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P13533

- MYH6_HUMAN

UniProt

P13533 - MYH6_HUMAN

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Protein
Myosin-6
Gene
MYH6, MYHCA
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Muscle contraction.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi178 – 1858ATP

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATPase activity Source: HGNC
  3. actin-dependent ATPase activity Source: HGNC
  4. microfilament motor activity Source: BHF-UCL
  5. protein kinase binding Source: UniProtKB

GO - Biological processi

  1. ATP catabolic process Source: BHF-UCL
  2. BMP signaling pathway Source: Ensembl
  3. adult heart development Source: HGNC
  4. atrial cardiac muscle tissue morphogenesis Source: HGNC
  5. canonical Wnt signaling pathway Source: Ensembl
  6. cardiac muscle fiber development Source: BHF-UCL
  7. in utero embryonic development Source: BHF-UCL
  8. muscle contraction Source: HGNC
  9. muscle filament sliding Source: HGNC
  10. myofibril assembly Source: BHF-UCL
  11. regulation of ATPase activity Source: BHF-UCL
  12. regulation of blood pressure Source: BHF-UCL
  13. regulation of heart contraction Source: BHF-UCL
  14. regulation of heart growth Source: Ensembl
  15. regulation of heart rate Source: HGNC
  16. regulation of the force of heart contraction Source: BHF-UCL
  17. sarcomere organization Source: BHF-UCL
  18. striated muscle contraction Source: BHF-UCL
  19. ventricular cardiac muscle tissue morphogenesis Source: HGNC
  20. visceral muscle development Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Motor protein, Muscle protein, Myosin

Keywords - Ligandi

Actin-binding, ATP-binding, Calmodulin-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_16969. Striated Muscle Contraction.

Names & Taxonomyi

Protein namesi
Recommended name:
Myosin-6
Alternative name(s):
Myosin heavy chain 6
Myosin heavy chain, cardiac muscle alpha isoform
Short name:
MyHC-alpha
Gene namesi
Name:MYH6
Synonyms:MYHCA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:7576. MYH6.

Subcellular locationi

Cytoplasmmyofibril
Note: Thick filaments of the myofibrils.

GO - Cellular componenti

  1. Z disc Source: Ensembl
  2. cytoplasm Source: HPA
  3. cytosol Source: Reactome
  4. focal adhesion Source: HPA
  5. muscle myosin complex Source: UniProtKB
  6. myofibril Source: BHF-UCL
  7. myosin complex Source: HGNC
  8. myosin filament Source: UniProtKB-KW
  9. nucleus Source: HPA
  10. sarcomere Source: HGNC
  11. stress fiber Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Thick filament

Pathology & Biotechi

Involvement in diseasei

Atrial septal defect 3 (ASD3) [MIM:614089]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti820 – 8201I → N in ASD3. 1 Publication
VAR_031883
Cardiomyopathy, familial hypertrophic 14 (CMH14) [MIM:613251]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti795 – 7951R → Q in CMH14; late onset. 1 Publication
VAR_031882
Natural varianti1065 – 10651Q → H in CMH14. 1 Publication
VAR_063554
Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti830 – 8301P → L in CMD1EE. 1 Publication
VAR_063552
Natural varianti1004 – 10041A → S in CMD1EE. 1 Publication
Corresponds to variant rs143978652 [ dbSNP | Ensembl ].
VAR_063553
Natural varianti1457 – 14571E → K in CMD1EE. 1 Publication
VAR_063557
Sick sinus syndrome 3 (SSS3) [MIM:614090]: The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry (1 Publication). The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers (1 Publication).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti721 – 7211R → W in SSS3; rare variant predisposing to sick sinus syndrome. 1 Publication
VAR_065561

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

MIMi613251. phenotype.
613252. phenotype.
614089. phenotype.
614090. phenotype.
Orphaneti99103. Atrial septal defect, ostium secundum type.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
166282. Familial sick sinus syndrome.
PharmGKBiPA31373.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 19391939Myosin-6
PRO_0000123401Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei129 – 1291N6,N6,N6-trimethyllysine Reviewed prediction
Cross-linki206 – 206Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki207 – 207Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki214 – 214Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1281 – 1281Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1539 – 1539Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-linki1571 – 1571Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Keywords - PTMi

Isopeptide bond, Methylation, Ubl conjugation

Proteomic databases

MaxQBiP13533.
PaxDbiP13533.
PRIDEiP13533.

