• Gene id: 53904

Gene Summary

• Gene Symbol: MYO3A   Gene   UCSC   Ensembl
• Aliases: DFNB30
• Gene name: myosin IIIA
• Alternate names: myosin-IIIa, epididymis secretory sperm binding protein,
• Gene location: 10p12.1 (25934228: 26212535)     Exons: 43     NC_000010.11
• Gene summary(Entrez): 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-ter
• OMIM: 606973

Protein Summary

• Protein general information: Q8NEV4  
  • Name: Myosin IIIa (EC 2.7.11.1)
  • Length: 1616  
  • Mass: 186208
  • Tissue specificity: Strongest expression in retina, retinal pigment epithelial cells, cochlea and pancreas.
• Sequence:

  MFPLIGKTIIFDNFPDPSDTWEITETIGKGTYGKVFKVLNKKNGQKAAVKILDPIHDIDEEIEAEYNILKALSDH
  PNVVRFYGIYFKKDKVNGDKLWLVLELCSGGSVTDLVKGFLKRGERMSEPLIAYILHEALMGLQHLHNNKTIHRD
  VKGNNILLTTEGGVKLVDFGVSAQLTSTRHRRNTSVGTPFWMAPEVIACEQQLDTTYDARCDTWSLGITAIELGD
  GDPPLADLHPMRALFKIPRNPPPKLRQPELWSAEFNDFISKCLTKDYEKRPTVSELLQHKFITQIEGKDVMLQKQ
  LTEFIGIHQCMGGTEKARRERIHTKKGNFNRPLISNLKDVDDLATLEILDENTVSEQLEKCYSRDQIYVYVGDIL
  IALNPFQSLGLYSTKHSKLYIGSKRTASPPHIFAMADLGYQSMITYNSDQCIVISGESGAGKTENAHLLVQQLTV
  LGKANNRTLQEKILQVNNLVEAFGNACTIINDNSSRFGKYLEMKFTSSGAVVGAQISEYLLEKSRVIHQAIGEKN
  FHIFYYIYAGLAEKKKLAHYKLPENKPPRYLQNDHLRTVQDIMNNSFYKSQYELIEQCFKVIGFTMEQLGSIYSI
  LAAILNVGNIEFSSVATEHQIDKSHISNHTALENCASLLCIRADELQEALTSHCVVTRGETIIRPNTVEKATDVR
  DAMAKTLYGRLFSWIVNCINSLLKHDSSPSGNGDELSIGILDIFGFENFKKNSFEQLCINIANEQIQYYYNQHVF
  AWEQNEYLNEDVDARVIEYEDNWPLLDMFLQKPMGLLSLLDEESRFPKATDQTLVEKFEGNLKSQYFWRPKRMEL
  SFGIHHYAGKVLYNASGFLAKNRDTLPTDIVLLLRSSDNSVIRQLVNHPLTKTGNLPHSKTKNVINYQMRTSEKL
  INLAKGDTGEATRHARETTNMKTQTVASYFRYSLMDLLSKMVVGQPHFVRCIKPNSERQARKYDKEKVLLQLRYT
  GILETARIRRLGFSHRILFANFIKRYYLLCYKSSEEPRMSPDTCATILEKAGLDNWALGKTKVFLKYYHVEQLNL
  MRKEAIDKLILIQACVRAFLCSRRYQKIQEKRKESAIIIQSAARGHLVRKQRKEIVDMKNTAVTTIQTSDQEFDY
  KKNFENTRESFVKKQAENAISANERFISAPNNKGSVSVVKTSTFKPEEETTNAVESNNRVYQTPKKMNNVYEEEV
  KQEFYLVGPEVSPKQKSVKDLEENSNLRKVEKEEAMIQSYYQRYTEERNCEESKAAYLERKAISERPSYPVPWLA
  ENETSFKKTLEPTLSQRSIYQNANSMEKEKKTSVVTQRAPICSQEEGRGRLRHETVKERQVEPVTQAQEEEDKAA
  VFIQSKYRGYKRRQQLRKDKMSSFKHQRIVTTPTEVARNTHNLYSYPTKHEEINNIKKKDNKDSKATSEREACGL
  AIFSKQISKLSEEYFILQKKLNEMILSQQLKSLYLGVSHHKPINRRVSSQQCLSGVCKGEEPKILRPPRRPRKPK
  TLNNPEDSTYYYLLHKSIQEEKRRPRKDSQGKLLDLEDFYYKEFLPSRSGPKEHSPSLRERRPQQELQNQCIKAN
  ERCWAAESPEKEEEREPAANPYDFRRLLRKTSQRRRLVQQS

• Structural information:
  • Protein Domains: (21..28-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (338..105-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (1055..108-)
    (/note="IQ-1)
    (/evidence="ECO:0000255|PROSITE-ProRu-)
  • Interpro: IPR000048  IPR011009  IPR001609  IPR036083  IPR027417   IPR000719  IPR017441  
  • Prosite: PS50096 PS51456 PS00107 PS50011
  • CDD: cd01379
  • PDB: 6JLE
  • PDBsum: 6JLE
  • STRING: ENSP00000265944
• Other Databases: GeneCards:  MYO3A  Malacards:  MYO3A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032433	filopodium tip	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032426	stereocilium tip	ISS	cellular component
GO:0090103	cochlea morphogenesis	ISS	biological process
GO:0007605	sensory perception of sound	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016459	myosin complex	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0032433	filopodium tip	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0060002	plus-end directed microfilament motor activity	IDA	molecular function
GO:0030898	actin-dependent ATPase activity	IDA	molecular function
GO:0004672	protein kinase activity	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0031941	filamentous actin	IDA	cellular component
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0030175	filopodium	IDA	cellular component
GO:0005516	calmodulin binding	IDA	molecular function
GO:0000146	microfilament motor activity	IMP	molecular function
GO:0007605	sensory perception of sound	IMP	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881