MYO9A Gene Summary [Human]
This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. They function as actin-based molecular motors. Mutations in this gene have been associated with Bardet-Biedl Syndrome. [provided by RefSeq, Dec 2011]
Details
| Type | Protein Coding |
| Official Symbol | MYO9A |
| Official Name | myosin IXA [Source:HGNC Symbol;Acc:HGNC:7608] |
| Ensembl ID | ENSG00000066933 |
| Bio databases IDs | |
| Aliases | myosin IXA |
| Synonyms | 4732465J09RIK, C130068I12RIK, C230003M11, CMS24, myosin IXA, myr 7 |
| 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 MYO9A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RhoGAP domain
- IQ (isoleucine-glutamine) motif containing G and D (IQCG and IQCD)
- Myosin and Kinesin motor domain
- GTPase activator
- enzyme
- protein binding
- GTPase-activator protein for Rho-like GTPases
- RhoGAP
- IQ calmodulin-binding motif
- Myosin head (motor domain)
- Calmodulin-binding motif
- Ubl1_cv_Nsp3_N-like
- protein kinase C conserved region 1 (C1 domain) superfamily
- Myosin
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- presynaptic congenital myasthenic syndrome type 24
- growth failure
- gout
- obstructive hydrocephalus
- systemic lupus erythematosus
- tumorigenesis
- arthrogryposis
- aortic valve calcification
- gait disturbance
regulates
role in cell
- migration
- formation
- scattering
- cell-cell adhesion
- assembly
- invasion by
- formation in
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
- axon component
- postsynaptic region
- cytosol
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MYO9A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of small GTPase mediated signal transduction
- establishment of epithelial cell apical/basal polarity
- visual perception
- cell junction assembly
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- axonal growth cone
- membrane
- unconventional myosin complex
- cytosol
- synapse
- actin filament
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- ATP binding
- protein binding
- metal ion binding
- GTPase activator activity
- microfilament motor activity