2D gel databases

UCD-2DPAGEP13533.

PTM databases

PhosphoSiteiP13533.

Expressioni

Gene expression databases

BgeeiP13533.
CleanExiHS_MYH6.
GenevestigatoriP13533.

Organism-specific databases

HPAiHPA001239.
HPA001349.

Interactioni

Subunit structurei

Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

Protein-protein interaction databases

BioGridi110709. 1 interaction.
MINTiMINT-2801052.
STRINGi9606.ENSP00000348634.

Structurei

3D structure databases

ProteinModelPortaliP13533.
SMRiP13533. Positions 3-843, 852-963.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini85 – 780696Myosin motor
Add
BLAST
Domaini783 – 81230IQ
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni657 – 67923Actin-binding
Add
BLAST
Regioni759 – 77315Actin-binding
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili842 – 19391098 Reviewed prediction
Add
BLAST

Domaini

The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

Sequence similaritiesi

Contains 1 IQ domain.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5022.
HOGENOMiHOG000173959.
HOVERGENiHBG004704.
InParanoidiP13533.
KOiK17751.
OMAiISQQNSK.
OrthoDBiEOG7RBZ7G.
PhylomeDBiP13533.
TreeFamiTF314375.

Family and domain databases

Gene3Di4.10.270.10. 1 hit.
InterProiIPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR001609. Myosin_head_motor_dom.
IPR004009. Myosin_N.
IPR002928. Myosin_tail.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSiPR00193. MYOSINHEAVY.
SMARTiSM00015. IQ. 2 hits.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P13533-1 [UniParc]FASTAAdd to Basket

« Hide

MTDAQMADFG AAAQYLRKSE KERLEAQTRP FDIRTECFVP DDKEEFVKAK     50
ILSREGGKVI AETENGKTVT VKEDQVLQQN PPKFDKIEDM AMLTFLHEPA 100
VLFNLKERYA AWMIYTYSGL FCVTVNPYKW LPVYNAEVVA AYRGKKRSEA 150
PPHIFSISDN AYQYMLTDRE NQSILITGES GAGKTVNTKR VIQYFASIAA 200
IGDRGKKDNA NANKGTLEDQ IIQANPALEA FGNAKTVRND NSSRFGKFIR 250
IHFGATGKLA SADIETYLLE KSRVIFQLKA ERNYHIFYQI LSNKKPELLD 300
MLLVTNNPYD YAFVSQGEVS VASIDDSEEL MATDSAFDVL GFTSEEKAGV 350
YKLTGAIMHY GNMKFKQKQR EEQAEPDGTE DADKSAYLMG LNSADLLKGL 400
CHPRVKVGNE YVTKGQSVQQ VYYSIGALAK AVYEKMFNWM VTRINATLET 450
KQPRQYFIGV LDIAGFEIFD FNSFEQLCIN FTNEKLQQFF NHHMFVLEQE 500
EYKKEGIEWT FIDFGMDLQA CIDLIEKPMG IMSILEEECM FPKATDMTFK 550
AKLYDNHLGK SNNFQKPRNI KGKQEAHFSL IHYAGTVDYN ILGWLEKNKD 600
PLNETVVALY QKSSLKLMAT LFSSYATADT GDSGKSKGGK KKGSSFQTVS 650
ALHRENLNKL MTNLRTTHPH FVRCIIPNER KAPGVMDNPL VMHQLRCNGV 700
LEGIRICRKG FPNRILYGDF RQRYRILNPV AIPEGQFIDS RKGTEKLLSS 750
LDIDHNQYKF GHTKVFFKAG LLGLLEEMRD ERLSRIITRM QAQARGQLMR 800
IEFKKIVERR DALLVIQWNI RAFMGVKNWP WMKLYFKIKP LLKSAETEKE 850
MATMKEEFGR IKETLEKSEA RRKELEEKMV SLLQEKNDLQ LQVQAEQDNL 900
NDAEERCDQL IKNKIQLEAK VKEMNERLED EEEMNAELTA KKRKLEDECS 950
ELKKDIDDLE LTLAKVEKEK HATENKVKNL TEEMAGLDEI IAKLTKEKKA 1000
LQEAHQQALD DLQVEEDKVN SLSKSKVKLE QQVDDLEGSL EQEKKVRMDL 1050
ERAKRKLEGD LKLTQESIMD LENDKLQLEE KLKKKEFDIN QQNSKIEDEQ 1100
VLALQLQKKL KENQARIEEL EEELEAERTA RAKVEKLRSD LSRELEEISE 1150
RLEEAGGATS VQIEMNKKRE AEFQKMRRDL EEATLQHEAT AAALRKKHAD 1200
SVAELGEQID NLQRVKQKLE KEKSEFKLEL DDVTSNMEQI IKAKANLEKV 1250
SRTLEDQANE YRVKLEEAQR SLNDFTTQRA KLQTENGELA RQLEEKEALI 1300
SQLTRGKLSY TQQMEDLKRQ LEEEGKAKNA LAHALQSARH DCDLLREQYE 1350
EETEAKAELQ RVLSKANSEV AQWRTKYETD AIQRTEELEE AKKKLAQRLQ 1400
DAEEAVEAVN AKCSSLEKTK HRLQNEIEDL MVDVERSNAA AAALDKKQRN 1450
FDKILAEWKQ KYEESQSELE SSQKEARSLS TELFKLKNAY EESLEHLETF 1500
KRENKNLQEE ISDLTEQLGE GGKNVHELEK VRKQLEVEKL ELQSALEEAE 1550
ASLEHEEGKI LRAQLEFNQI KAEIERKLAE KDEEMEQAKR NHQRVVDSLQ 1600
TSLDAETRSR NEVLRVKKKM EGDLNEMEIQ LSHANRMAAE AQKQVKSLQS 1650
LLKDTQIQLD DAVRANDDLK ENIAIVERRN NLLQAELEEL RAVVEQTERS 1700
RKLAEQELIE TSERVQLLHS QNTSLINQKK KMESDLTQLQ SEVEEAVQEC 1750
RNAEEKAKKA ITDAAMMAEE LKKEQDTSAH LERMKKNMEQ TIKDLQHRLD 1800
EAEQIALKGG KKQLQKLEAR VRELEGELEA EQKRNAESVK GMRKSERRIK 1850
ELTYQTEEDK KNLLRLQDLV DKLQLKVKAY KRQAEEAEEQ ANTNLSKFRK 1900
VQHELDEAEE RADIAESQVN KLRAKSRDIG AKQKMHDEE 1939
Length:1,939
Mass (Da):223,735
Last modified:January 11, 2011 - v5
Checksum:i424211CC048C8004
GO

Sequence cautioni

The sequence CAA29120.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561G → R.1 Publication
Corresponds to variant rs28711516 [ dbSNP | Ensembl ].
VAR_063550
Natural varianti88 – 881E → Q.2 Publications
Corresponds to variant rs442275 [ dbSNP | Ensembl ].
VAR_030203
Natural varianti275 – 2751I → N.1 Publication
VAR_063551
Natural varianti721 – 7211R → W in SSS3; rare variant predisposing to sick sinus syndrome. 1 Publication
VAR_065561
Natural varianti783 – 7831L → M.
Corresponds to variant rs11847151 [ dbSNP | Ensembl ].
VAR_030204
Natural varianti795 – 7951R → Q in CMH14; late onset. 1 Publication
VAR_031882
Natural varianti820 – 8201I → N in ASD3. 1 Publication
VAR_031883
Natural varianti830 – 8301P → L in CMD1EE. 1 Publication
VAR_063552
Natural varianti1004 – 10041A → S in CMD1EE. 1 Publication
Corresponds to variant rs143978652 [ dbSNP | Ensembl ].
VAR_063553
Natural varianti1065 – 10651Q → H in CMH14. 1 Publication
VAR_063554
Natural varianti1101 – 11011V → A.1 Publication
Corresponds to variant rs365990 [ dbSNP | Ensembl ].
VAR_030205
Natural varianti1130 – 11301A → T.1 Publication
Corresponds to variant rs28730771 [ dbSNP | Ensembl ].
VAR_063555
Natural varianti1295 – 12951E → Q.1 Publication
Corresponds to variant rs34935550 [ dbSNP | Ensembl ].
VAR_063556
Natural varianti1457 – 14571E → K in CMD1EE. 1 Publication
VAR_063557
Natural varianti1502 – 15021R → Q.1 Publication
VAR_063558
Natural varianti1593 – 15931Q → L.
Corresponds to variant rs45574136 [ dbSNP | Ensembl ].
VAR_061364
Natural varianti1737 – 17371T → S.1 Publication
Corresponds to variant rs1059854 [ dbSNP | Ensembl ].
VAR_030206

