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Entry version 205 (18 Sep 2019)
Sequence version 5 (11 Jan 2011)
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Protein

Myosin-6

Gene

MYH6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Muscle contraction.

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi178 – 185ATP8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActin-binding, Calmodulin-binding, Motor protein, Muscle protein, Myosin
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-390522 Striated Muscle Contraction

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P13533

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Myosin-6
Alternative name(s):
Myosin heavy chain 6
Myosin heavy chain, cardiac muscle alpha isoform
Short name:
MyHC-alpha
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MYH6
Synonyms:MYHCA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7576 MYH6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
160710 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P13533

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Thick filament

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Atrial septal defect 3 (ASD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031883820I → N in ASD3. 1 PublicationCorresponds to variant dbSNP:rs267606903EnsemblClinVar.1
Cardiomyopathy, familial hypertrophic 14 (CMH14)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031882795R → Q in CMH14; late onset. 1 PublicationCorresponds to variant dbSNP:rs267606907EnsemblClinVar.1
Natural variantiVAR_0635541065Q → H in CMH14. 1 PublicationCorresponds to variant dbSNP:rs267606904EnsemblClinVar.1
Cardiomyopathy, dilated 1EE (CMD1EE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063552830P → L in CMD1EE. 1 PublicationCorresponds to variant dbSNP:rs267606906EnsemblClinVar.1
Natural variantiVAR_0635531004A → S in CMD1EE. 1 PublicationCorresponds to variant dbSNP:rs143978652EnsemblClinVar.1
Natural variantiVAR_0635571457E → K in CMD1EE. 1 PublicationCorresponds to variant dbSNP:rs267606905EnsemblClinVar.1
Natural variantiVAR_0635581502R → Q in CMD1EE; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199936506EnsemblClinVar.1
Sick sinus syndrome 3 (SSS3)1 Publication
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
Disease descriptionThe 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065561721R → W in SSS3; rare variant predisposing to sick sinus syndrome. 1 PublicationCorresponds to variant dbSNP:rs387906656EnsemblClinVar.1

Keywords - Diseasei

Atrial septal defect, Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4624

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
MYH6

MalaCards human disease database

More...
MalaCardsi
MYH6
MIMi613251 phenotype
613252 phenotype
614089 phenotype
614090 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197616

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
99103 Atrial septal defect, ostium secundum type
154 Familial isolated dilated cardiomyopathy
166282 Familial sick sinus syndrome
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31373

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3831286

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MYH6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373582

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001234011 – 1939Myosin-6Add BLAST1939

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei129N6,N6,N6-trimethyllysineSequence analysis1
Modified residuei379PhosphothreonineBy similarity1
Modified residuei417PhosphoserineBy similarity1
Modified residuei1139PhosphoserineBy similarity1
Modified residuei1261PhosphotyrosineBy similarity1
Modified residuei1271PhosphoserineBy similarity1
Modified residuei1277PhosphothreonineBy similarity1
Modified residuei1284PhosphothreonineBy similarity1
Modified residuei1309PhosphoserineBy similarity1
Modified residuei1310PhosphotyrosineBy similarity1
Modified residuei1311PhosphothreonineBy similarity1
Modified residuei1512PhosphoserineBy similarity1
Modified residuei1515PhosphothreonineBy similarity1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P13533

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P13533

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P13533

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P13533

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P13533

PeptideAtlas

More...
PeptideAtlasi
P13533

PRoteomics IDEntifications database

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PRIDEi
P13533

ProteomicsDB human proteome resource

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ProteomicsDBi
52924

2D gel databases

University College Dublin 2-DE Proteome Database

More...
UCD-2DPAGEi
P13533

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P13533

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P13533

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000197616 Expressed in 105 organ(s), highest expression level in cardiac atrium

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P13533 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB075723
CAB075724
CAB075725
HPA001239
HPA001349

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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).

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110709, 43 interactors

Protein interaction database and analysis system

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IntActi
P13533, 29 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000386041

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
P13533

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini32 – 81Myosin N-terminal SH3-likePROSITE-ProRule annotationAdd BLAST50
Domaini85 – 780Myosin motorPROSITE-ProRule annotationAdd BLAST696
Domaini783 – 812IQPROSITE-ProRule annotationAdd BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni657 – 679Actin-bindingAdd BLAST23
Regioni759 – 773Actin-bindingAdd BLAST15

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili842 – 1939Sequence analysisAdd BLAST1098

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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.
Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).Curated

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0161 Eukaryota
COG5022 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154805

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000173959

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P13533

KEGG Orthology (KO)

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KOi
K17751

Identification of Orthologs from Complete Genome Data

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OMAi
QREEGRM

Database of Orthologous Groups

More...
OrthoDBi
614199at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P13533

