P13533 (MYH6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1939 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › myofibril. 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.12 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.10 Ref.11 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.11 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.13). The lifetime risk of being diagnosed with sick sinus syndrome is higher for carriers of variant p.Arg721Trp than for non-carriers (Ref.13). Ref.13
Miscellaneous	The cardiac alpha isoform is a 'fast' ATPase myosin, while the beta isoform is a '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 component	Cytoplasm Thick filament
Coding sequence diversity	Polymorphism
Disease	Atrial septal defect Cardiomyopathy Disease mutation
Domain	Coiled coil
Ligand	ATP-binding Actin-binding Calmodulin-binding Nucleotide-binding
Molecular function	Motor protein Muscle protein Myosin
PTM	Isopeptide bond Methylation Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	BMP signaling pathway Inferred from electronic annotation. Source: Compara adult heart development Inferred from mutant phenotype Ref.12Ref.11. Source: HGNC atrial cardiac muscle tissue morphogenesis Inferred from mutant phenotype Ref.12. Source: HGNC canonical Wnt receptor signaling pathway Inferred from electronic annotation. Source: Compara 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 muscle filament sliding Inferred from mutant phenotype PubMed 16088376. Source: HGNC 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 growth Inferred from electronic annotation. Source: Compara 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.10Ref.11. Source: HGNC visceral muscle development Inferred from sequence or structural similarity. Source: BHF-UCL
Cellular_component	Z disc Inferred from electronic annotation. Source: Compara cytosol Traceable author statement. Source: Reactome focal adhesion Inferred from direct assay. Source: HPA muscle myosin complex Traceable author statement Ref.1. Source: UniProtKB myosin filament Inferred from electronic annotation. Source: UniProtKB-KW nucleolus Inferred from direct assay. Source: HPA sarcomere Traceable author statement PubMed 12933792. Source: HGNC stress fiber Inferred from electronic annotation. Source: Compara
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW actin-dependent ATPase activity Inferred from mutant phenotype PubMed 16088376. Source: HGNC microfilament motor activity Inferred from sequence or structural similarity. Source: BHF-UCL structural constituent of muscle Inferred from direct assay PubMed 15621050PubMed 16088376. Source: HGNC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1939	1939	Myosin-6		PRO_0000123401
Regions
	Domain	1 – 782	782	Myosin head-like
	Domain	783 – 812	30	IQ
	Nucleotide binding	178 – 185	8	ATP
	Region	657 – 679	23	Actin-binding
	Region	759 – 773	15	Actin-binding
	Coiled coil	842 – 1939	1098	Potential
Amino acid modifications
	Modified residue	129	1	N6,N6,N6-trimethyllysine Potential
	Cross-link	206		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
	Cross-link	207		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
	Cross-link	214		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
	Cross-link	1281		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
	Cross-link	1539		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
	Cross-link	1571		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) By similarity
Natural variations
	Natural variant	56	1	G → R. Ref.11		VAR_063550
	Natural variant	88	1	E → Q. Ref.2 Ref.6 Corresponds to variant rs442275 [ dbSNP | Ensembl ].		VAR_030203
	Natural variant	275	1	I → N. Ref.11		VAR_063551
	Natural variant	721	1	R → W in SSS3; rare variant predisposing to sick sinus syndrome. Ref.13		VAR_065561
	Natural variant	783	1	L → M. Corresponds to variant rs11847151 [ dbSNP | Ensembl ].		VAR_030204
	Natural variant	795	1	R → Q in CMH14; late onset. Ref.10		VAR_031882
	Natural variant	820	1	I → N in ASD3. Ref.12		VAR_031883
	Natural variant	830	1	P → L in CMD1EE. Ref.11		VAR_063552
	Natural variant	1004	1	A → S in CMD1EE. Ref.11		VAR_063553
	Natural variant	1065	1	Q → H in CMH14. Ref.11		VAR_063554
	Natural variant	1101	1	V → A. Ref.1 Corresponds to variant rs365990 [ dbSNP | Ensembl ].		VAR_030205
	Natural variant	1130	1	A → T. Ref.11		VAR_063555
	Natural variant	1295	1	E → Q. Ref.11		VAR_063556
	Natural variant	1457	1	E → K in CMD1EE. Ref.11		VAR_063557
	Natural variant	1502	1	R → Q. Ref.11		VAR_063558
	Natural variant	1593	1	Q → L. Corresponds to variant rs45574136 [ dbSNP | Ensembl ].		VAR_061364
	Natural variant	1737	1	T → S. Ref.1 Corresponds to variant rs1059854 [ dbSNP | Ensembl ].		VAR_030206
Experimental info
	Sequence conflict	4	1	A → S in CAA29120. Ref.8
	Sequence conflict	11 – 12	2	AA → T in CAA29120. Ref.8
	Sequence conflict	574	1	Q → P in BAA00791. Ref.1
	Sequence conflict	608	1	A → G in BAA00791. Ref.1
	Sequence conflict	744	1	T → A in BAA00791. Ref.1
	Sequence conflict	790	1	M → I in BAA00791. Ref.1
	Sequence conflict	1014	1	V → A in BAA00791. Ref.1
	Sequence conflict	1021	1	S → T in BAA00791. Ref.1
	Sequence conflict	1290	1	A → S in BAA00791. Ref.1
	Sequence conflict	1373	1	W → C in BAA00791. Ref.1
	Sequence conflict	1533	1	K → N in AAA36344. Ref.9
	Sequence conflict	1540	1	L → M in AAA36344. Ref.9
	Sequence conflict	1577 – 1578	2	KL → NV in AAA36344. Ref.9
	Sequence conflict	1705 – 1706	2	EQ → DR in BAA00791. Ref.1
	Sequence conflict	1705 – 1706	2	EQ → DR in AAA60387. Ref.6
	Sequence conflict	1733	1	E → D in BAA00791. Ref.1
	Sequence conflict	1733	1	E → D in AAA36344. Ref.9
	Sequence conflict	1734	1	S → A in BAA00791. Ref.1
	Sequence conflict	1734	1	S → A in AAA60387. Ref.6
	Sequence conflict	1734	1	S → A in AAA36344. Ref.9
	Sequence conflict	1763	1	D → H in BAA00791. Ref.1
	Sequence conflict	1788	1	M → I in AAA60387. Ref.6
	Sequence conflict	1871	1	D → N in AAA36344. Ref.9
	Sequence conflict	1882	1	R → G in AAA36344. Ref.9
	Sequence conflict	1890	1	Q → R in AAA36344. Ref.9
	Sequence conflict	1933	1	Missing in AAA36344. Ref.9

