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Protein

Myosin-3

Gene

MYH3

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.

Caution

Represents a conventional myosin. This protein should not be confused with the unconventional myosin-3 (MYO3).Curated
Variants Ala-1622 and Val-1637 have been originally reported as DA2B pathogenic mutations (PubMed:16642020). These variants are now thought to be polymorphisms on the basis of additional family information and frequencies in large databases of control populations (PubMed:25957469).1 Publication1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ 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 bindingi179 – 186ATPSequence analysis8

<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

  • actin filament binding Source: BHF-UCL
  • ATPase activity, coupled Source: BHF-UCL
  • ATP binding Source: UniProtKB-KW
  • calmodulin binding Source: BHF-UCL
  • microfilament motor activity Source: BHF-UCL
  • myosin phosphatase activity Source: Reactome

GO - Biological processi

  • actin filament-based movement Source: UniProtKB
  • ATP metabolic process Source: BHF-UCL
  • embryonic limb morphogenesis Source: BHF-UCL
  • face morphogenesis Source: BHF-UCL
  • muscle filament sliding Source: Reactome
  • muscle organ development Source: ProtInc
  • sarcomere organization Source: BHF-UCL
  • skeletal muscle contraction Source: BHF-UCL

<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

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Reactomei
R-HSA-390522 Striated Muscle Contraction

SIGNOR Signaling Network Open Resource

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SIGNORi
P11055

<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-3
Alternative name(s):
Muscle embryonic myosin heavy chain
Myosin heavy chain 3
Myosin heavy chain, fast skeletal muscle, embryonic
SMHCE
<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:MYH3
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000109063.14

Human Gene Nomenclature Database

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HGNCi
HGNC:7573 MYH3

Online Mendelian Inheritance in Man (OMIM)

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MIMi
160720 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P11055

<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; 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

Arthrogryposis, distal, 2A (DA2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin.
See also OMIM:193700
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_030370178T → I in DA2A and DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913619EnsemblClinVar.1
Natural variantiVAR_030374498E → G in DA2A. 1 Publication1
Natural variantiVAR_030376583Y → S in DA2A. 1 Publication1
Natural variantiVAR_030377672R → C in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913618EnsemblClinVar.1
Natural variantiVAR_030378672R → H in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913617EnsemblClinVar.1
Natural variantiVAR_030380825V → D in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913620EnsemblClinVar.1
Arthrogryposis, distal, 2B (DA2B)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.
See also OMIM:601680
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030370178T → I in DA2A and DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913619EnsemblClinVar.1
Natural variantiVAR_030371261S → F in DA2B. 1 Publication1
Natural variantiVAR_030372292S → C in DA2B. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar.1
Natural variantiVAR_030373375E → K in DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar.1
Natural variantiVAR_030375517D → Y in DA2B. 1 Publication1
Natural variantiVAR_030379769G → V in DA2B. 1 Publication1
Natural variantiVAR_030381838K → E in DA2B. 1 Publication1
Natural variantiVAR_030382841Missing in DA2B. 1 Publication1
Arthrogryposis, distal, 8 (DA8)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease.
See also OMIM:178110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074668243Missing in DA8. 1 Publication1
Natural variantiVAR_0746691072N → NN in DA8. 1 Publication1
Natural variantiVAR_0746701075Q → P in DA8. 1 PublicationCorresponds to variant dbSNP:rs796051884EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4621

MalaCards human disease database

More...
MalaCardsi
MYH3
MIMi178110 phenotype
193700 phenotype
601680 phenotype

Open Targets

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OpenTargetsi
ENSG00000109063

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

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Orphaneti
65743 Autosomal dominant multiple pterygium syndrome
1146 Digitotalar dysmorphism
2053 Freeman-Sheldon syndrome
1147 Sheldon-Hall syndrome
3275 Spondylocarpotarsal synostosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31370

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MYH3

Domain mapping of disease mutations (DMDM)

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DMDMi
251757455

<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_00001233941 – 1940Myosin-3Add BLAST1940

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 residuei130N6,N6,N6-trimethyllysineSequence analysis1

Keywords - PTMi

Methylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P11055

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P11055

MaxQB - The MaxQuant DataBase

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MaxQBi
P11055

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

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PaxDbi
P11055

PeptideAtlas

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PeptideAtlasi
P11055

PRoteomics IDEntifications database

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PRIDEi
P11055

ProteomicsDB human proteome resource

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ProteomicsDBi
52691

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P11055

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

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PhosphoSitePlusi
P11055

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in fetal bone, thymus, placenta, heart, brain, and liver.1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Abundantly present in fetal skeletal muscle and not present or barely detectable in heart and adult skeletal muscle.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000109063 Expressed in 147 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

