MYO7A

MYO7A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3PVL
Identifiers
Aliases	MYO7A, DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B, myosin VIIA
External IDs	OMIM: 276903; MGI: 104510; HomoloGene: 219; GeneCards: MYO7A; OMA:MYO7A - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q13.5 Start 77,128,246 bp[1] End 77,215,241 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 E1|7 53.57 cM Start 97,700,267 bp[2] End 97,768,731 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland left adrenal cortex left testis right lobe of liver right testis anterior pituitary spleen paraflocculus of cerebellum frontal pole Top expressed in fourth ventricle choroid plexus of fourth ventricle Ileal epithelium stroma of bone marrow adrenal gland yolk sac retinal pigment epithelium choroidal fissure Epithelium of choroid plexus iris More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding spectrin binding protein homodimerization activity protein domain specific binding ADP binding calmodulin binding microfilament motor activity protein binding actin binding cytoskeletal motor activity ATP binding microtubule motor activity microtubule binding actin filament binding protein-containing complex binding protein N-terminus binding Cellular component cytosol photoreceptor inner segment melanosome photoreceptor outer segment stereocilium photoreceptor connecting cilium microvillus lysosomal membrane cell cortex apical plasma membrane myosin VII complex upper tip-link density cytoskeleton myosin complex synapse cytoplasm stereocilium base Biological process sensory perception inner ear receptor cell stereocilium organization pigment granule localization sensory perception of light stimulus post-embryonic animal organ morphogenesis hearing mechanoreceptor differentiation pigment granule transport auditory receptor cell stereocilium organization phagolysosome assembly inner ear auditory receptor cell differentiation cell projection organization equilibrioception inner ear morphogenesis eye photoreceptor cell development phagocytosis inner ear development inner ear receptor cell differentiation intracellular protein transport lysosome organization visual perception actin filament-based movement microtubule-based movement Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 4647 17921 Ensembl ENSG00000137474 ENSMUSG00000030761 UniProt Q13402 P97479 RefSeq (mRNA) NM_000260 NM_001127179 NM_001127180 NM_001369365 NM_001256081 NM_001256082 NM_001256083 NM_008663 RefSeq (protein) NP_000251 NP_001120652 NP_001356294 NP_001243010 NP_001243011 NP_001243012 NP_032689 Location (UCSC) Chr 11: 77.13 – 77.22 Mb Chr 7: 97.7 – 97.77 Mb PubMed search [3] [4]
Wikidata
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Myosin VIIA is protein that in humans is encoded by the MYO7A gene.^[5] Myosin VIIA is a member of the unconventional myosin superfamily of proteins.^[6] Myosins are actin binding molecular motors that use the enzymatic conversion of ATP - ADP + inorganic phosphate (Pi) to provide the energy for movement.

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. Myosin VIIA is an unconventional myosin with the longest tail (1360 aa). The tail is expected to dimerize, resulting in a two-headed molecule. Unconventional myosins have diverse functions in eukaryotic cells and are primarily thought to be involved in the movement or linkage of intra-cellular membranes and organelles to the actin cytoskeleton via interactions mediated by their highly divergent tail domains.

MYO7A is expressed in a number of mammalian tissues, including testis, kidney, lung, inner ear, retina and the ciliated epithelium of the nasal mucosa.

Clinical significance

Mutations in the MYO7A gene cause the Usher syndrome type 1B, a combined deafness/blindness disorder.^[6] Affected individuals are typically profoundly deaf at birth and then undergo progressive retinal degeneration.^[7]

Model organisms

Model organisms have been used in the study of MYO7A function. A spontaneous mutant mouse line, called Myo7a^sh1-6J[19] was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[17][20] Twenty three tests were carried out on mutant mice and ten significant abnormalities were observed.^[17] Male homozygous mutant mice displayed a decreased body weight, a decrease in body fat, improved glucose tolerance and abnormal pelvic girdle bone morphology. Homozygous mutant mice of both sex displayed various abnormalities in a modified SHIRPA test, including abnormal gait, tail dragging and an absence of pinna reflex, a decrease in grip strength, an increased thermal pain threshold, severe hearing impairment and a number of abnormal indirect calorimetry and clinical chemistry parameters.^[17]

References

External links

• GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
• Overview of all the structural information available in the PDB for UniProt: Q13402 (Human Unconventional myosin-VIIa) at the PDBe-KB.
• Overview of all the structural information available in the PDB for UniProt: P97479 (Mouse Unconventional myosin-VIIa) at the PDBe-KB.

Further reading