• Gene id: 4647

Gene Summary

• Gene Symbol: MYO7A   Gene   UCSC   Ensembl
• Aliases: DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B
• Gene name: myosin VIIA
• Alternate names: unconventional myosin-VIIa, myosin VIIA (Usher syndrome 1B (autosomal recessive, severe)),
• Gene location: 11q13.5 (77128191: 77215240)     Exons: 56     NC_000011.10
• Gene summary(Entrez): This gene is a member of the myosin gene family. 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. T
• OMIM: 606541

Protein Summary

• Protein general information: Q13402  
  • Name: Unconventional myosin VIIa
  • Length: 2215  
  • Mass: 254390
  • 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
• Sequence:

  MVILQQGDHVWMDLRLGQEFDVPIGAVVKLCDSGQVQVVDDEDNEHWISPQNATHIKPMHPTSVHGVEDMIRLGD
  LNEAGILRNLLIRYRDHLIYTYTGSILVAVNPYQLLSIYSPEHIRQYTNKKIGEMPPHIFAIADNCYFNMKRNSR
  DQCCIISGESGAGKTESTKLILQFLAAISGQHSWIEQQVLEATPILEAFGNAKTIRNDNSSRFGKYIDIHFNKRG
  AIEGAKIEQYLLEKSRVCRQALDERNYHVFYCMLEGMSEDQKKKLGLGQASDYNYLAMGNCITCEGRVDSQEYAN
  IRSAMKVLMFTDTENWEISKLLAAILHLGNLQYEARTFENLDACEVLFSPSLATAASLLEVNPPDLMSCLTSRTL
  ITRGETVSTPLSREQALDVRDAFVKGIYGRLFVWIVDKINAAIYKPPSQDVKNSRRSIGLLDIFGFENFAVNSFE
  QLCINFANEHLQQFFVRHVFKLEQEEYDLESIDWLHIEFTDNQDALDMIANKPMNIISLIDEESKFPKGTDTTML
  HKLNSQHKLNANYIPPKNNHETQFGINHFAGIVYYETQGFLEKNRDTLHGDIIQLVHSSRNKFIKQIFQADVAMG
  AETRKRSPTLSSQFKRSLELLMRTLGACQPFFVRCIKPNEFKKPMLFDRHLCVRQLRYSGMMETIRIRRAGYPIR
  YSFVEFVERYRVLLPGVKPAYKQGDLRGTCQRMAEAVLGTHDDWQIGKTKIFLKDHHDMLLEVERDKAITDRVIL
  LQKVIRGFKDRSNFLKLKNAATLIQRHWRGHNCRKNYGLMRLGFLRLQALHRSRKLHQQYRLARQRIIQFQARCR
  AYLVRKAFRHRLWAVLTVQAYARGMIARRLHQRLRAEYLWRLEAEKMRLAEEEKLRKEMSAKKAKEEAERKHQER
  LAQLAREDAERELKEKEAARRKKELLEQMERARHEPVNHSDMVDKMFGFLGTSGGLPGQEGQAPSGFEDLERGRR
  EMVEEDLDAALPLPDEDEEDLSEYKFAKFAATYFQGTTTHSYTRRPLKQPLLYHDDEGDQLAALAVWITILRFMG
  DLPEPKYHTAMSDGSEKIPVMTKIYETLGKKTYKRELQALQGEGEAQLPEGQKKSSVRHKLVHLTLKKKSKLTEE
  VTKRLHDGESTVQGNSMLEDRPTSNLEKLHFIIGNGILRPALRDEIYCQISKQLTHNPSKSSYARGWILVSLCVG
  CFAPSEKFVKYLRNFIHGGPPGYAPYCEERLRRTFVNGTRTQPPSWLELQATKSKKPIMLPVTFMDGTTKTLLTD
  SATTAKELCNALADKISLKDRFGFSLYIALFDKVSSLGSGSDHVMDAISQCEQYAKEQGAQERNAPWRLFFRKEV
  FTPWHSPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTYIPDREITPL
  KTLEKWAQLAIAAHKKGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYF
  VDEQEQVLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSCRGAKTTAPSFTLATI
  KGDEYTFTSSNAEDIRDLVVTFLEGLRKRSKYVVALQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWAN
  GINERTKQRGDFPTDSVYVMPTVTMPPREIVALVTMTPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPP
  PKHTLSRVMVSKARGKDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIAVLKYMGDYPSKRTRSVNELTDQIF
  EGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPLAIDCLQRLQ
  KALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIATRLLLKSSEGFSLFVKIA
  DKVLSVPENDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRG
  YHKCTREEVLQLGALIYRVKFEEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAF
  LKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKYGVSLIDPKTKDILTTHPFTKISNWSSGNTYFHITIGNLV
  RGSKLLCETSLGYKMDDLLTSYISQMLTAMSKQRGSRSGK