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CleanExi
HS_MYH3

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P11055 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA021808

<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)

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BioGridi
110706, 14 interactors

Protein interaction database and analysis system

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IntActi
P11055, 11 interactors

Molecular INTeraction database

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MINTi
P11055

STRING: functional protein association networks

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STRINGi
9606.ENSP00000226209

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P11055

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

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SMRi
P11055

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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>Domaini33 – 82Myosin N-terminal SH3-likePROSITE-ProRule annotationAdd BLAST50
Domaini86 – 779Myosin motorPROSITE-ProRule annotationAdd BLAST694
Domaini782 – 811IQPROSITE-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>Regioni656 – 678Actin-bindingAdd BLAST23
Regioni758 – 772Actin-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 coili840 – 1933Sequence analysisAdd BLAST1094

<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

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eggNOGi
KOG0161 Eukaryota
COG5022 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161575

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000173959

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004704

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P11055

KEGG Orthology (KO)

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KOi
K10352

Identification of Orthologs from Complete Genome Data

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OMAi
NIRAWCT

Database of Orthologous Groups

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OrthoDBi
47111at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P11055

TreeFam database of animal gene trees

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TreeFami
TF314375

Family and domain databases

Conserved Domains Database

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CDDi
cd14913 MYSc_Myh3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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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

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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
IPR036000 MYSc_Myh3
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

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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>.<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.

P11055-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSSDTEMEVF GIAAPFLRKS EKERIEAQNQ PFDAKTYCFV VDSKEEYAKG
60 70 80 90 100
KIKSSQDGKV TVETEDNRTL VVKPEDVYAM NPPKFDRIED MAMLTHLNEP
110 120 130 140 150
AVLYNLKDRY TSWMIYTYSG LFCVTVNPYK WLPVYNPEVV EGYRGKKRQE
160 170 180 190 200
APPHIFSISD NAYQFMLTDR ENQSILITGE SGAGKTVNTK RVIQYFATIA
210 220 230 240 250
ATGDLAKKKD SKMKGTLEDQ IISANPLLEA FGNAKTVRND NSSRFGKFIR
260 270 280 290 300
IHFGTTGKLA SADIETYLLE KSRVTFQLKA ERSYHIFYQI LSNKKPELIE
310 320 330 340 350
LLLITTNPYD YPFISQGEIL VASIDDAEEL LATDSAIDIL GFTPEEKSGL
360 370 380 390 400
YKLTGAVMHY GNMKFKQKQR EEQAEPDGTE VADKTAYLMG LNSSDLLKAL
410 420 430 440 450
CFPRVKVGNE YVTKGQTVDQ VHHAVNALSK SVYEKLFLWM VTRINQQLDT
460 470 480 490 500
KLPRQHFIGV LDIAGFEIFE YNSLEQLCIN FTNEKLQQFF NHHMFVLEQE
510 520 530 540 550
EYKKEGIEWT FIDFGMDLAA CIELIEKPMG IFSILEEECM FPKATDTSFK
560 570 580 590 600
NKLYDQHLGK SNNFQKPKVV KGRAEAHFSL IHYAGTVDYS VSGWLEKNKD
610 620 630 640 650
PLNETVVGLY QKSSNRLLAH LYATFATADA DSGKKKVAKK KGSSFQTVSA
660 670 680 690 700
LFRENLNKLM SNLRTTHPHF VRCIIPNETK TPGAMEHSLV LHQLRCNGVL
710 720 730 740 750
EGIRICRKGF PNRILYGDFK QRYRVLNASA IPEGQFIDSK KACEKLLASI
760 770 780 790 800
DIDHTQYKFG HTKVFFKAGL LGTLEEMRDD RLAKLITRTQ AVCRGFLMRV
810 820 830 840 850
EFQKMVQRRE SIFCIQYNIR SFMNVKHWPW MKLFFKIKPL LKSAETEKEM
860 870 880 890 900
ATMKEEFQKT KDELAKSEAK RKELEEKLVT LVQEKNDLQL QVQAESENLL
910 920 930 940 950
DAEERCDQLI KAKFQLEAKI KEVTERAEDE EEINAELTAK KRKLEDECSE
960 970 980 990 1000
LKKDIDDLEL TLAKVEKEKH ATENKVKNLT EELSGLDETI AKLTREKKAL
1010 1020 1030 1040 1050
QEAHQQALDD LQAEEDKVNS LNKTKSKLEQ QVEDLESSLE QEKKLRVDLE
1060 1070 1080 1090 1100
RNKRKLEGDL KLAQESILDL ENDKQQLDER LKKKDFEYCQ LQSKVEDEQT
1110 1120 1130 1140 1150
LGLQFQKKIK ELQARIEELE EEIEAERATR AKTEKQRSDY ARELEELSER
1160 1170 1180 1190 1200
LEEAGGVTST QIELNKKREA EFLKLRRDLE EATLQHEAMV AALRKKHADS
1210 1220 1230 1240 1250
VAELGEQIDN LQRVKQKLEK EKSEFKLEID DLSSSMESVS KSKANLEKIC
1260 1270 1280 1290 1300
RTLEDQLSEA RGKNEEIQRS LSELTTQKSR LQTEAGELSR QLEEKESIVS
1310 1320 1330 1340 1350
QLSRSKQAFT QQTEELKRQL EEENKAKNAL AHALQSSRHD CDLLREQYEE
1360 1370 1380 1390 1400
EQEGKAELQR ALSKANSEVA QWRTKYETDA IQRTEELEEA KKKLAQRLQD
1410 1420 1430 1440 1450
SEEQVEAVNA KCASLEKTKQ RLQGEVEDLM VDVERANSLA AALDKKQRNF
1460 1470 1480 1490 1500
DKVLAEWKTK CEESQAELEA SLKESRSLST ELFKLKNAYE EALDQLETVK
1510 1520 1530 1540 1550
RENKNLEQEI ADLTEQIAEN GKTIHELEKS RKQIELEKAD IQLALEEAEA
1560 1570 1580 1590 1600
ALEHEEAKIL RIQLELTQVK SEIDRKIAEK DEEIEQLKRN YQRTVETMQS
1610 1620 1630 1640 1650
ALDAEVRSRN EAIRLKKKME GDLNEIEIQL SHANRQAAET LKHLRSVQGQ
1660 1670 1680 1690 1700
LKDTQLHLDD ALRGQEDLKE QLAIVERRAN LLQAEVEELR ATLEQTERAR
1710 1720 1730 1740 1750
KLAEQELLDS NERVQLLHTQ NTSLIHTKKK LETDLMQLQS EVEDASRDAR
1760 1770 1780 1790 1800
NAEEKAKKAI TDAAMMAEEL KKEQDTSAHL ERMKKNLEQT VKDLQHRLDE
1810 1820 1830 1840 1850
AEQLALKGGK KQIQKLETRI RELEFELEGE QKKNTESVKG LRKYERRVKE
1860 1870 1880 1890 1900
LTYQSEEDRK NVLRLQDLVD KLQVKVKSYK RQAEEADEQA NAHLTKFRKA
1910 1920 1930 1940
QHELEEAEER ADIAESQVNK LRAKTRDFTS SRMVVHESEE
Length:1,940
Mass (Da):223,905
Last modified:July 7, 2009 - v3
<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:iB7D6AF219E88E5C8
GO