Sequences

	Sequence		Length	Mass (Da)
	P13533 [UniParc]. Last modified January 11, 2011. Version 5. Checksum: 424211CC048C8004	FASTA	1,939	223,735
	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

References

	« Hide 'large scale' referencesShow '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]	"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].
[4]	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. , 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].
[5]	"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].
[6]	"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.
[7]	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)
[8]	"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.
[9]	"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.
[10]	"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.
[11]	"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.
[12]	"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.
[13]	"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. , 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

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	D00943 mRNA. Translation: BAA00791.1. Z20656 Genomic DNA. Translation: CAA79675.1. 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.
IPI	IPI00514201.
PIR	A46762.
RefSeq	NP_002462.2. NM_002471.3.
UniGene	Hs.278432.
3D structure databases
ProteinModelPortal	P13533.
SMR	P13533. Positions 3-843, 852-963.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000348634.
PTM databases
PhosphoSite	P13533.
Polymorphism databases
DMDM	215274256.
2D gel databases
UCD-2DPAGE	P13533.
Proteomic databases
PaxDb	P13533.
PRIDE	P13533.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000356287; ENSP00000348634; ENSG00000197616. ENST00000405093; ENSP00000386041; ENSG00000197616.
GeneID	4624.
KEGG	hsa:4624.
UCSC	uc001wjv.3. human.
Organism-specific databases
CTD	4624.
GeneCards	GC14M023851.
HGNC	HGNC:7576. MYH6.
HPA	HPA001239. HPA001349.
MIM	160710. gene. 613251. phenotype. 613252. phenotype. 614089. phenotype. 614090. phenotype.
neXtProt	NX_P13533.
Orphanet	99103. Atrial septal defect, ostium secundum type. 154. Familial isolated dilated cardiomyopathy. 155. Familial isolated hypertrophic cardiomyopathy. 166282. Sick sinus syndrome.
PharmGKB	PA31373.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5022.
HOGENOM	HOG000173959.
HOVERGEN	HBG004704.
InParanoid	P13533.
KO	K10352.
OMA	ISQQNSK.
OrthoDB	EOG42JNQH.
Enzyme and pathway databases
Reactome	REACT_17044. Muscle contraction.
Gene expression databases
ArrayExpress	P13533.
Bgee	P13533.
CleanEx	HS_MYH6.
Genevestigator	P13533.
GermOnline	ENSG00000197616. Homo sapiens.
Family and domain databases
InterPro	IPR000048. IQ_motif_EF-hand-BS. IPR001609. Myosin_head_motor_dom. IPR004009. Myosin_N. IPR002928. Myosin_tail. [Graphical view]
Pfam	PF00063. Myosin_head. 1 hit. PF02736. Myosin_N. 1 hit. PF01576. Myosin_tail_1. 1 hit. [Graphical view]
PRINTS	PR00193. MYOSINHEAVY.
SMART	SM00015. IQ. 2 hits. SM00242. MYSc. 1 hit. [Graphical view]
PROSITE	PS50096. IQ. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	MYH6. human.
GenomeRNAi	4624.
NextBio	17798.
SOURCE	Search...

Entry information

Entry name

MYH6_HUMAN

Accession

Primary (citable) accession number: P13533
Secondary accession number(s): A2RTX1 , Q13943, Q14906, Q14907

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 1, 1990
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 139 of the entry and version 5 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.