MYO7A
entrez
4647
canonical
uniprot
Q13402
canonical
ensembl
ENSG00000137474
resolver
ensp
ENSP00000386331
resolver
ensp
ENSP00000386635
resolver
ensp
ENSP00000392185
resolver
ensp
ENSP00000499401
resolver
ensp
ENSP00000642949
resolver
genesymbol
MYO7A
resolver
genesymbol_syn
USH1B
resolver
hgnc
HGNC:7606
resolver
uniprot
B9A011
resolver
uniprot
F8VUN5
resolver
uniprot
P78427
resolver
uniprot
Q13321
resolver
uniprot
Q14785
resolver
uniprot
Q92821
resolver
uniprot
Q92822
resolver
uniprot_entry
MYO7A_HUMAN
resolver
uniprot_sec
B9A011
resolver
uniprot_sec
F8VUN5
resolver
uniprot_sec
P78427
resolver
uniprot_sec
Q13321
resolver
uniprot_sec
Q14785
resolver
uniprot_sec
Q92821
resolver
uniprot_sec
Q92822
resolver
activity_regulation
ACTIVITY REGULATION: ATP hydrolysis is inhibited by Mg(2+), already at a concentration of 0.4 mM. {ECO:0000269|PubMed:21687988}.
uniprot
proteins
amino_acid_sequence
MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDNEHWISPQNATHIKPMHPTSVHGVEDMIRLGDLNEAGILRNLLIRYRDHLIYTYTGSILVAVNPYQLLSIYSPEHIRQYTNKKIGEMPPHIFAIADNCYFNMKRNSRDQCCIISGESGAGKTESTKLILQFLAAISGQHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYIDIHFNKRGAIEGAKIEQYLLEKSRVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQASDYNYLAMGNCITCEGRVDSQEYANIRSAMKVLMFTDTENWEISKLLAAILHLGNLQYEARTFENLDACEVLFSPSLATAASLLEVNPPDLMSCLTSRTLITRGETVSTPLSREQALDVRDAFVKGIYGRLFVWIVDKINAAIYKPPSQDVKNSRRSIGLLDIFGFENFAVNSFEQLCINFANEHLQQFFVRHVFKLEQEEYDLESIDWLHIEFTDNQDALDMIANKPMNIISLIDEESKFPKGTDTTMLHKLNSQHKLNANYIPPKNNHETQFGINHFAGIVYYETQGFLEKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMGAETRKRSPTLSSQFKRSLELLMRTLGACQPFFVRCIKPNEFKKPMLFDRHLCVRQLRYSGMMETIRIRRAGYPIRYSFVEFVERYRVLLPGVKPAYKQGDLRGTCQRMAEAVLGTHDDWQIGKTKIFLKDHHDMLLEVERDKAITDRVILLQKVIRGFKDRSNFLKLKNAATLIQRHWRGHNCRKNYGLMRLGFLRLQALHRSRKLHQQYRLARQRIIQFQARCRAYLVRKAFRHRLWAVLTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQERLAQLAREDAERELKEKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQEGQAPSGFEDLERGRREMVEEDLDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRRPLKQPLLYHDDEGDQLAALAVWITILRFMGDLPEPKYHTAMSDGSEKIPVMTKIYETLGKKTYKRELQALQGEGEAQLPEGQKKSSVRHKLVHLTLKKKSKLTEEVTKRLHDGESTVQGNSMLEDRPTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYARGWILVSLCVGCFAPSEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIMLPVTFMDGTTKTLLTDSATTAKELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVMDAISQCEQYAKEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTYIPDREITPLKTLEKWAQLAIAAHKKGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYFVDEQEQVLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSCRGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVALQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREIVALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARGKDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIAVLKYMGDYPSKRTRSVNELTDQIFEGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPLAIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSVPENDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGALIYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAFLKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNWSSGNTYFHITIGNLVRGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRSGK
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:10094549, ECO:0000269|PubMed:10364543, ECO:0000269|PubMed:10447383, ECO:0000269|PubMed:10930322, ECO:0000269|PubMed:12112664, ECO:0000269|PubMed:15660226, ECO:0000269|PubMed:16679490, ECO:0000269|PubMed:23559863, ECO:0000269|PubMed:24831256, ECO:0000269|PubMed:25798947, ECO:0000269|PubMed:7870171, ECO:0000269|PubMed:8900236, ECO:0000269|PubMed:9002678, ECO:0000269|PubMed:9382091, ECO:0000269|PubMed:9718356}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:28281779, ECO:0000269|PubMed:9171832, ECO:0000269|PubMed:9171833}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:15121790, ECO:0000269|PubMed:15221449, ECO:0000269|PubMed:15300860, ECO:0000269|PubMed:9354784}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:21493626, ECO:0000269|PubMed:21687988, ECO:0000269|PubMed:21709241}.
uniprot
proteins
mass_dalton
254390
uniprot
proteins
protein_family
Myosin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
10094549
uniprot
proteins
pubmed
10364543
uniprot
proteins
pubmed
10447383
uniprot
proteins
pubmed
10737800
uniprot
proteins
pubmed
10930322
uniprot
proteins
pubmed
11964381
uniprot
proteins
pubmed
12112664
uniprot
proteins
pubmed
15121790
uniprot
proteins
pubmed
15221449
uniprot
proteins
pubmed
15300860
uniprot
proteins
pubmed
15660226
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
16679490
uniprot
proteins
pubmed
19643958
uniprot
proteins
pubmed
21493626
uniprot
proteins
pubmed
21687988
uniprot
proteins
pubmed
21709241
uniprot
proteins
pubmed
21901789
uniprot
proteins
pubmed
23023331
uniprot
proteins
pubmed
23559863
uniprot
proteins
pubmed
24831256
uniprot
proteins
pubmed
25122759
uniprot
proteins
pubmed
25798947
uniprot
proteins
pubmed
26720455
uniprot
proteins
pubmed
27331610
uniprot
proteins
pubmed
28281779
uniprot
proteins
pubmed
28887846
uniprot
proteins
pubmed
32209652
uniprot
proteins
pubmed
7568224
uniprot
proteins
pubmed
7870171
uniprot
proteins
pubmed
7972138
uniprot
proteins
pubmed
8022818
uniprot
proteins
pubmed
8622919
uniprot
proteins
pubmed
8842737
uniprot
proteins
pubmed
8884267
uniprot
proteins
pubmed
8900236
uniprot
proteins
pubmed
9002678
uniprot
proteins
pubmed
9070921
uniprot
proteins
pubmed
9171832
uniprot
proteins
pubmed
9171833
uniprot
proteins
pubmed
9354784
uniprot
proteins
pubmed
9382091
uniprot
proteins
pubmed
9718356
uniprot
proteins
sequence_length
2215
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P97479}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:P97479}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P97479}. Synapse {ECO:0000269|PubMed:8842737}. Note=In the photoreceptor cells, mainly localized in the inner and base of outer segments as well as in the synaptic ending region (PubMed:8842737). In retinal pigment epithelial cells colocalizes with a subset of melanosomes, displays predominant localization to stress fiber-like structures and some localization to cytoplasmic puncta (PubMed:19643958, PubMed:27331610). Detected at the tip of cochlear hair cell stereocilia (PubMed:21709241). The complex formed by MYO7A, USH1C and USH1G colocalizes with F-actin (PubMed:21709241). {ECO:0000269|PubMed:19643958, ECO:0000269|PubMed:21709241, ECO:0000269|PubMed:27331610, ECO:0000269|PubMed:8842737}.
uniprot
proteins