TreeFam database of animal gene trees

More...
TreeFami
TF314375

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.30.30.360, 1 hit
3.40.850.10, 1 hit
4.10.270.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR027401 Myosin_IQ_contain_sf
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR002928 Myosin_tail
IPR027417 P-loop_NTPase

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00063 Myosin_head, 1 hit
PF02736 Myosin_N, 1 hit
PF01576 Myosin_tail_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00193 MYOSINHEAVY

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00242 MYSc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50096 IQ, 1 hit
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P13533-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTDAQMADFG AAAQYLRKSE KERLEAQTRP FDIRTECFVP DDKEEFVKAK
60 70 80 90 100
ILSREGGKVI AETENGKTVT VKEDQVLQQN PPKFDKIEDM AMLTFLHEPA
110 120 130 140 150
VLFNLKERYA AWMIYTYSGL FCVTVNPYKW LPVYNAEVVA AYRGKKRSEA
160 170 180 190 200
PPHIFSISDN AYQYMLTDRE NQSILITGES GAGKTVNTKR VIQYFASIAA
210 220 230 240 250
IGDRGKKDNA NANKGTLEDQ IIQANPALEA FGNAKTVRND NSSRFGKFIR
260 270 280 290 300
IHFGATGKLA SADIETYLLE KSRVIFQLKA ERNYHIFYQI LSNKKPELLD
310 320 330 340 350
MLLVTNNPYD YAFVSQGEVS VASIDDSEEL MATDSAFDVL GFTSEEKAGV
360 370 380 390 400
YKLTGAIMHY GNMKFKQKQR EEQAEPDGTE DADKSAYLMG LNSADLLKGL
410 420 430 440 450
CHPRVKVGNE YVTKGQSVQQ VYYSIGALAK AVYEKMFNWM VTRINATLET
460 470 480 490 500
KQPRQYFIGV LDIAGFEIFD FNSFEQLCIN FTNEKLQQFF NHHMFVLEQE
510 520 530 540 550
EYKKEGIEWT FIDFGMDLQA CIDLIEKPMG IMSILEEECM FPKATDMTFK
560 570 580 590 600
AKLYDNHLGK SNNFQKPRNI KGKQEAHFSL IHYAGTVDYN ILGWLEKNKD
610 620 630 640 650
PLNETVVALY QKSSLKLMAT LFSSYATADT GDSGKSKGGK KKGSSFQTVS
660 670 680 690 700
ALHRENLNKL MTNLRTTHPH FVRCIIPNER KAPGVMDNPL VMHQLRCNGV
710 720 730 740 750
LEGIRICRKG FPNRILYGDF RQRYRILNPV AIPEGQFIDS RKGTEKLLSS
760 770 780 790 800
LDIDHNQYKF GHTKVFFKAG LLGLLEEMRD ERLSRIITRM QAQARGQLMR
810 820 830 840 850
IEFKKIVERR DALLVIQWNI RAFMGVKNWP WMKLYFKIKP LLKSAETEKE
860 870 880 890 900
MATMKEEFGR IKETLEKSEA RRKELEEKMV SLLQEKNDLQ LQVQAEQDNL
910 920 930 940 950
NDAEERCDQL IKNKIQLEAK VKEMNERLED EEEMNAELTA KKRKLEDECS
960 970 980 990 1000
ELKKDIDDLE LTLAKVEKEK HATENKVKNL TEEMAGLDEI IAKLTKEKKA
1010 1020 1030 1040 1050
LQEAHQQALD DLQVEEDKVN SLSKSKVKLE QQVDDLEGSL EQEKKVRMDL
1060 1070 1080 1090 1100
ERAKRKLEGD LKLTQESIMD LENDKLQLEE KLKKKEFDIN QQNSKIEDEQ
1110 1120 1130 1140 1150
VLALQLQKKL KENQARIEEL EEELEAERTA RAKVEKLRSD LSRELEEISE
1160 1170 1180 1190 1200
RLEEAGGATS VQIEMNKKRE AEFQKMRRDL EEATLQHEAT AAALRKKHAD
1210 1220 1230 1240 1250
SVAELGEQID NLQRVKQKLE KEKSEFKLEL DDVTSNMEQI IKAKANLEKV
1260 1270 1280 1290 1300
SRTLEDQANE YRVKLEEAQR SLNDFTTQRA KLQTENGELA RQLEEKEALI
1310 1320 1330 1340 1350
SQLTRGKLSY TQQMEDLKRQ LEEEGKAKNA LAHALQSARH DCDLLREQYE
1360 1370 1380 1390 1400
EETEAKAELQ RVLSKANSEV AQWRTKYETD AIQRTEELEE AKKKLAQRLQ
1410 1420 1430 1440 1450
DAEEAVEAVN AKCSSLEKTK HRLQNEIEDL MVDVERSNAA AAALDKKQRN
1460 1470 1480 1490 1500
FDKILAEWKQ KYEESQSELE SSQKEARSLS TELFKLKNAY EESLEHLETF
1510 1520 1530 1540 1550
KRENKNLQEE ISDLTEQLGE GGKNVHELEK VRKQLEVEKL ELQSALEEAE
1560 1570 1580 1590 1600
ASLEHEEGKI LRAQLEFNQI KAEIERKLAE KDEEMEQAKR NHQRVVDSLQ
1610 1620 1630 1640 1650
TSLDAETRSR NEVLRVKKKM EGDLNEMEIQ LSHANRMAAE AQKQVKSLQS
1660 1670 1680 1690 1700
LLKDTQIQLD DAVRANDDLK ENIAIVERRN NLLQAELEEL RAVVEQTERS
1710 1720 1730 1740 1750
RKLAEQELIE TSERVQLLHS QNTSLINQKK KMESDLTQLQ SEVEEAVQEC
1760 1770 1780 1790 1800
RNAEEKAKKA ITDAAMMAEE LKKEQDTSAH LERMKKNMEQ TIKDLQHRLD
1810 1820 1830 1840 1850
EAEQIALKGG KKQLQKLEAR VRELEGELEA EQKRNAESVK GMRKSERRIK
1860 1870 1880 1890 1900
ELTYQTEEDK KNLLRLQDLV DKLQLKVKAY KRQAEEAEEQ ANTNLSKFRK
1910 1920 1930
VQHELDEAEE RADIAESQVN KLRAKSRDIG AKQKMHDEE
Length:1,939
Mass (Da):223,735
Last modified:January 11, 2011 - v5
