• Gene id: 4646

Gene Summary

• Gene Symbol: MYO6   Gene   UCSC   Ensembl
• Aliases: DFNA22, DFNB37
• Gene name: myosin VI
• Alternate names: unconventional myosin-VI, unconventional myosin-6,
• Gene location: 6q14.1 (75749202: 75919536)     Exons: 40     NC_000006.12
• Gene summary(Entrez): This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site a
• OMIM: 600970

Protein Summary

• Protein general information: Q9UM54  
  • Name: Unconventional myosin VI (Unconventional myosin 6)
  • Length: 1294  
  • Mass: 149691
  • Tissue specificity: Expressed in most tissues examined including heart, brain, placenta, pancreas, spleen, thymus, prostate, testis, ovary, small intestine and colon. Highest levels in brain, pancreas, testis and small intestine. Also expressed in fetal b
• Sequence:

  MEDGKPVWAPHPTDGFQMGNIVDIGPDSLTIEPLNQKGKTFLALINQVFPAEEDSKKDVEDNCSLMYLNEATLLH
  NIKVRYSKDRIYTYVANILIAVNPYFDIPKIYSSEAIKSYQGKSLGTRPPHVFAIADKAFRDMKVLKMSQSIIVS
  GESGAGKTENTKFVLRYLTESYGTGQDIDDRIVEANPLLEAFGNAKTVRNNNSSRFGKFVEIHFNEKSSVVGGFV
  SHYLLEKSRICVQGKEERNYHIFYRLCAGASEDIREKLHLSSPDNFRYLNRGCTRYFANKETDKQILQNRKSPEY
  LKAGSMKDPLLDDHGDFIRMCTAMKKIGLDDEEKLDLFRVVAGVLHLGNIDFEEAGSTSGGCNLKNKSAQSLEYC
  AELLGLDQDDLRVSLTTRVMLTTAGGTKGTVIKVPLKVEQANNARDALAKTVYSHLFDHVVNRVNQCFPFETSSY
  FIGVLDIAGFEYFEHNSFEQFCINYCNEKLQQFFNERILKEEQELYQKEGLGVNEVHYVDNQDCIDLIEAKLVGI
  LDILDEENRLPQPSDQHFTSAVHQKHKDHFRLTIPRKSKLAVHRNIRDDEGFIIRHFAGAVCYETTQFVEKNNDA
  LHMSLESLICESRDKFIRELFESSTNNNKDTKQKAGKLSFISVGNKFKTQLNLLLDKLRSTGASFIRCIKPNLKM
  TSHHFEGAQILSQLQCSGMVSVLDLMQGGYPSRASFHELYNMYKKYMPDKLARLDPRLFCKALFKALGLNENDYK
  FGLTKVFFRPGKFAEFDQIMKSDPDHLAELVKRVNHWLTCSRWKKVQWCSLSVIKLKNKIKYRAEACIKMQKTIR
  MWLCKRRHKPRIDGLVKVGTLKKRLDKFNEVVSVLKDGKPEMNKQIKNLEISIDTLMAKIKSTMMTQEQIQKEYD
  ALVKSSEELLSALQKKKQQEEEAERLRRIQEEMEKERKRREEDEKRRRKEEEERRMKLEMEAKRKQEEEERKKRE
  DDEKRIQAEVEAQLARQKEEESQQQAVLEQERRDRELALRIAQSEAELISDEAQADLALRRSLDSYPVSKNDGTR
  PKMTPEQMAKEMSEFLSRGPAVLATKAAAGTKKYDLSKWKYAELRDTINTSCDIELLAACREEFHRRLKVYHAWK
  SKNKKRNTETEQRAPKSVTDYDFAPFLNNSPQQNPAAQIPARQREIEMNRQQRFFRIPFIRPADQYKDPQSKKKG
  WWYAHFDGPWIARQMELHPDKPPILLVAGKDDMEMCELNLEETGLTRKRGAEILPRQFEEIWERCGGIQYLQNAI
  ESRQARPTYATAMLQSLLK

• Structural information:
  • Protein Domains: (2..5-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (57..77-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (814..83-)
    (/note="IQ-)
    (/evidence="ECO:0000250|UniProtKB-)
  • Interpro: IPR036961  IPR032412  IPR001609  IPR004009  IPR008989   IPR036114  IPR027417  
  • Prosite: PS51456 PS51844
  • CDD: cd01382
  • PDB: 2N0Z 2N10 2N11 2N12 2N13 6E5N 6J56
  • PDBsum: 2N0Z 2N10 2N11 2N12 2N13 6E5N 6J56
  • DIP: 33123
  • STRING: ENSP00000358994
• Other Databases: GeneCards:  MYO6  Malacards:  MYO6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051015	actin filament binding	IBA	molecular function
GO:0042995	cell projection	IBA	cellular component
GO:0042491	inner ear auditory receptor cell differentiation	IBA	biological process
GO:0042472	inner ear morphogenesis	IBA	biological process
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:0001726	ruffle	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:0030139	endocytic vesicle	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0006897	endocytosis	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0032991	protein-containing complex	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0045177	apical part of cell	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030139	endocytic vesicle	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0032587	ruffle membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030665	clathrin-coated vesicle membrane	IEA	cellular component
GO:0005902	microvillus	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0005905	clathrin-coated pit	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030136	clathrin-coated vesicle	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0031941	filamentous actin	IDA	cellular component
GO:0030330	DNA damage response, signal transduction by p53 class mediator	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0051015	actin filament binding	IDA	molecular function
GO:0045334	clathrin-coated endocytic vesicle	IDA	colocalizes with
GO:0016591	RNA polymerase II, holoenzyme	IDA	cellular component
GO:0031410	cytoplasmic vesicle	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030048	actin filament-based movement	NAS	biological process
GO:0005516	calmodulin binding	ISS	molecular function
GO:0003774	motor activity	ISS	molecular function
GO:0051046	regulation of secretion	IMP	biological process
GO:0043531	ADP binding	ISS	molecular function
GO:0005884	actin filament	ISS	cellular component
GO:0030139	endocytic vesicle	ISS	colocalizes with
GO:0006897	endocytosis	ISS	biological process
GO:0005737	cytoplasm	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0060001	minus-end directed microfilament motor activity	NAS	molecular function
GO:0051015	actin filament binding	ISS	molecular function
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0030048	actin filament-based movement	ISS	biological process
GO:0005938	cell cortex	ISS	cellular component
GO:0005516	calmodulin binding	TAS	molecular function
GO:0003779	actin binding	TAS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0016461	unconventional myosin complex	TAS	cellular component
GO:0006897	endocytosis	IMP	biological process
GO:0006886	intracellular protein transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal dominant	KEGG:H00604
Sensorineural hearing loss	PMID:11468689
Prostate cancer	PMID:18543251
Ovarian cancer	PMID:15146066
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)