Entrez Summary: The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008].
UniProt Summary: Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing (PubMed:12032315). Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity). {ECO:0000250|UniProtKB:Q8K3H5, ECO:0000269|PubMed:12032315}.
Pfam DomainsGO Terms
Pfam Domains
Pkinase Tyr
Pkinase
Myosin head
GO Terms
plus-end directed microfilament motor activity
actin-dependent ATPase activity
stereocilium tip
filopodium tip
microfilament motor activity
cochlea morphogenesis
myosin complex
filamentous actin
ADP binding
cochlea development
filopodium
inner ear morphogenesis
ear morphogenesis
sensory perception of sound
sensory perception of mechanical stimulus
protein autophosphorylation
inner ear development
calmodulin binding
visual perception
ear development
sensory perception of light stimulus
protein kinase activity
sensory organ morphogenesis
actin binding
embryonic organ morphogenesis
protein serine/threonine kinase activity
embryonic organ development
sensory organ development
embryonic morphogenesis
animal organ morphogenesis
sensory perception
protein phosphorylation
embryo development
phosphorylation
nervous system process
ATP binding
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)