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i424211CC048C8004
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti4A → S in CAA29120 (PubMed:3037493).Curated1
Sequence conflicti11 – 12AA → T in CAA29120 (PubMed:3037493).Curated2
Sequence conflicti574Q → P in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti608A → G in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti744T → A in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti790M → I in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1014V → A in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1021S → T in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1290A → S in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1373W → C in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1533K → N in AAA36344 (PubMed:2969919).Curated1
Sequence conflicti1540L → M in AAA36344 (PubMed:2969919).Curated1
Sequence conflicti1577 – 1578KL → NV in AAA36344 (PubMed:2969919).Curated2
Sequence conflicti1705 – 1706EQ → DR in BAA00791 (PubMed:1776652).Curated2
Sequence conflicti1705 – 1706EQ → DR in AAA60387 (PubMed:2726733).Curated2
Sequence conflicti1733E → D in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1733E → D in AAA36344 (PubMed:2969919).Curated1
Sequence conflicti1734S → A in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1734S → A in AAA60387 (PubMed:2726733).Curated1
Sequence conflicti1734S → A in AAA36344 (PubMed:2969919).Curated1
Sequence conflicti1763D → H in BAA00791 (PubMed:1776652).Curated1
Sequence conflicti1788M → I in AAA60387 (PubMed:2726733).Curated1
Sequence conflicti1871D → N in AAA36344 (PubMed:2969919).Curated1
Sequence conflicti1882R → G in AAA36344 (PubMed:2969919).Curated1
Sequence conflicti1890Q → R in AAA36344 (PubMed:2969919).Curated1
Sequence conflicti1933Missing in AAA36344 (PubMed:2969919).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06355056G → R1 PublicationCorresponds to variant dbSNP:rs28711516EnsemblClinVar.1
Natural variantiVAR_03020388E → Q2 PublicationsCorresponds to variant dbSNP:rs442275Ensembl.1
Natural variantiVAR_063551275I → N1 PublicationCorresponds to variant dbSNP:rs201327273EnsemblClinVar.1
Natural variantiVAR_065561721R → W in SSS3; rare variant predisposing to sick sinus syndrome. 1 PublicationCorresponds to variant dbSNP:rs387906656EnsemblClinVar.1
Natural variantiVAR_030204783L → M. Corresponds to variant dbSNP:rs11847151Ensembl.1
Natural variantiVAR_031882795R → Q in CMH14; late onset. 1 PublicationCorresponds to variant dbSNP:rs267606907EnsemblClinVar.1
Natural variantiVAR_031883820I → N in ASD3. 1 PublicationCorresponds to variant dbSNP:rs267606903EnsemblClinVar.1
Natural variantiVAR_063552830P → L in CMD1EE. 1 PublicationCorresponds to variant dbSNP:rs267606906EnsemblClinVar.1
Natural variantiVAR_0635531004A → S in CMD1EE. 1 PublicationCorresponds to variant dbSNP:rs143978652EnsemblClinVar.1
Natural variantiVAR_0635541065Q → H in CMH14. 1 PublicationCorresponds to variant dbSNP:rs267606904EnsemblClinVar.1
Natural variantiVAR_0302051101V → A1 PublicationCorresponds to variant dbSNP:rs365990EnsemblClinVar.1
Natural variantiVAR_0635551130A → T1 PublicationCorresponds to variant dbSNP:rs28730771EnsemblClinVar.1
Natural variantiVAR_0635561295E → Q1 PublicationCorresponds to variant dbSNP:rs34935550EnsemblClinVar.1
Natural variantiVAR_0635571457E → K in CMD1EE. 1 PublicationCorresponds to variant dbSNP:rs267606905EnsemblClinVar.1
Natural variantiVAR_0635581502R → Q in CMD1EE; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199936506EnsemblClinVar.1
Natural variantiVAR_0613641593Q → L. Corresponds to variant dbSNP:rs45574136EnsemblClinVar.1
Natural variantiVAR_0302061737T → S1 PublicationCorresponds to variant dbSNP:rs1059854Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS9600.1

