InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MYO7A

Summary

InnateDB Protein

IDBP-294325.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MYO7A

Protein Name

myosin VIIA

Synonyms

DFNA11; DFNB2; MYOVIIA; MYU7A; NSRD2; USH1B;

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}.

Comments

Interactions

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
DNA-DNA	0
RNA-RNA	0
DNA-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

PDB ID

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