MYO7A

Protein identityUniProt · HPA

UniProt accession

Q13402

Gene

MYO7A

Ensembl

ENSG00000137474

Chromosome

11

Canonical length

2215 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Quaternary structure

Homodimer

OverviewNCBI Gene

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. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

2215 residues, UniProt reviewed canonical sequence.

>Q13402|MYO7A
     1  MVILQQGDHV WMDLRLGQEF DVPIGAVVKL CDSGQVQVVD DEDNEHWISP QNATHIKPMH
    61  PTSVHGVEDM IRLGDLNEAG ILRNLLIRYR DHLIYTYTGS ILVAVNPYQL LSIYSPEHIR
   121  QYTNKKIGEM PPHIFAIADN CYFNMKRNSR DQCCIISGES GAGKTESTKL ILQFLAAISG
   181  QHSWIEQQVL EATPILEAFG NAKTIRNDNS SRFGKYIDIH FNKRGAIEGA KIEQYLLEKS
   241  RVCRQALDER NYHVFYCMLE GMSEDQKKKL GLGQASDYNY LAMGNCITCE GRVDSQEYAN
   301  IRSAMKVLMF TDTENWEISK LLAAILHLGN LQYEARTFEN LDACEVLFSP SLATAASLLE
   361  VNPPDLMSCL TSRTLITRGE TVSTPLSREQ ALDVRDAFVK GIYGRLFVWI VDKINAAIYK
   421  PPSQDVKNSR RSIGLLDIFG FENFAVNSFE QLCINFANEH LQQFFVRHVF KLEQEEYDLE
   481  SIDWLHIEFT DNQDALDMIA NKPMNIISLI DEESKFPKGT DTTMLHKLNS QHKLNANYIP
   541  PKNNHETQFG INHFAGIVYY ETQGFLEKNR DTLHGDIIQL VHSSRNKFIK QIFQADVAMG
   601  AETRKRSPTL SSQFKRSLEL LMRTLGACQP FFVRCIKPNE FKKPMLFDRH LCVRQLRYSG
   661  MMETIRIRRA GYPIRYSFVE FVERYRVLLP GVKPAYKQGD LRGTCQRMAE AVLGTHDDWQ
   721  IGKTKIFLKD HHDMLLEVER DKAITDRVIL LQKVIRGFKD RSNFLKLKNA ATLIQRHWRG
   781  HNCRKNYGLM RLGFLRLQAL HRSRKLHQQY RLARQRIIQF QARCRAYLVR KAFRHRLWAV
   841  LTVQAYARGM IARRLHQRLR AEYLWRLEAE KMRLAEEEKL RKEMSAKKAK EEAERKHQER
   901  LAQLAREDAE RELKEKEAAR RKKELLEQME RARHEPVNHS DMVDKMFGFL GTSGGLPGQE
   961  GQAPSGFEDL ERGRREMVEE DLDAALPLPD EDEEDLSEYK FAKFAATYFQ GTTTHSYTRR
  1021  PLKQPLLYHD DEGDQLAALA VWITILRFMG DLPEPKYHTA MSDGSEKIPV MTKIYETLGK
  1081  KTYKRELQAL QGEGEAQLPE GQKKSSVRHK LVHLTLKKKS KLTEEVTKRL HDGESTVQGN
  1141  SMLEDRPTSN LEKLHFIIGN GILRPALRDE IYCQISKQLT HNPSKSSYAR GWILVSLCVG
  1201  CFAPSEKFVK YLRNFIHGGP PGYAPYCEER LRRTFVNGTR TQPPSWLELQ ATKSKKPIML
  1261  PVTFMDGTTK TLLTDSATTA KELCNALADK ISLKDRFGFS LYIALFDKVS SLGSGSDHVM
  1321  DAISQCEQYA KEQGAQERNA PWRLFFRKEV FTPWHSPSED NVATNLIYQQ VVRGVKFGEY
  1381  RCEKEDDLAE LASQQYFVDY GSEMILERLL NLVPTYIPDR EITPLKTLEK WAQLAIAAHK
  1441  KGIYAQRRTD AQKVKEDVVS YARFKWPLLF SRFYEAYKFS GPSLPKNDVI VAVNWTGVYF
  1501  VDEQEQVLLE LSFPEIMAVS SSRECRVWLS LGCSDLGCAA PHSGWAGLTP AGPCSPCWSC
  1561  RGAKTTAPSF TLATIKGDEY TFTSSNAEDI RDLVVTFLEG LRKRSKYVVA LQDNPNPAGE
  1621  ESGFLSFAKG DLIILDHDTG EQVMNSGWAN GINERTKQRG DFPTDSVYVM PTVTMPPREI
  1681  VALVTMTPDQ RQDVVRLLQL RTAEPEVRAK PYTLEEFSYD YFRPPPKHTL SRVMVSKARG
  1741  KDRLWSHTRE PLKQALLKKL LGSEELSQEA CLAFIAVLKY MGDYPSKRTR SVNELTDQIF
  1801  EGPLKAEPLK DEAYVQILKQ LTDNHIRYSE ERGWELLWLC TGLFPPSNIL LPHVQRFLQS
  1861  RKHCPLAIDC LQRLQKALRN GSRKYPPHLV EVEAIQHKTT QIFHKVYFPD DTDEAFEVES
  1921  STKAKDFCQN IATRLLLKSS EGFSLFVKIA DKVLSVPEND FFFDFVRHLT DWIKKARPIK
  1981  DGIVPSLTYQ VFFMKKLWTT TVPGKDPMAD SIFHYYQELP KYLRGYHKCT REEVLQLGAL
  2041  IYRVKFEEDK SYFPSIPKLL RELVPQDLIR QVSPDDWKRS IVAYFNKHAG KSKEEAKLAF
  2101  LKLIFKWPTF GSAFFEVKQT TEPNFPEILL IAINKYGVSL IDPKTKDILT THPFTKISNW
  2161  SSGNTYFHIT IGNLVRGSKL LCETSLGYKM DDLLTSYISQ MLTAMSKQRG SRSGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYO7A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.29

