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P13533 (MYH6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Myosin-6
Alternative name(s):
Myosin heavy chain 6
Myosin heavy chain, cardiac muscle alpha isoform
Short name=MyHC-alpha
Gene names
Name:MYH6
Synonyms:MYHCA
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1939 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Muscle contraction.

Subunit structure

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).

Subcellular location

Cytoplasmmyofibril. Note: Thick filaments of the myofibrils.

Domain

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).

Involvement in disease

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. Ref.13

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. Ref.11 Ref.12

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. Ref.12

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 (Ref.14). The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers (Ref.14). Ref.14

Miscellaneous

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

Sequence similarities

Contains 1 IQ domain.

Contains 1 myosin head-like domain.

Caution

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

Sequence caution

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

Ontologies

Keywords
   Cellular componentCytoplasm
Thick filament
   Coding sequence diversityPolymorphism
   DiseaseAtrial septal defect
Cardiomyopathy
Disease mutation
   DomainCoiled coil
   LigandActin-binding
ATP-binding
Calmodulin-binding
Nucleotide-binding
   Molecular functionMotor protein
Muscle protein
Myosin
   PTMIsopeptide bond
Methylation
Ubl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processATP catabolic process

Inferred from direct assay. Source: GOC

BMP signaling pathway

Inferred from electronic annotation. Source: Ensembl

adult heart development

Inferred from mutant phenotype Ref.13Ref.12. Source: HGNC

atrial cardiac muscle tissue morphogenesis

Inferred from mutant phenotype Ref.13. Source: HGNC

canonical Wnt signaling pathway

Inferred from electronic annotation. Source: Ensembl

cardiac muscle fiber development

Inferred from sequence or structural similarity. Source: BHF-UCL

in utero embryonic development

Inferred from sequence or structural similarity. Source: BHF-UCL

metabolic process

Inferred from sequence or structural similarity. Source: GOC

muscle contraction

Inferred from direct assay PubMed 15621050. Source: HGNC

muscle filament sliding

Inferred from mutant phenotype PubMed 16088376. Source: HGNC

myofibril assembly

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of ATPase activity

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of blood pressure

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of heart contraction

Inferred from sequence or structural similarity. Source: BHF-UCL

regulation of heart growth

Inferred from electronic annotation. Source: Ensembl

regulation of heart rate

Inferred from direct assay PubMed 15621050. Source: HGNC

regulation of the force of heart contraction

Inferred from sequence or structural similarity. Source: BHF-UCL

sarcomere organization

Inferred from sequence or structural similarity. Source: BHF-UCL

striated muscle contraction

Inferred from sequence or structural similarity. Source: BHF-UCL

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype Ref.11Ref.12. Source: HGNC

visceral muscle development

Inferred from sequence or structural similarity. Source: BHF-UCL

   Cellular_componentZ disc

Inferred from electronic annotation. Source: Ensembl

cytoplasm

Inferred from direct assay. Source: HPA

cytosol

Traceable author statement. Source: Reactome

focal adhesion

Inferred from direct assay. Source: HPA

muscle myosin complex

Traceable author statement Ref.1. Source: UniProtKB

myofibril

Inferred from sequence or structural similarity. Source: BHF-UCL

myosin complex

Traceable author statement PubMed 12933792. Source: HGNC

myosin filament

Inferred from electronic annotation. Source: UniProtKB-KW

nucleus

Inferred from direct assay. Source: HPA

sarcomere

Traceable author statement PubMed 12933792. Source: HGNC

stress fiber

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATPase activity

Inferred from direct assay PubMed 15621050. Source: HGNC

actin-dependent ATPase activity

Inferred from mutant phenotype PubMed 16088376. Source: HGNC

microfilament motor activity

Inferred from sequence or structural similarity. Source: BHF-UCL

protein kinase binding

Inferred from physical interaction PubMed 18029400PubMed 18429820. Source: UniProtKB

structural constituent of muscle

Inferred from direct assay. Source: HGNC

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 19391939Myosin-6
PRO_0000123401

Regions

Domain1 – 782782Myosin head-like
Domain783 – 81230IQ
Nucleotide binding178 – 1858ATP
Region657 – 67923Actin-binding
Region759 – 77315Actin-binding
Coiled coil842 – 19391098 Potential

Amino acid modifications

Modified residue1291N6,N6,N6-trimethyllysine Potential
Cross-link206Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link207Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link214Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link1281Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link1539Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Cross-link1571Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity

