Homo sapiens Protein: MYO7A
InnateDB Protein IDBP-294325.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYO7A
Protein Name myosin VIIA
Species Homo sapiens
Ensembl Protein ENSP00000386331
InnateDB Gene IDBG-65343 (MYO7A)
Protein Structure
UniProt Annotation
Function Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. {ECO:0000250, ECO:0000269PubMed:19643958, ECO:0000269PubMed:21493626, ECO:0000269PubMed:21687988, ECO:0000269PubMed:21709241}.
Subcellular Localization Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Note=In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region. Colocalizes with a subset of melanosomes in retinal pigment epithelium cells. Detected at the tip of cochlear hair cell stereocilia. The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin.
Disease Associations Usher syndrome 1B (USH1B) [MIM:276900]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269PubMed:10094549, ECO:0000269PubMed:10364543, ECO:0000269PubMed:10447383, ECO:0000269PubMed:10930322, ECO:0000269PubMed:12112664, ECO:0000269PubMed:15660226, ECO:0000269PubMed:16679490, ECO:0000269PubMed:7870171, ECO:0000269PubMed:8900236, ECO:0000269PubMed:9002678, ECO:0000269PubMed:9382091, ECO:0000269PubMed:9718356}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 2 (DFNB2) [MIM:600060]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:9171832, ECO:0000269PubMed:9171833}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal dominant, 11 (DFNA11) [MIM:601317]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA11 is characterized by onset after complete speech acquisition and subsequent gradual progression. {ECO:0000269PubMed:15121790, ECO:0000269PubMed:15221449, ECO:0000269PubMed:15300860, ECO:0000269PubMed:9354784}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in MYO7A may be a cause of Leber congenital amaurosis (LCA), a severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near- absent pupillary responses, photophobia, high hyperopia and keratoconus.
Tissue Specificity Expressed in the pigment epithelium and the photoreceptor cells of the retina. Also found in kidney, liver, testis, cochlea, lymphocytes. Not expressed in brain. {ECO:0000269PubMed:19643958, ECO:0000269PubMed:21493626, ECO:0000269PubMed:21709241}.
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000146 microfilament motor activity
GO:0003774 motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0019904 protein domain specific binding
GO:0030507 spectrin binding
GO:0030898 actin-dependent ATPase activity
GO:0032403 protein complex binding
GO:0042803 protein homodimerization activity
GO:0043531 ADP binding
GO:0046983 protein dimerization activity
GO:0051015 actin filament binding
Biological Process
GO:0001845 phagolysosome assembly
GO:0006200 ATP catabolic process
GO:0006886 intracellular protein transport
GO:0006909 phagocytosis
GO:0007040 lysosome organization
GO:0007600 sensory perception
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0008152 metabolic process
GO:0030030 cell projection organization
GO:0030048 actin filament-based movement
GO:0042462 eye photoreceptor cell development
GO:0042472 inner ear morphogenesis
GO:0042490 mechanoreceptor differentiation
GO:0042491 auditory receptor cell differentiation
GO:0048563 post-embryonic organ morphogenesis
GO:0048839 inner ear development
GO:0050953 sensory perception of light stimulus
GO:0050957 equilibrioception
GO:0051875 pigment granule localization
GO:0051904 pigment granule transport
GO:0060088 auditory receptor cell stereocilium organization
GO:0060113 inner ear receptor cell differentiation
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005902 microvillus
GO:0005938 cell cortex
GO:0016324 apical plasma membrane
GO:0016459 myosin complex
GO:0031477 myosin VII complex
GO:0032391 photoreceptor connecting cilium
GO:0032420 stereocilium
GO:0042470 melanosome
GO:0045202 synapse
Protein Structure and Domains
InterPro IPR000048 IQ motif, EF-hand binding site
IPR000299 FERM domain
IPR000857 MyTH4 domain
IPR001452 SH3 domain
IPR001609 Myosin head, motor domain
IPR018979 FERM, N-terminal
IPR019748 FERM central domain
IPR019749 Band 4.1 domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
IPR029071 Ubiquitin-related domain
PFAM PF00612
Post-translational Modifications
SwissProt Q13402
PhosphoSite PhosphoSite-Q13402
UniProt Splice Variant
Entrez Gene 4647
UniGene Hs.609270
RefSeq NP_000251
OMIM 276903
HPRD 02043
EMBL AH006665 AP000752 AP001855 BF869194 L29146 U34227 U39226 U55208 U55209
GenPept AAA20909 AAB03679 AAC50218 AAC50722 AAC50927 AAC51150