Highest tissue expression

37 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYO7A.

Disease | AllUniProt

Conditions MYO7A is implicated in, by any mechanism.

• Usher syndrome 1B (USH1B) MIM:276900
• Deafness, autosomal recessive, 2 (DFNB2) MIM:600060
• Deafness, autosomal dominant, 11 (DFNA11) MIM:601317

Disease | GeneticClinVar

905 pathogenic / likely-pathogenic of 5,037 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Usher syndrome type 1
• Autosomal recessive nonsyndromic hearing loss 2
• Usher syndrome type 1B
• Autosomal dominant nonsyndromic hearing loss 11
• Rare genetic deafness

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.85

gnomAD pLI

0

gnomAD missense Z

1.07

DepMap mean gene effect

-0.09

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• actin filament organization
• actin filament-based movement
• auditory receptor cell stereocilium organization
• cochlea development
• endocytosis
• equilibrioception
• eye photoreceptor cell development
• intracellular protein localization
• intracellular protein transport
• lysosome organization
• mechanoreceptor differentiation
• phagolysosome assembly
• sensory organ development
• sensory perception of light stimulus
• sensory perception of sound
• visual perception
• pigment granule transport

Molecular functions

• actin filament binding
• ADP binding
• ATP binding
• calmodulin binding
• identical protein binding
• microfilament motor activity
• protein domain specific binding
• spectrin binding

Cellular components

• actin cytoskeleton
• apical plasma membrane
• cell cortex
• cytoplasm
• cytosol
• lysosomal membrane
• melanosome
• membrane
• microvillus
• photoreceptor connecting cilium
• photoreceptor inner segment
• photoreceptor outer segment
• stereocilium
• stereocilium base
• synapse
• myosin VII complex
• upper tip-link density

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• FERM domain
• MyTH4 domain
• SH3 domain
• Myosin head, motor domain-like
• IRS-type PTB domain
• PH-like domain superfamily
• FERM/acyl-CoA-binding protein superfamily
• FERM central domain
• Band 4.1 domain
• P-loop containing nucleoside triphosphate hydrolase
• Ubiquitin-like domain superfamily
• FERM superfamily, second domain
• SH3-like domain superfamily
• Class VII myosin, motor domain
• Kinesin motor domain superfamily
• MyTH4 domain superfamily
• Myosin VII, FERM domain C-lobe, repeat 1
• Myosin VII, FERM domain C-lobe, repeat 2
• Unconventional Myosin ATPase
• Myosin VII, N-terminal domain
• Myosin head (motor domain)
• IQ calmodulin-binding motif
• MyTH4 domain
• PTB domain (IRS-1 type)
• RA like domain
• Myosin-X FERM PH domain-like
• Myosin VII N-terminal beta barrel domain

KeywordsUniProt

• Actin-binding
• ATP-binding
• Calmodulin-binding
• Cytoplasm
• Cytoskeleton
• Deafness
• Hearing
• Leber congenital amaurosis
• Motor protein
• Myosin
• Non-syndromic deafness
• Nucleotide-binding
• Phosphoprotein
• Repeat
• Retinitis pigmentosa
• SH3 domain
• Synapse
• Usher syndrome

InteractionsUniProt · HPA

Protein binding partners of MYO7A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CALML4
• CIB2
• MYH9
• MYRIP
• PCDH15
• PDZD7
• PLEKHB1
• RPE65
• TWF2
• USH1G
• WHRN