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 conflicti327A → R in CAA32167 (PubMed:2726495).Curated1
Sequence conflicti732P → L in CAA32167 (PubMed:2726495).Curated1
Sequence conflicti1331A → G in CAA35942 (PubMed:1691980).Curated1
Sequence conflicti1391 – 1392KK → QE in CAA32167 (PubMed:2726495).Curated2
Sequence conflicti1391 – 1392KK → QE in CAA31492 (PubMed:2806546).Curated2
Sequence conflicti1608 – 1609SR → RA in CAA35942 (PubMed:1691980).Curated2
Sequence conflicti1663 – 1664RG → QT in CAA31492 (PubMed:2806546).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030370178T → I in DA2A and DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913619EnsemblClinVar.1
Natural variantiVAR_074668243Missing in DA8. 1 Publication1
Natural variantiVAR_030371261S → F in DA2B. 1 Publication1
Natural variantiVAR_030372292S → C in DA2B. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar.1
Natural variantiVAR_030373375E → K in DA2B. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar.1
Natural variantiVAR_030374498E → G in DA2A. 1 Publication1
Natural variantiVAR_030375517D → Y in DA2B. 1 Publication1
Natural variantiVAR_030376583Y → S in DA2A. 1 Publication1
Natural variantiVAR_030377672R → C in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913618EnsemblClinVar.1
Natural variantiVAR_030378672R → H in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913617EnsemblClinVar.1
Natural variantiVAR_030379769G → V in DA2B. 1 Publication1
Natural variantiVAR_030380825V → D in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913620EnsemblClinVar.1
Natural variantiVAR_030381838K → E in DA2B. 1 Publication1
Natural variantiVAR_030382841Missing in DA2B. 1 Publication1
Natural variantiVAR_0561731003A → V. Corresponds to variant dbSNP:rs34088014EnsemblClinVar.1
Natural variantiVAR_0746691072N → NN in DA8. 1 Publication1
Natural variantiVAR_0746701075Q → P in DA8. 1 PublicationCorresponds to variant dbSNP:rs796051884EnsemblClinVar.1
Natural variantiVAR_0301961137R → C. Corresponds to variant dbSNP:rs12941197EnsemblClinVar.1
Natural variantiVAR_0301971192A → T4 PublicationsCorresponds to variant dbSNP:rs2285477EnsemblClinVar.1
Natural variantiVAR_0561741313T → I. Corresponds to variant dbSNP:rs35230241EnsemblClinVar.1
Natural variantiVAR_0303831622D → A Polymorphism; originally found in DA2B patients. 1 Publication1 PublicationCorresponds to variant dbSNP:rs1446303362Ensembl.1
Natural variantiVAR_0303841637A → V Polymorphism; originally found in DA2B patients. 1 Publication1 PublicationCorresponds to variant dbSNP:rs34165480EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X13988 mRNA Translation: CAA32167.1
AC002347 Genomic DNA No translation available.
X13100 mRNA Translation: CAA31492.1
X51593 mRNA Translation: CAA35942.1
X15696 mRNA Translation: CAA33731.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11157.1