Natural variations

Natural variant561G → R. Ref.12
Corresponds to variant rs28711516 [ dbSNP | Ensembl ].
VAR_063550
Natural variant881E → Q. Ref.2 Ref.7
Corresponds to variant rs442275 [ dbSNP | Ensembl ].
VAR_030203
Natural variant2751I → N. Ref.12
VAR_063551
Natural variant7211R → W in SSS3; rare variant predisposing to sick sinus syndrome. Ref.14
VAR_065561
Natural variant7831L → M.
Corresponds to variant rs11847151 [ dbSNP | Ensembl ].
VAR_030204
Natural variant7951R → Q in CMH14; late onset. Ref.11
VAR_031882
Natural variant8201I → N in ASD3. Ref.13
VAR_031883
Natural variant8301P → L in CMD1EE. Ref.12
VAR_063552
Natural variant10041A → S in CMD1EE. Ref.12
Corresponds to variant rs143978652 [ dbSNP | Ensembl ].
VAR_063553
Natural variant10651Q → H in CMH14. Ref.12
VAR_063554
Natural variant11011V → A. Ref.1
Corresponds to variant rs365990 [ dbSNP | Ensembl ].
VAR_030205
Natural variant11301A → T. Ref.12
Corresponds to variant rs28730771 [ dbSNP | Ensembl ].
VAR_063555
Natural variant12951E → Q. Ref.12
Corresponds to variant rs34935550 [ dbSNP | Ensembl ].
VAR_063556
Natural variant14571E → K in CMD1EE. Ref.12
VAR_063557
Natural variant15021R → Q. Ref.12
VAR_063558
Natural variant15931Q → L.
Corresponds to variant rs45574136 [ dbSNP | Ensembl ].
VAR_061364
Natural variant17371T → S. Ref.1
Corresponds to variant rs1059854 [ dbSNP | Ensembl ].
VAR_030206

Experimental info

Sequence conflict41A → S in CAA29120. Ref.9
Sequence conflict11 – 122AA → T in CAA29120. Ref.9
Sequence conflict5741Q → P in BAA00791. Ref.1
Sequence conflict6081A → G in BAA00791. Ref.1
Sequence conflict7441T → A in BAA00791. Ref.1
Sequence conflict7901M → I in BAA00791. Ref.1
Sequence conflict10141V → A in BAA00791. Ref.1
Sequence conflict10211S → T in BAA00791. Ref.1
Sequence conflict12901A → S in BAA00791. Ref.1
Sequence conflict13731W → C in BAA00791. Ref.1
Sequence conflict15331K → N in AAA36344. Ref.10
Sequence conflict15401L → M in AAA36344. Ref.10
Sequence conflict1577 – 15782KL → NV in AAA36344. Ref.10
Sequence conflict1705 – 17062EQ → DR in BAA00791. Ref.1
Sequence conflict1705 – 17062EQ → DR in AAA60387. Ref.7
Sequence conflict17331E → D in BAA00791. Ref.1
Sequence conflict17331E → D in AAA36344. Ref.10
Sequence conflict17341S → A in BAA00791. Ref.1
Sequence conflict17341S → A in AAA60387. Ref.7
Sequence conflict17341S → A in AAA36344. Ref.10
Sequence conflict17631D → H in BAA00791. Ref.1
Sequence conflict17881M → I in AAA60387. Ref.7
Sequence conflict18711D → N in AAA36344. Ref.10
Sequence conflict18821R → G in AAA36344. Ref.10
Sequence conflict18901Q → R in AAA36344. Ref.10
Sequence conflict19331Missing in AAA36344. Ref.10

Sequences

Sequence LengthMass (Da)Tools
P13533 [UniParc].

Last modified January 11, 2011. Version 5.
Checksum: 424211CC048C8004

FASTA1,939223,735
        10         20         30         40         50         60 
MTDAQMADFG AAAQYLRKSE KERLEAQTRP FDIRTECFVP DDKEEFVKAK ILSREGGKVI 

        70         80         90        100        110        120 
AETENGKTVT VKEDQVLQQN PPKFDKIEDM AMLTFLHEPA VLFNLKERYA AWMIYTYSGL 

       130        140        150        160        170        180 
FCVTVNPYKW LPVYNAEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES 

       190        200        210        220        230        240 
GAGKTVNTKR VIQYFASIAA IGDRGKKDNA NANKGTLEDQ IIQANPALEA FGNAKTVRND 

       250        260        270        280        290        300 
NSSRFGKFIR IHFGATGKLA SADIETYLLE KSRVIFQLKA ERNYHIFYQI LSNKKPELLD 

       310        320        330        340        350        360 
MLLVTNNPYD YAFVSQGEVS VASIDDSEEL MATDSAFDVL GFTSEEKAGV YKLTGAIMHY 

       370        380        390        400        410        420 
GNMKFKQKQR EEQAEPDGTE DADKSAYLMG LNSADLLKGL CHPRVKVGNE YVTKGQSVQQ 

