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MYO7A
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants.
Protein class
Disease related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Cone photoreceptor cells, Cytotrophoblasts, Rod photoreceptor cells, Hofbauer cells, Kupffer cells)
Immune cell specificity
Immune cell enhanced (classical monocyte, intermediate monocyte)
Cell line specificity
Cell line enhanced (BEWO, CACO-2, RH-30, RPMI-8226, SK-BR-3, U-937)
Interaction
Might homodimerize in a two headed molecule through the formation of a coiled-coil rod (By similarity). Identified in a complex with USH1C and USH1G (PubMed:21709241). Interacts with MYRIP (PubMed:11964381). Interacts with RPE65 (PubMed:21493626). Interacts with CIB2 (PubMed:23023331). May interact with CALM (PubMed:15300860). Interacts with WHRN (By similarity). Interacts with PLEKHB1 (via PH domain) (By similarity). Interacts with PCDH15 (By similarity). Interacts with TWF2 (By similarity). Interacts with USH1G (By similarity). Interacts with MYH9 (By similarity). Interacts (via MyTH4-FERM domains) with cytoplasmic regions of ADGRV1 and USH2A. Interacts with PDZD7 (via MyTH4-FERM domains) (By similarity).
Molecular function
Actin-binding, Calmodulin-binding, Motor protein, Myosin
More Types Infomation
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- Derivation: Phage display library screening
- Species Reactivity: Mouse, Rat, Human
- Type: IgG
- Application: WB, ICC/IF, FC
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For Research Use Only. Not For Clinical Use.