Protein sequence database of the Protein Information Resource

More...
PIRi
S04090

NCBI Reference Sequences

More...
RefSeqi
NP_002461.2, NM_002470.3
XP_011522172.1, XM_011523870.2
XP_011522173.1, XM_011523871.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.440895

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000583535; ENSP00000464317; ENSG00000109063

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4621

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4621

UCSC genome browser

More...
UCSCi
uc002gmq.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
X13988 mRNA Translation: CAA32167.1
AC002347 Genomic DNA No translation available.
X13100 mRNA Translation: CAA31492.1
X51593 mRNA Translation: CAA35942.1
X15696 mRNA Translation: CAA33731.1
CCDSiCCDS11157.1
PIRiS04090
RefSeqiNP_002461.2, NM_002470.3
XP_011522172.1, XM_011523870.2
XP_011522173.1, XM_011523871.2
UniGeneiHs.440895

3D structure databases

ProteinModelPortaliP11055
SMRiP11055
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110706, 14 interactors
IntActiP11055, 11 interactors
MINTiP11055
STRINGi9606.ENSP00000226209

PTM databases

iPTMnetiP11055
PhosphoSitePlusiP11055

Polymorphism and mutation databases

BioMutaiMYH3
DMDMi251757455

Proteomic databases

EPDiP11055
jPOSTiP11055
MaxQBiP11055
PaxDbiP11055
PeptideAtlasiP11055
PRIDEiP11055
ProteomicsDBi52691

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4621
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000583535; ENSP00000464317; ENSG00000109063
GeneIDi4621
KEGGihsa:4621
UCSCiuc002gmq.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4621
DisGeNETi4621
EuPathDBiHostDB:ENSG00000109063.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MYH3

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0039137
HGNCiHGNC:7573 MYH3
HPAiHPA021808
MalaCardsiMYH3
MIMi160720 gene
178110 phenotype
193700 phenotype
601680 phenotype
neXtProtiNX_P11055
OpenTargetsiENSG00000109063
Orphaneti65743 Autosomal dominant multiple pterygium syndrome
1146 Digitotalar dysmorphism
2053 Freeman-Sheldon syndrome
1147 Sheldon-Hall syndrome
3275 Spondylocarpotarsal synostosis
PharmGKBiPA31370

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0161 Eukaryota
COG5022 LUCA
GeneTreeiENSGT00940000161575
HOGENOMiHOG000173959
HOVERGENiHBG004704
InParanoidiP11055
KOiK10352
OMAiNIRAWCT
OrthoDBi47111at2759
PhylomeDBiP11055
TreeFamiTF314375

Enzyme and pathway databases

ReactomeiR-HSA-390522 Striated Muscle Contraction
SIGNORiP11055

Miscellaneous databases

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

More...
ChiTaRSi
MYH3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MYH3

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

More...
GenomeRNAii
4621

Protein Ontology

More...
PROi
PR:P11055

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109063 Expressed in 147 organ(s), highest expression level in adrenal tissue
CleanExiHS_MYH3
GenevisibleiP11055 HS

Family and domain databases

CDDicd14913 MYSc_Myh3, 1 hit
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
IPR036000 MYSc_Myh3
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...

<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 nameiMYH3_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: P11055
Secondary accession number(s): Q15492
<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: July 1, 1989
Last sequence update: July 7, 2009
Last modified: January 16, 2019
This is version 183 of the entry and version 3 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 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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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