       430        440        450        460        470        480 
VYYSIGALAK AVYEKMFNWM VTRINATLET KQPRQYFIGV LDIAGFEIFD FNSFEQLCIN 

       490        500        510        520        530        540 
FTNEKLQQFF NHHMFVLEQE EYKKEGIEWT FIDFGMDLQA CIDLIEKPMG IMSILEEECM 

       550        560        570        580        590        600 
FPKATDMTFK AKLYDNHLGK SNNFQKPRNI KGKQEAHFSL IHYAGTVDYN ILGWLEKNKD 

       610        620        630        640        650        660 
PLNETVVALY QKSSLKLMAT LFSSYATADT GDSGKSKGGK KKGSSFQTVS ALHRENLNKL 

       670        680        690        700        710        720 
MTNLRTTHPH FVRCIIPNER KAPGVMDNPL VMHQLRCNGV LEGIRICRKG FPNRILYGDF 

       730        740        750        760        770        780 
RQRYRILNPV AIPEGQFIDS RKGTEKLLSS LDIDHNQYKF GHTKVFFKAG LLGLLEEMRD 

       790        800        810        820        830        840 
ERLSRIITRM QAQARGQLMR IEFKKIVERR DALLVIQWNI RAFMGVKNWP WMKLYFKIKP 

       850        860        870        880        890        900 
LLKSAETEKE MATMKEEFGR IKETLEKSEA RRKELEEKMV SLLQEKNDLQ LQVQAEQDNL 

       910        920        930        940        950        960 
NDAEERCDQL IKNKIQLEAK VKEMNERLED EEEMNAELTA KKRKLEDECS ELKKDIDDLE 

       970        980        990       1000       1010       1020 
LTLAKVEKEK HATENKVKNL TEEMAGLDEI IAKLTKEKKA LQEAHQQALD DLQVEEDKVN 

      1030       1040       1050       1060       1070       1080 
SLSKSKVKLE QQVDDLEGSL EQEKKVRMDL ERAKRKLEGD LKLTQESIMD LENDKLQLEE 

      1090       1100       1110       1120       1130       1140 
KLKKKEFDIN QQNSKIEDEQ VLALQLQKKL KENQARIEEL EEELEAERTA RAKVEKLRSD 

      1150       1160       1170       1180       1190       1200 
LSRELEEISE RLEEAGGATS VQIEMNKKRE AEFQKMRRDL EEATLQHEAT AAALRKKHAD 

      1210       1220       1230       1240       1250       1260 
SVAELGEQID NLQRVKQKLE KEKSEFKLEL DDVTSNMEQI IKAKANLEKV SRTLEDQANE 

      1270       1280       1290       1300       1310       1320 
YRVKLEEAQR SLNDFTTQRA KLQTENGELA RQLEEKEALI SQLTRGKLSY TQQMEDLKRQ 

      1330       1340       1350       1360       1370       1380 
LEEEGKAKNA LAHALQSARH DCDLLREQYE EETEAKAELQ RVLSKANSEV AQWRTKYETD 

      1390       1400       1410       1420       1430       1440 
AIQRTEELEE AKKKLAQRLQ DAEEAVEAVN AKCSSLEKTK HRLQNEIEDL MVDVERSNAA 

      1450       1460       1470       1480       1490       1500 
AAALDKKQRN FDKILAEWKQ KYEESQSELE SSQKEARSLS TELFKLKNAY EESLEHLETF 

      1510       1520       1530       1540       1550       1560 
KRENKNLQEE ISDLTEQLGE GGKNVHELEK VRKQLEVEKL ELQSALEEAE ASLEHEEGKI 

      1570       1580       1590       1600       1610       1620 
LRAQLEFNQI KAEIERKLAE KDEEMEQAKR NHQRVVDSLQ TSLDAETRSR NEVLRVKKKM 

      1630       1640       1650       1660       1670       1680 
EGDLNEMEIQ LSHANRMAAE AQKQVKSLQS LLKDTQIQLD DAVRANDDLK ENIAIVERRN 

      1690       1700       1710       1720       1730       1740 
NLLQAELEEL RAVVEQTERS RKLAEQELIE TSERVQLLHS QNTSLINQKK KMESDLTQLQ 

      1750       1760       1770       1780       1790       1800 
SEVEEAVQEC RNAEEKAKKA ITDAAMMAEE LKKEQDTSAH LERMKKNMEQ TIKDLQHRLD 

      1810       1820       1830       1840       1850       1860 
EAEQIALKGG KKQLQKLEAR VRELEGELEA EQKRNAESVK GMRKSERRIK ELTYQTEEDK 

      1870       1880       1890       1900       1910       1920 
KNLLRLQDLV DKLQLKVKAY KRQAEEAEEQ ANTNLSKFRK VQHELDEAEE RADIAESQVN 