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti4 – 41A → S in CAA29120. 1 Publication
Sequence conflicti11 – 122AA → T in CAA29120. 1 Publication
Sequence conflicti574 – 5741Q → P in BAA00791. 1 Publication
Sequence conflicti608 – 6081A → G in BAA00791. 1 Publication
Sequence conflicti744 – 7441T → A in BAA00791. 1 Publication
Sequence conflicti790 – 7901M → I in BAA00791. 1 Publication
Sequence conflicti1014 – 10141V → A in BAA00791. 1 Publication
Sequence conflicti1021 – 10211S → T in BAA00791. 1 Publication
Sequence conflicti1290 – 12901A → S in BAA00791. 1 Publication
Sequence conflicti1373 – 13731W → C in BAA00791. 1 Publication
Sequence conflicti1533 – 15331K → N in AAA36344. 1 Publication
Sequence conflicti1540 – 15401L → M in AAA36344. 1 Publication
Sequence conflicti1577 – 15782KL → NV in AAA36344. 1 Publication
Sequence conflicti1705 – 17062EQ → DR in BAA00791. 1 Publication
Sequence conflicti1705 – 17062EQ → DR in AAA60387. 1 Publication
Sequence conflicti1733 – 17331E → D in BAA00791. 1 Publication
Sequence conflicti1733 – 17331E → D in AAA36344. 1 Publication
Sequence conflicti1734 – 17341S → A in BAA00791. 1 Publication
Sequence conflicti1734 – 17341S → A in AAA60387. 1 Publication
Sequence conflicti1734 – 17341S → A in AAA36344. 1 Publication
Sequence conflicti1763 – 17631D → H in BAA00791. 1 Publication
Sequence conflicti1788 – 17881M → I in AAA60387. 1 Publication
Sequence conflicti1871 – 18711D → N in AAA36344. 1 Publication
Sequence conflicti1882 – 18821R → G in AAA36344. 1 Publication
Sequence conflicti1890 – 18901Q → R in AAA36344. 1 Publication
Sequence conflicti1933 – 19331Missing in AAA36344. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D00943 mRNA. Translation: BAA00791.1.
Z20656 Genomic DNA. Translation: CAA79675.1.
GU324919 Genomic DNA. Translation: ADL14490.1.
AL049829 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW66154.1.
BC132667 mRNA. Translation: AAI32668.1.
M25140, M25162 Genomic DNA. Translation: AAA60386.1.
M25142, M25141 Genomic DNA. Translation: AAA60387.1.
X05632 Genomic DNA. Translation: CAA29120.1. Sequence problems.
M21664 mRNA. Translation: AAA36344.1.
CCDSiCCDS9600.1.
PIRiA46762.
RefSeqiNP_002462.2. NM_002471.3.
UniGeneiHs.278432.

Genome annotation databases

EnsembliENST00000356287; ENSP00000348634; ENSG00000197616.
ENST00000405093; ENSP00000386041; ENSG00000197616.
GeneIDi4624.
KEGGihsa:4624.
UCSCiuc001wjv.3. human.

Polymorphism databases

DMDMi317373582.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D00943 mRNA. Translation: BAA00791.1 .
Z20656 Genomic DNA. Translation: CAA79675.1 .
GU324919 Genomic DNA. Translation: ADL14490.1 .
AL049829 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW66154.1 .
BC132667 mRNA. Translation: AAI32668.1 .
M25140 , M25162 Genomic DNA. Translation: AAA60386.1 .
M25142 , M25141 Genomic DNA. Translation: AAA60387.1 .
X05632 Genomic DNA. Translation: CAA29120.1 . Sequence problems.
M21664 mRNA. Translation: AAA36344.1 .
CCDSi CCDS9600.1.
PIRi A46762.
RefSeqi NP_002462.2. NM_002471.3.
UniGenei Hs.278432.

3D structure databases

ProteinModelPortali P13533.
SMRi P13533. Positions 3-843, 852-963.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110709. 1 interaction.
MINTi MINT-2801052.
STRINGi 9606.ENSP00000348634.

PTM databases

PhosphoSitei P13533.

Polymorphism databases

DMDMi 317373582.

2D gel databases

UCD-2DPAGE P13533.

Proteomic databases

MaxQBi P13533.
PaxDbi P13533.
PRIDEi P13533.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000356287 ; ENSP00000348634 ; ENSG00000197616 .
ENST00000405093 ; ENSP00000386041 ; ENSG00000197616 .
GeneIDi 4624.
KEGGi hsa:4624.
UCSCi uc001wjv.3. human.