• Structural information:
  • Protein Domains: (65..74-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (745..76-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116-)
    (768..78-)
    (/note="IQ-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00116";-)
  • Interpro: IPR019749  IPR014352  IPR035963  IPR019748  IPR000299   IPR000048  IPR036961  IPR001609  IPR008989  IPR041793  IPR041794  IPR036106  IPR000857  IPR038185  IPR027417  IPR011993  IPR036028  IPR001452  IPR029071  
  • Prosite: PS50057 PS50096 PS51456 PS51016 PS50002
  • CDD: cd14473 cd13198 cd13199 cd01381
  • PDB: 5MV9
  • PDBsum: 5MV9
  • STRING: ENSP00000386331
• Other Databases: GeneCards:  MYO7A  Malacards:  MYO7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007605	sensory perception of sound	IMP	biological process
GO:0050953	sensory perception of light stimulus	IMP	biological process
GO:0050957	equilibrioception	IMP	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0030050	vesicle transport along actin filament	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0005902	microvillus	IBA	cellular component
GO:0000146	microfilament motor activity	IBA	molecular function
GO:0031982	vesicle	IBA	cellular component
GO:0030898	actin-dependent ATPase activity	IBA	molecular function
GO:0007605	sensory perception of sound	IBA	biological process
GO:0007423	sensory organ development	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0030048	actin filament-based movement	IDA	biological process
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0120044	stereocilium base	ISS	cellular component
GO:0042490	mechanoreceptor differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032420	stereocilium	ISS	cellular component
GO:0034613	cellular protein localization	ISS	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0030507	spectrin binding	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0007605	sensory perception of sound	IMP	biological process
GO:0120044	stereocilium base	IEA	cellular component
GO:0060122	inner ear receptor cell stereocilium organization	IEA	biological process
GO:0060113	inner ear receptor cell differentiation	IEA	biological process
GO:0060088	auditory receptor cell stereocilium organization	IEA	biological process
GO:0051875	pigment granule localization	IEA	biological process
GO:0042491	inner ear auditory receptor cell differentiation	IEA	biological process
GO:0042490	mechanoreceptor differentiation	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0007600	sensory perception	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0001845	phagolysosome assembly	IEA	biological process
GO:1990435	upper tip-link density	IEA	cellular component
GO:0030048	actin filament-based movement	IEA	biological process
GO:0005902	microvillus	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0051904	pigment granule transport	IEA	biological process
GO:0050953	sensory perception of light stimulus	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048563	post-embryonic animal organ morphogenesis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0034613	cellular protein localization	IEA	biological process
GO:0032420	stereocilium	IEA	cellular component
GO:0032391	photoreceptor connecting cilium	IEA	cellular component
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043531	ADP binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0031477	myosin VII complex	IEA	cellular component
GO:0030898	actin-dependent ATPase activity	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007040	lysosome organization	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0045202	synapse	IDA	cellular component
GO:0042462	eye photoreceptor cell development	IC	biological process
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0005516	calmodulin binding	IMP	molecular function
GO:0007601	visual perception	IMP	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Usher syndrome	KEGG:H00779
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Usher syndrome	KEGG:H00779
Usher syndrome	PMID:23991031
Usher syndrome	PMID:12112664
Usher syndrome	PMID:8900236
Usher syndrome	PMID:15592175
Sensorineural hearing loss	PMID:24194196
Leber congenital amaurosis	PMID:21901789
Congenital nystagmus	PMID:21901789
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq