synonyms | 9630007J19RIK, d-120J, Dbv, Dop, flail, flr, GS1, hcBM-V, MVa, MYH12, MYO5, Myosin v, MYOSIN VA, MYOSIN VA exon containing, MyoVA, MYR12, Sev-1 |
| 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 MYO5A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- SNARE binding
- Autophagy protein 16 (ATG16)
- IQ (isoleucine-glutamine) motif containing G and D (IQCG and IQCD)
- globular domain
- Synaptonemal complex protein 1 (SCP-1)
- ATP binding
- microfilament motor protein
- helix-rich Mycoplasma protein
- coiled-coil domain
- enzyme
- motor domain
- identical protein binding
- ATPase
- globular tail domain
- Tropomyosin
- Calmodulin-binding motif
- actin binding
- syntaxin-1 binding
- IQ domain
- ATP-dependent protein binding
- tail domain
- cargo binding domain
- HOOK protein coiled-coil region
- DIL domain
- Mitotic checkpoint protein
- calcium-dependent protein binding
- TPR/MLP1/MLP2-like protein
- protein kinase binding
- calmodulin binding
- Myosin and Kinesin motor domain
- enzyme binding
- calcium ion binding
- Cargo binding domain of myosin 5 and similar proteins
- protein domain specific binding
- protein binding
- Calcium binding and coiled-coil domain (CALCOCO1) like
- IQ calmodulin-binding motif
- Myosin head (motor domain)
- binding protein
- Rab binding domain
- motor protein
- Myosin
Pathways
Biological processes and signaling networks where the MYO5A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- Huntington disease
- Griscelli syndrome type 1
- ataxia
- Griscelli syndrome
- Griscelli syndrome type 3
role in cell
- quantity
- differentiation
- accumulation in
- number
- organization
- movement
- transport
- length
- translocation
- myelination
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
- dendrite tip
- glutaminergic synapse
- ruffle
- cytoskeleton
- perinuclear region
- postsynaptic region
- cellular membrane
- actin cytoskeleton
- Nucleus
- Plasma Membrane
- vesicles
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- microtubules
- intermediate filaments
- actin filaments
- cytosol
- neurofilaments
- synaptic vesicles
- growth cone
- neurites
- synaptosomes
- synapse
- photoreceptor outer segments
- recycling endosomes
- early endosomes
- late endosomes
- melanosomes
- smooth endoplasmatic reticulum
- peroxisomes
- plus end of microtubule
- secretory granules
- membrane processes
- filopodia
- perikaryon
- axons
- dendrites
- dendritic shafts
- dendritic branches
- melanosomal membrane
- lamellipodia
- vesicle fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYO5A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular response to insulin stimulus
- vesicle-mediated transport
- vesicle transport along actin filament
- protein transport
- actin filament organization
- post-Golgi vesicle-mediated transport
- actin filament-based movement
- protein localization in plasma membrane
- melanosome transport
Cellular Component
Where in the cell the gene product is active
- myosin complex
- insulin-responsive compartment
- late endosome
- endoplasmic reticulum
- actin filament
- neuron projection
- lysosome
- growth cone
- peroxisome
- early endosome
- extracellular vesicular exosome
- melanosome
- cytoplasm
- membrane
- ruffle
- actin cytoskeleton
- filopodium tip
- vesicle
- cytosol
- recycling endosome
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- ATP binding
- calmodulin binding
- RNA binding
- protein binding
- small GTPase binding
- microfilament motor activity