| Gene Symbol |
MYO7A
|
| Entrez Gene |
4647
|
| Alt Symbol |
DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
myosin VIIA
|
| Other Description |
myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))|unconventional myosin-VIIa
|
| Swissprots |
Q92822 Q92821 P78427 Q13402 Q14785 B9A011 F8VUN5 Q13321
|
| Accessions |
EAW75018 EAW75019 EAW75020 EAW75021 EAW75022 EAW75023 Q13402 AB209629 BAD92866 AB290181 BAG06735 BC023212 BC030215 BC144519 BC172349 AAI72349 BG108466 L29146 AAA20909 U34227 AAC50218 U39226 AAB03679 U55208 AAC50927 U55209 AAC50722 XM_005274012 XP_005274069 XM_006718558 XP_006718621 XM_006718559 XP_006718622 XM_006718560 XP_006718623 XM_006718561 XP_006718624 XM_011545044 XP_011543346 XM_011545045 XP_011543347 XM_011545046 XP_011543348 XM_011545047 XP_011543349 XM_011545048 XP_011543350 XM_011545049 XP_011543351 XM_011545050 XP_011543352 XM_011545051 XP_011543353 XM_011545052 XP_011543354 XR_949938 XR_949941 XR_949942 XR_949943 NM_000260 NP_000251 NM_001127179 NP_001120651 NM_001127180 NP_001120652
|
| 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:0000269|PubMed:19643958, ECO:0000269|PubMed:214936
|
| Subcellular Location |
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.
|
| 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:0000269|PubMed:19643958, ECO:0000269|PubMed:21493626, ECO:0000269|PubMed:21709241}.
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