      1930 
KLRAKSRDIG AKQKMHDEE 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Characterization of human cardiac myosin heavy chain genes."
Yamauchi-Takihara K., Sole M.J., Liew J., Ing D., Liew C.-C.
Proc. Natl. Acad. Sci. U.S.A. 86:3504-3508(1989) [PubMed] [Europe PMC] [Abstract]
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]"Mutation in myosin heavy chain 6 causes atrial septal defect."
Ching Y.-H., Ghosh T.K., Cross S.J., Packham E.A., Honeyman L., Loughna S., Robinson T.E., Dearlove A.M., Ribas G., Bonser A.J., Thomas N.R., Scotter A.J., Caves L.S.D., Tyrrell G.P., Newbury-Ecob R.A., Munnich A., Bonnet D., Brook J.D.
Nat. Genet. 37:423-428(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASD3 ASN-820.
[14]"A rare variant in MYH6 is associated with high risk of sick sinus syndrome."
Holm H., Gudbjartsson D.F., Sulem P., Masson G., Helgadottir H.T., Zanon C., Magnusson O.T., Helgason A., Saemundsdottir J., Gylfason A., Stefansdottir H., Gretarsdottir S., Matthiasson S.E., Thorgeirsson G.M., Jonasdottir A., Sigurdsson A., Stefansson H., Werge T. expand/collapse author list , Rafnar T., Kiemeney L.A., Parvez B., Muhammad R., Roden D.M., Darbar D., Thorleifsson G., Walters G.B., Kong A., Thorsteinsdottir U., Arnar D.O., Stefansson K.
Nat. Genet. 43:316-320(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SSS3, VARIANT SSS3 TRP-721.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRA46762.
RefSeqNP_002462.2. NM_002471.3.
UniGeneHs.278432.

3D structure databases

ProteinModelPortalP13533.
SMRP13533. Positions 3-843, 852-963.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110709. 1 interaction.
MINTMINT-2801052.
STRING9606.ENSP00000348634.

PTM databases

PhosphoSiteP13533.

Polymorphism databases

DMDM317373582.

2D gel databases

UCD-2DPAGEP13533.

Proteomic databases

PaxDbP13533.
PRIDEP13533.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356287; ENSP00000348634; ENSG00000197616.
ENST00000405093; ENSP00000386041; ENSG00000197616.
GeneID4624.
KEGGhsa:4624.
UCSCuc001wjv.3. human.

Organism-specific databases

CTD4624.
GeneCardsGC14M023851.
HGNCHGNC:7576. MYH6.
HPAHPA001239.
HPA001349.
MIM160710. gene.
613251. phenotype.
613252. phenotype.
614089. phenotype.
614090. phenotype.
neXtProtNX_P13533.
Orphanet99103. Atrial septal defect, ostium secundum type.
154. Familial isolated dilated cardiomyopathy.
155. Familial isolated hypertrophic cardiomyopathy.
166282. Familial sick sinus syndrome.
PharmGKBPA31373.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5022.
HOGENOMHOG000173959.
HOVERGENHBG004704.
InParanoidP13533.
KOK17751.
OMAISQQNSK.
OrthoDBEOG7RBZ7G.
PhylomeDBP13533.
TreeFamTF314375.

Enzyme and pathway databases

ReactomeREACT_11123. Membrane Trafficking.
REACT_17044. Muscle contraction.

Gene expression databases

BgeeP13533.
CleanExHS_MYH6.
GenevestigatorP13533.

Family and domain databases

Gene3D4.10.270.10. 1 hit.
InterProIPR000048. IQ_motif_EF-hand-BS.
IPR027401. Myosin-like_IQ_dom.
IPR015650. Myosin_1/23/4/6/7/8/13/15.
IPR001609. Myosin_head_motor_dom.
IPR004009. Myosin_N.
IPR002928. Myosin_tail.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERPTHR13140:SF22. PTHR13140:SF22. 1 hit.
PfamPF00063. Myosin_head. 1 hit.
PF02736. Myosin_N. 1 hit.
PF01576. Myosin_tail_1. 1 hit.
[Graphical view]
PRINTSPR00193. MYOSINHEAVY.
SMARTSM00015. IQ. 2 hits.
SM00242. MYSc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS50096. IQ. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMYH6. human.
GeneWikiMYH6.
GenomeRNAi4624.
NextBio17798.
PROP13533.
SOURCESearch...

Entry information

Entry nameMYH6_HUMAN
AccessionPrimary (citable) accession number: P13533
Secondary accession number(s): A2RTX1 expand/collapse secondary AC list , D9YZU2, Q13943, Q14906, Q14907
Entry history
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 149 of the entry and version 5 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM