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UniProtKB - P11055 (MYH3_HUMAN)

Entry version 199 (07 Apr 2021)
Sequence version 3 (07 Jul 2009)
Previous versions | rss
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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 transcript 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 DA2B3 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 <a href="http://www.uniprot.org/help/function%5Fsection">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 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 Source: BHF-UCL
  • ATP binding Source: UniProtKB-KW
  • calmodulin binding Source: BHF-UCL
  • microfilament motor activity Source: BHF-UCL
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P11055

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:7573, MYH3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		160720, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P11055

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000109063.14

<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

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)2 Publications
The disease is caused by variants 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 a H-shaped dimple of the chin.
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_030370178T → I in DA2A and DA2B3. 2 PublicationsCorresponds 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, 2B3 (DA2B3)2 Publications
The disease is caused by variants 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. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030370178T → I in DA2A and DA2B3. 2 PublicationsCorresponds to variant dbSNP:rs121913619EnsemblClinVar.1
Natural variantiVAR_082275234A → T in DA2B3. 1 PublicationCorresponds to variant dbSNP:rs121913623EnsemblClinVar.1
Natural variantiVAR_030371261S → F in DA2B3. 1 Publication1
Natural variantiVAR_030372292S → C in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar.1
Natural variantiVAR_030373375E → K in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar.1
Natural variantiVAR_082278462D → G in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913622EnsemblClinVar.1
Natural variantiVAR_030375517D → Y in DA2B3; unknown pathological significance. 1 Publication1
Natural variantiVAR_030379769G → V in DA2B3. 1 Publication1
Natural variantiVAR_030381838K → E in DA2B3. 1 Publication1
Natural variantiVAR_030382841Missing in DA2B3. 1 Publication1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074668243Missing in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1555527166Ensembl.1
Natural variantiVAR_082276287F → V in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567560080EnsemblClinVar.1
Natural variantiVAR_082277333T → R in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567559562EnsemblClinVar.1
Natural variantiVAR_0746691072N → NN in CPSFS1A. 1 Publication1
Natural variantiVAR_0746701075Q → P in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs796051884EnsemblClinVar.1
Natural variantiVAR_0822791344L → P in CPSFS1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567553806EnsemblClinVar.1
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08227447 – 1940Missing in CPSFS1B. 1 PublicationAdd BLAST1894

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		4621

MalaCards human disease database

More...MalaCardsi		MYH3
MIMi178110, phenotype
193700, phenotype
618436, phenotype
618469, phenotype

Open Targets

More...OpenTargetsi		ENSG00000109063

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

More...Orphaneti		65743, Autosomal dominant multiple pterygium syndrome
2990, Autosomal recessive multiple pterygium syndrome
1146, Distal arthrogryposis type 1
2053, Freeman-Sheldon syndrome
1147, Sheldon-Hall syndrome
3275, Spondylocarpotarsal synostosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31370

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P11055, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MYH3

Domain mapping of disease mutations (DMDM)

More...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 or proteolytic cleavage.<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

More...EPDi		P11055

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P11055

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P11055

MaxQB - The MaxQuant DataBase

More...MaxQBi		P11055

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

More...PaxDbi		P11055

PeptideAtlas

More...PeptideAtlasi		P11055

PRoteomics IDEntifications database

More...PRIDEi		P11055

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52691

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P11055

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

More...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

More...Bgeei		ENSG00000109063, Expressed in colon and 162 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P11055, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000109063, Tissue enhanced (esophagus, prostate, skeletal muscle)

<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%5Fsection">'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%5Fsection">'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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110706, 28 interactors

Protein interaction database and analysis system

More...IntActi		P11055, 17 interactors

Molecular INTeraction database

More...MINTi		P11055

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000464317

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P11055, protein

<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		P11055

Database of comparative protein structure models

More...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%5Fand%5Fdomains%5Fsection">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

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0161, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161575

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000192_8_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P11055

Identification of Orthologs from Complete Genome Data

More...OMAi		SRQMEER

Database of Orthologous Groups

More...OrthoDBi		47111at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P11055

TreeFam database of animal gene trees

More...TreeFami		TF314375

Family and domain databases

Conserved Domains Database

More...CDDi		cd14913, MYSc_Myh3, 1 hit

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
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

More...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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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_08227447 – 1940Missing in CPSFS1B. 1 PublicationAdd BLAST1894
Natural variantiVAR_030370178T → I in DA2A and DA2B3. 2 PublicationsCorresponds to variant dbSNP:rs121913619EnsemblClinVar.1
Natural variantiVAR_082275234A → T in DA2B3. 1 PublicationCorresponds to variant dbSNP:rs121913623EnsemblClinVar.1
Natural variantiVAR_074668243Missing in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1555527166Ensembl.1
Natural variantiVAR_030371261S → F in DA2B3. 1 Publication1
Natural variantiVAR_082276287F → V in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567560080EnsemblClinVar.1
Natural variantiVAR_030372292S → C in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs139480342EnsemblClinVar.1
Natural variantiVAR_082277333T → R in CPSFS1A. 1 PublicationCorresponds to variant dbSNP:rs1567559562EnsemblClinVar.1
Natural variantiVAR_030373375E → K in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913621EnsemblClinVar.1
Natural variantiVAR_082278462D → G in DA2B3; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121913622EnsemblClinVar.1
Natural variantiVAR_030374498E → G in DA2A. 1 Publication1
Natural variantiVAR_030375517D → Y in DA2B3; unknown pathological significance. 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 DA2B3. 1 Publication1
Natural variantiVAR_030380825V → D in DA2A. 1 PublicationCorresponds to variant dbSNP:rs121913620EnsemblClinVar.1
Natural variantiVAR_030381838K → E in DA2B3. 1 Publication1
Natural variantiVAR_030382841Missing in DA2B3. 1 Publication1
Natural variantiVAR_0561731003A → V. Corresponds to variant dbSNP:rs34088014EnsemblClinVar.1
Natural variantiVAR_0746691072N → NN in CPSFS1A. 1 Publication1
Natural variantiVAR_0746701075Q → P in CPSFS1A. 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_0822791344L → P in CPSFS1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567553806EnsemblClinVar.1
Natural variantiVAR_0303831622D → A Originally found in DA2B3 patients. 1 Publication1 PublicationCorresponds to variant dbSNP:rs1446303362Ensembl.1
Natural variantiVAR_0303841637A → V Originally found in DA2B3 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

More...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

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

<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

3D structure databases

SMRiP11055
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi110706, 28 interactors
IntActiP11055, 17 interactors
MINTiP11055
STRINGi9606.ENSP00000464317

PTM databases

iPTMnetiP11055
PhosphoSitePlusiP11055

Genetic variation databases

BioMutaiMYH3
DMDMi251757455

Proteomic databases

EPDiP11055
jPOSTiP11055
MassIVEiP11055
MaxQBiP11055
PaxDbiP11055
PeptideAtlasiP11055
PRIDEiP11055
ProteomicsDBi52691

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		12917, 110 antibodies

The DNASU plasmid repository

More...DNASUi		4621

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4621
DisGeNETi4621

GeneCards: human genes, protein and diseases

More...GeneCardsi		MYH3
HGNCiHGNC:7573, MYH3
HPAiENSG00000109063, Tissue enhanced (esophagus, prostate, skeletal muscle)
MalaCardsiMYH3
MIMi160720, gene
178110, phenotype
193700, phenotype
618436, phenotype
618469, phenotype
neXtProtiNX_P11055
OpenTargetsiENSG00000109063
Orphaneti65743, Autosomal dominant multiple pterygium syndrome
2990, Autosomal recessive multiple pterygium syndrome
1146, Distal arthrogryposis type 1
2053, Freeman-Sheldon syndrome
1147, Sheldon-Hall syndrome
3275, Spondylocarpotarsal synostosis
PharmGKBiPA31370
VEuPathDBiHostDB:ENSG00000109063.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0161, Eukaryota
GeneTreeiENSGT00940000161575
HOGENOMiCLU_000192_8_0_1
InParanoidiP11055
OMAiSRQMEER
OrthoDBi47111at2759
PhylomeDBiP11055
TreeFamiTF314375

Enzyme and pathway databases

PathwayCommonsiP11055
ReactomeiR-HSA-390522, Striated Muscle Contraction
SIGNORiP11055

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4621, 5 hits in 986 CRISPR screens

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
PharosiP11055, Tbio

Protein Ontology

More...PROi		PR:P11055
RNActiP11055, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000109063, Expressed in colon and 162 other tissues
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...

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 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%5Fand%5Fisoforms">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: April 7, 2021
This is version 199 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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