Protein sequence database of the Protein Information Resource

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PIRi
A46762

NCBI Reference Sequences

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RefSeqi
NP_002462.2, NM_002471.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000405093; ENSP00000386041; ENSG00000197616

Database of genes from NCBI RefSeq genomes

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GeneIDi
4624

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4624

UCSC genome browser

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UCSCi
uc001wjv.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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

3D structure databases

SMRiP13533
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110709, 43 interactors
IntActiP13533, 29 interactors
STRINGi9606.ENSP00000386041

Chemistry databases

ChEMBLiCHEMBL3831286

PTM databases

iPTMnetiP13533
PhosphoSitePlusiP13533

Polymorphism and mutation databases

BioMutaiMYH6
DMDMi317373582

2D gel databases

UCD-2DPAGEiP13533

Proteomic databases

EPDiP13533
jPOSTiP13533
MassIVEiP13533
MaxQBiP13533
PaxDbiP13533
PeptideAtlasiP13533
PRIDEiP13533
ProteomicsDBi52924

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...
ABCDi
P13533
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000405093; ENSP00000386041; ENSG00000197616
GeneIDi4624
KEGGihsa:4624
UCSCiuc001wjv.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4624
DisGeNETi4624

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MYH6
GeneReviewsiMYH6
HGNCiHGNC:7576 MYH6
HPAiCAB075723
CAB075724
CAB075725
HPA001239
HPA001349
MalaCardsiMYH6
MIMi160710 gene
613251 phenotype
613252 phenotype
614089 phenotype
614090 phenotype
neXtProtiNX_P13533
OpenTargetsiENSG00000197616
Orphaneti99103 Atrial septal defect, ostium secundum type
154 Familial isolated dilated cardiomyopathy
166282 Familial sick sinus syndrome
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
PharmGKBiPA31373

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0161 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00940000154805
HOGENOMiHOG000173959
InParanoidiP13533
KOiK17751
OMAiQREEGRM
OrthoDBi614199at2759
PhylomeDBiP13533
TreeFamiTF314375

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP13533

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
MYH6 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MYH6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
4624

Pharos

More...
Pharosi
P13533

Protein Ontology

More...
PROi
PR:P13533

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197616 Expressed in 105 organ(s), highest expression level in cardiac atrium
GenevisibleiP13533 HS

Family and domain databases

Gene3Di2.30.30.360, 1 hit
3.40.850.10, 1 hit
4.10.270.10, 1 hit
InterProiView protein in InterPro
IPR000048 IQ_motif_EF-hand-BS
IPR036961 Kinesin_motor_dom_sf
IPR001609 Myosin_head_motor_dom
IPR027401 Myosin_IQ_contain_sf
IPR004009 Myosin_N
IPR008989 Myosin_S1_N
IPR002928 Myosin_tail
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00063 Myosin_head, 1 hit
PF02736 Myosin_N, 1 hit
PF01576 Myosin_tail_1, 1 hit
PRINTSiPR00193 MYOSINHEAVY
SMARTiView protein in SMART
SM00242 MYSc, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 1 hit
PS51456 MYOSIN_MOTOR, 1 hit
PS51844 SH3_LIKE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMYH6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P13533
Secondary accession number(s): A2RTX1
, D9YZU2, Q13943, Q14906, Q14907
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: January 11, 2011
Last modified: September 18, 2019
This is version 205 of the entry and version 5 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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