Organism-specific databases

CTDi 4624.
GeneCardsi GC14M023851.
GeneReviewsi MYH6.
HGNCi HGNC:7576. MYH6.
HPAi HPA001239.
HPA001349.
MIMi 160710. gene.
613251. phenotype.
613252. phenotype.
614089. phenotype.
614090. phenotype.
neXtProti NX_P13533.
Orphaneti 99103. Atrial septal defect, ostium secundum type.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
166282. Familial sick sinus syndrome.
PharmGKBi PA31373.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5022.
HOGENOMi HOG000173959.
HOVERGENi HBG004704.
InParanoidi P13533.
KOi K17751.
OMAi ISQQNSK.
OrthoDBi EOG7RBZ7G.
PhylomeDBi P13533.
TreeFami TF314375.

Enzyme and pathway databases

Reactomei REACT_147867. Translocation of GLUT4 to the plasma membrane.
REACT_16969. Striated Muscle Contraction.

Miscellaneous databases

ChiTaRSi MYH6. human.
GeneWikii MYH6.
GenomeRNAii 4624.
NextBioi 17798.
PROi P13533.
SOURCEi Search...

Gene expression databases

Bgeei P13533.
CleanExi HS_MYH6.
Genevestigatori P13533.

Family and domain databases

Gene3Di 4.10.270.10. 1 hit.
InterProi IPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR001609. Myosin_head_motor_dom.
IPR004009. Myosin_N.
IPR002928. Myosin_tail.
IPR027417. P-loop_NTPase.
[Graphical view ]
Pfami PF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view ]
PRINTSi PR00193. MYOSINHEAVY.
SMARTi SM00015. IQ. 2 hits.
SM00242. MYSc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS50096. IQ. 1 hit.
PS51456. MYOSIN_MOTOR. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequence of human cardiac alpha-myosin heavy chain gene and amino acid comparison to other myosins based on structural and functional differences."
    Matsuoka R., Beisel K.W., Furutani M., Arai S., Takao A.
    Am. J. Med. Genet. 41:537-547(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ALA-1101 AND SER-1737.
  2. "Structural organization of the human cardiac alpha-myosin heavy chain gene (MYH6)."
    Epp T.A., Dixon I.M., Wang H.Y., Sole M.J., Liew C.-C.
    Genomics 18:505-509(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLN-88.
  3. NHLBI resequencing and genotyping service (RS&G)
    Submitted (SEP-2009) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-177 AND 1551-1939, VARIANT GLN-88.
  8. Erratum
    Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.
    Proc. Natl. Acad. Sci. U.S.A. 86:7416-7417(1989)
  9. "Human cardiac myosin heavy chain genes and their linkage in the genome."
    Saez L.J., Gianola K.M., McNally E.M., Feghali R., Eddy R., Shows T.B., Leinwand L.A.
    Nucleic Acids Res. 15:5443-5459(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-67.
  10. "Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium."
    Kurabayashi M., Tsuchimochi H., Komuro I., Takaku F., Yazaki Y.
    J. Clin. Invest. 82:524-531(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1407-1939.
  11. "Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly."
    Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., Seidman C.E.
    Circulation 105:446-451(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMH14 GLN-795.
  12. "Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy."
    Carniel E., Taylor M.R., Sinagra G., Di Lenarda A., Ku L., Fain P.R., Boucek M.M., Cavanaugh J., Miocic S., Slavov D., Graw S.L., Feiger J., Zhu X.Z., Dao D., Ferguson D.A., Bristow M.R., Mestroni L.
    Circulation 112:54-59(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CMD1EE LEU-830; SER-1004 AND LYS-1457, VARIANT CMH14 HIS-1065, VARIANTS ARG-56; ASN-275; THR-1130; GLN-1295 AND GLN-1502.
  13. Cited for: VARIANT ASD3 ASN-820.
  14. Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SSS3, VARIANT SSS3 TRP-721.

Entry informationi

Entry nameiMYH6_HUMAN
AccessioniPrimary (citable) accession number: P13533
Secondary accession number(s): A2RTX1
, D9YZU2, Q13943, Q14906, Q14907
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 11, 2011
Last modified: September 3, 2014
This is version 153 of the entry and version 5 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a 'slow' ATPase.

Caution

Represents a conventional myosin. This protein should not be confused with the unconventional myosin-6 (MYO6).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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