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P13533

- MYH6_HUMAN

UniProt

P13533 - MYH6_HUMAN

Protein

Myosin-6

Gene

MYH6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 154 (01 Oct 2014)
      Sequence version 5 (11 Jan 2011)
      Previous versions | rss
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    Functioni

    Muscle contraction.

    Regions

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

    GO - Molecular functioni

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

    GO - Biological processi

    1. adult heart development Source: HGNC
    2. ATP catabolic process Source: BHF-UCL
    3. atrial cardiac muscle tissue morphogenesis Source: HGNC
    4. BMP signaling pathway Source: Ensembl
    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

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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.1 Publication
    Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers.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-6PRO_0000123401Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei129 – 1291N6,N6,N6-trimethyllysineSequence Analysis
    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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini85 – 780696Myosin motorAdd
    BLAST
    Domaini783 – 81230IQPROSITE-ProRule annotationAdd
    BLAST

    Region

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

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili842 – 19391098Sequence AnalysisAdd
    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.PROSITE-ProRule annotation
    Contains 1 myosin motor domain.Curated

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti4 – 41A → S in CAA29120. (PubMed:3037493)Curated
    Sequence conflicti11 – 122AA → T in CAA29120. (PubMed:3037493)Curated
    Sequence conflicti574 – 5741Q → P in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti608 – 6081A → G in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti744 – 7441T → A in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti790 – 7901M → I in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1014 – 10141V → A in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1021 – 10211S → T in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1290 – 12901A → S in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1373 – 13731W → C in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1533 – 15331K → N in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1540 – 15401L → M in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1577 – 15782KL → NV in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1705 – 17062EQ → DR in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1705 – 17062EQ → DR in AAA60387. (PubMed:2726733)Curated
    Sequence conflicti1733 – 17331E → D in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1733 – 17331E → D in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1734 – 17341S → A in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1734 – 17341S → A in AAA60387. (PubMed:2726733)Curated
    Sequence conflicti1734 – 17341S → A in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1763 – 17631D → H in BAA00791. (PubMed:1776652)Curated
    Sequence conflicti1788 – 17881M → I in AAA60387. (PubMed:2726733)Curated
    Sequence conflicti1871 – 18711D → N in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1882 – 18821R → G in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1890 – 18901Q → R in AAA36344. (PubMed:2969919)Curated
    Sequence conflicti1933 – 19331Missing in AAA36344. (PubMed:2969919)Curated

    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 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

    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: October 1, 2014
    This is version 154 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).Curated

    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