• Gene id: 4624

Gene Summary

• Gene Symbol: MYH6   Gene   UCSC   Ensembl
• Aliases: ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC
• Gene name: myosin heavy chain 6
• Alternate names: myosin-6, myHC-alpha, myosin heavy chain, cardiac muscle alpha isoform, myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1),
• Gene location: 14q11.2 (23408272: 23381986)     Exons: 39     NC_000014.9
• Gene summary(Entrez): Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the ge
• OMIM: 160790

Protein Summary

• Protein general information: P13533  
  • Name: Myosin 6 (Myosin heavy chain 6) (Myosin heavy chain, cardiac muscle alpha isoform) (MyHC alpha)
  • Length: 1939  
  • Mass: 223735
• Sequence:

  MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVIAETENGKTVTVKEDQ
  VLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYNAEVVAAYRGKKRSEA
  PPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQAN
  PALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLD
  MLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHYGNMKFKQKQREEQAE
  PDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQVYYSIGALAKAVYEKMFNWMVTRINATLET
  KQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLI
  EKPMGIMSILEEECMFPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKD
  PLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKLMTNLRTTHPHFVRCI
  IPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPVAIPEGQFIDSRKGTEKLLSS
  LDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMG
  VKNWPWMKLYFKIKPLLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNL
  NDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATEN
  KVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVNSLSKSKVKLEQQVDDLEGSLEQEKKVRMDL
  ERAKRKLEGDLKLTQESIMDLENDKLQLEEKLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELE
  AERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
  SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANEYRVKLEEAQRSLNDF
  TTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQLEEEGKAKNALAHALQSARHDCDLLREQYE
  EETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQN
  EIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETF
  KRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIE
  RKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQS
  LLKDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSL
  INQKKKMESDLTQLQSEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLD
  EAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDKKNLLRLQDLVDKLQL
  KVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGAKQKMHDEE

• Structural information:
  • Protein Domains: (32..8-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (85..78-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (783..81-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR027401  IPR004009   IPR008989  IPR002928  IPR027417  
  • Prosite: PS50096 PS51456 PS51844
  • STRING: ENSP00000386041
• Other Databases: GeneCards:  MYH6  Malacards:  MYH6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006936	muscle contraction	IDA	biological process
GO:0016887	ATPase activity	IDA	molecular function
GO:0007512	adult heart development	IMP	biological process
GO:0007512	adult heart development	IMP	biological process
GO:0055009	atrial cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0030049	muscle filament sliding	IMP	biological process
GO:0030898	actin-dependent ATPase activity	IMP	molecular function
GO:0002027	regulation of heart rate	IDA	biological process
GO:0016459	myosin complex	TAS	cellular component
GO:0030017	sarcomere	TAS	cellular component
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:0005516	calmodulin binding	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0032982	myosin filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0017018	myosin phosphatase activity	TAS	molecular function
GO:0030049	muscle filament sliding	TAS	biological process
GO:0060420	regulation of heart growth	IEA	biological process
GO:0043462	regulation of ATPase activity	IEA	biological process
GO:0030048	actin filament-based movement	IEA	biological process
GO:0014898	cardiac muscle hypertrophy in response to stress	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008016	regulation of heart contraction	IEA	biological process
GO:0000146	microfilament motor activity	IEA	molecular function
GO:0060048	cardiac muscle contraction	IEA	biological process
GO:0048739	cardiac muscle fiber development	IEA	biological process
GO:0045214	sarcomere organization	IEA	biological process
GO:0030239	myofibril assembly	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0007522	visceral muscle development	IEA	biological process
GO:0007512	adult heart development	IEA	biological process
GO:0006941	striated muscle contraction	IEA	biological process
GO:0002027	regulation of heart rate	IEA	biological process
GO:0002026	regulation of the force of heart contraction	IEA	biological process
GO:0001725	stress fiber	IEA	cellular component
GO:0001701	in utero embryonic development	IEA	biological process
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0000146	microfilament motor activity	ISS	molecular function
GO:0046034	ATP metabolic process	IDA	biological process
GO:0008016	regulation of heart contraction	ISS	biological process
GO:0008217	regulation of blood pressure	ISS	biological process
GO:0043462	regulation of ATPase activity	ISS	biological process
GO:0002026	regulation of the force of heart contraction	IDA	biological process
GO:0001701	in utero embryonic development	ISS	biological process
GO:0002026	regulation of the force of heart contraction	ISS	biological process
GO:0006941	striated muscle contraction	ISS	biological process
GO:0006941	striated muscle contraction	IMP	biological process
GO:0007522	visceral muscle development	ISS	biological process
GO:0030016	myofibril	ISS	cellular component
GO:0030239	myofibril assembly	ISS	biological process
GO:0045214	sarcomere organization	ISS	biological process
GO:0048739	cardiac muscle fiber development	ISS	biological process
GO:0060048	cardiac muscle contraction	ISS	biological process
GO:0030016	myofibril	IEA	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005859	muscle myosin complex	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04919	Thyroid hormone signaling pathway
hsa04260	Cardiac muscle contraction
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
Atrial septal defect	KEGG:H00546
Dilated cardiomyopathy	KEGG:H00294
Hypertrophic cardiomyopathy	KEGG:H00292
Atrial septal defect	KEGG:H00546
Atrial heart septal defect	PMID:15735645
Wolff-Parkinson-White syndrome	PMID:26284702
congestive heart failure	PMID:9410916
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray