MYO3A

Protein identityUniProt · HPA

UniProt accession

Q8NEV4

Gene

MYO3A

Ensembl

ENSG00000095777

Chromosome

10

Canonical length

1616 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Plasma membrane,Actin filaments,Cytoplasmic bodies

OverviewNCBI Gene

The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1616 residues, UniProt reviewed canonical sequence.

>Q8NEV4|MYO3A
     1  MFPLIGKTII FDNFPDPSDT WEITETIGKG TYGKVFKVLN KKNGQKAAVK ILDPIHDIDE
    61  EIEAEYNILK ALSDHPNVVR FYGIYFKKDK VNGDKLWLVL ELCSGGSVTD LVKGFLKRGE
   121  RMSEPLIAYI LHEALMGLQH LHNNKTIHRD VKGNNILLTT EGGVKLVDFG VSAQLTSTRH
   181  RRNTSVGTPF WMAPEVIACE QQLDTTYDAR CDTWSLGITA IELGDGDPPL ADLHPMRALF
   241  KIPRNPPPKL RQPELWSAEF NDFISKCLTK DYEKRPTVSE LLQHKFITQI EGKDVMLQKQ
   301  LTEFIGIHQC MGGTEKARRE RIHTKKGNFN RPLISNLKDV DDLATLEILD ENTVSEQLEK
   361  CYSRDQIYVY VGDILIALNP FQSLGLYSTK HSKLYIGSKR TASPPHIFAM ADLGYQSMIT
   421  YNSDQCIVIS GESGAGKTEN AHLLVQQLTV LGKANNRTLQ EKILQVNNLV EAFGNACTII
   481  NDNSSRFGKY LEMKFTSSGA VVGAQISEYL LEKSRVIHQA IGEKNFHIFY YIYAGLAEKK
   541  KLAHYKLPEN KPPRYLQNDH LRTVQDIMNN SFYKSQYELI EQCFKVIGFT MEQLGSIYSI
   601  LAAILNVGNI EFSSVATEHQ IDKSHISNHT ALENCASLLC IRADELQEAL TSHCVVTRGE
   661  TIIRPNTVEK ATDVRDAMAK TLYGRLFSWI VNCINSLLKH DSSPSGNGDE LSIGILDIFG
   721  FENFKKNSFE QLCINIANEQ IQYYYNQHVF AWEQNEYLNE DVDARVIEYE DNWPLLDMFL
   781  QKPMGLLSLL DEESRFPKAT DQTLVEKFEG NLKSQYFWRP KRMELSFGIH HYAGKVLYNA
   841  SGFLAKNRDT LPTDIVLLLR SSDNSVIRQL VNHPLTKTGN LPHSKTKNVI NYQMRTSEKL
   901  INLAKGDTGE ATRHARETTN MKTQTVASYF RYSLMDLLSK MVVGQPHFVR CIKPNSERQA
   961  RKYDKEKVLL QLRYTGILET ARIRRLGFSH RILFANFIKR YYLLCYKSSE EPRMSPDTCA
  1021  TILEKAGLDN WALGKTKVFL KYYHVEQLNL MRKEAIDKLI LIQACVRAFL CSRRYQKIQE
  1081  KRKESAIIIQ SAARGHLVRK QRKEIVDMKN TAVTTIQTSD QEFDYKKNFE NTRESFVKKQ
  1141  AENAISANER FISAPNNKGS VSVVKTSTFK PEEETTNAVE SNNRVYQTPK KMNNVYEEEV
  1201  KQEFYLVGPE VSPKQKSVKD LEENSNLRKV EKEEAMIQSY YQRYTEERNC EESKAAYLER
  1261  KAISERPSYP VPWLAENETS FKKTLEPTLS QRSIYQNANS MEKEKKTSVV TQRAPICSQE
  1321  EGRGRLRHET VKERQVEPVT QAQEEEDKAA VFIQSKYRGY KRRQQLRKDK MSSFKHQRIV
  1381  TTPTEVARNT HNLYSYPTKH EEINNIKKKD NKDSKATSER EACGLAIFSK QISKLSEEYF
  1441  ILQKKLNEMI LSQQLKSLYL GVSHHKPINR RVSSQQCLSG VCKGEEPKIL RPPRRPRKPK
  1501  TLNNPEDSTY YYLLHKSIQE EKRRPRKDSQ GKLLDLEDFY YKEFLPSRSG PKEHSPSLRE
  1561  RRPQQELQNQ CIKANERCWA AESPEKEEER EPAANPYDFR RLLRKTSQRR RLVQQS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYO3A 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)

0.39

Highest tissue expression

14 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYO3A.

Disease | AllUniProt

Conditions MYO3A is implicated in, by any mechanism.

• Deafness, autosomal recessive, 30 (DFNB30) MIM:607101
• Deafness, autosomal dominant, 90 (DFNA90) MIM:620722

Disease | GeneticClinVar

71 pathogenic / likely-pathogenic of 998 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 30
• Rare genetic deafness
• MYO3A-related disorder
• Nonsyndromic genetic hearing loss
• Hearing loss, autosomal dominant 90

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)

1.04

gnomAD pLI

0

gnomAD missense Z

-0.13

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cochlea morphogenesis
• positive regulation of filopodium assembly
• protein autophosphorylation
• regulation of actin filament length
• sensory perception of sound
• visual perception

Molecular functions

• actin binding
• ADP binding
• ATP binding
• ATP hydrolysis activity
• calmodulin binding
• microfilament motor activity
• plus-end directed microfilament motor activity
• protein kinase activity
• protein serine kinase activity
• protein serine/threonine kinase activity

Cellular components

• cytoplasm
• filamentous actin
• filopodium
• filopodium tip
• myosin complex
• photoreceptor inner segment
• stereocilium tip

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Protein kinase domain
• Myosin head, motor domain-like
• Protein kinase-like domain superfamily
• Protein kinase, ATP binding site
• P-loop containing nucleoside triphosphate hydrolase
• Class III myosin, motor domain
• Kinesin motor domain superfamily
• Myosin-III family with kinase activity
• Myosin head (motor domain)
• Protein kinase domain
• IQ calmodulin-binding motif

KeywordsUniProt

• Actin-binding
• ATP-binding
• Cell projection
• Cytoplasm
• Cytoskeleton
• Deafness
• Hearing
• Kinase
• Motor protein
• Myosin
• Non-syndromic deafness
• Nucleotide-binding
• Repeat
• Sensory transduction
• Serine/threonine-protein kinase
• Transferase
• Vision

InteractionsUniProt · HPA

Protein binding partners of MYO3A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MORN4
• ESPNL
• ESPN