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MYH3 myosin heavy chain 3 [ Homo sapiens (human) ]

Gene ID: 4621, updated on 7-Dec-2018

Summary

Official Symbol
MYH3provided by HGNC
Official Full Name
myosin heavy chain 3provided by HGNC
Primary source
HGNC:HGNC:7573
See related
Ensembl:ENSG00000109063 MIM:160720
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DA8; DA2A; DA2B; HEMHC; SMHCE; MYHSE1; MYHC-EMB
Summary
Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]
Expression
Biased expression in prostate (RPKM 18.9), esophagus (RPKM 4.8) and 5 other tissues See more
Orthologs

Genomic context

See MYH3 in Genome Data Viewer
Location:
17p13.1
Exon count:
43
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (10628526..10678347, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (10531843..10560626, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene myosin heavy chain gene cluster antisense RNA Neighboring gene myosin heavy chain 1 Neighboring gene myosin heavy chain 2 Neighboring gene SCO1, cytochrome c oxidase assembly protein Neighboring gene ADP-ribose/CDP-alcohol diphosphatase, manganese dependent Neighboring gene transmembrane protein 220 Neighboring gene mago homolog 2, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Distal arthrogryposis type 2B
MedGen: C1834523 OMIM: 601680 GeneReviews: Not available
Compare labs
Distal arthrogryposis type 8
MedGen: C1867440 OMIM: 178110 GeneReviews: Not available
Compare labs
Freeman-Sheldon syndrome
MedGen: C0265224 OMIM: 193700 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.
NHGRI GWA Catalog

Pathways from BioSystems

  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Muscle contraction, organism-specific biosystem (from REACTOME)
    Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
  • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
    Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
  • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
    Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Translocation of GLUT4 to the plasma membrane, organism-specific biosystem (from REACTOME)
    Translocation of GLUT4 to the plasma membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 (SLC2A4) glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity, coupled IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
calmodulin binding NAS
Non-traceable Author Statement
more info
PubMed 
microfilament motor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
microfilament motor activity NAS
Non-traceable Author Statement
more info
PubMed 
myosin phosphatase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
ATP metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
actin filament-based movement NAS
Non-traceable Author Statement
more info
PubMed 
embryonic limb morphogenesis IC
Inferred by Curator
more info
PubMed 
face morphogenesis IC
Inferred by Curator
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
protein dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
sarcomere organization NAS
Non-traceable Author Statement
more info
PubMed 
skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
muscle myosin complex NAS
Non-traceable Author Statement
more info
PubMed 
myosin filament IEA
Inferred from Electronic Annotation
more info
 
sarcomere NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
myosin-3
Names
myosin heavy chain, fast skeletal muscle, embryonic
myosin, heavy chain 3, skeletal muscle, embryonic
myosin, heavy polypeptide 3, skeletal muscle, embryonic
myosin, skeletal, heavy chain, embryonic 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011537.1 RefSeqGene

    Range
    4990..33773
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002470.4NP_002461.2  myosin-3

    See identical proteins and their annotated locations for NP_002461.2

    Status: REVIEWED

    Source sequence(s)
    AC002347, AY517555, BP232093, BP232269, BP233220, BP370003, BQ956249, BX500019, BY796597, CD614924, X13988
    Consensus CDS
    CCDS11157.1
    UniProtKB/Swiss-Prot
    P11055
    UniProtKB/TrEMBL
    Q5GJ67
    Related
    ENSP00000464317.1, ENST00000583535.5
    Conserved Domains (9) summary
    cd14913
    Location:100767
    MYSc_Myh3; class II myosin heavy chain 3, motor domain
    pfam00063
    Location:88767
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8471924
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3673
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam07851
    Location:17391850
    TMPIT; TMPIT-like protein
    cl00459
    Location:12961408
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl03075
    Location:843962
    GrpE; nucleotide exchange factor GrpE
    cl12013
    Location:9561063
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl19764
    Location:13731506
    COG6; Conserved oligomeric complex COG6

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    10628526..10678347 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523870.3XP_011522172.1  myosin-3 isoform X1

    See identical proteins and their annotated locations for XP_011522172.1

    UniProtKB/Swiss-Prot
    P11055
    Conserved Domains (9) summary
    cd14913
    Location:100767
    MYSc_Myh3; class II myosin heavy chain 3, motor domain
    pfam00063
    Location:88767
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8471924
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3673
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam07851
    Location:17391850
    TMPIT; TMPIT-like protein
    cl00459
    Location:12961408
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl03075
    Location:843962
    GrpE; nucleotide exchange factor GrpE
    cl12013
    Location:9561063
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl19764
    Location:13731506
    COG6; Conserved oligomeric complex COG6
  2. XM_011523871.2XP_011522173.1  myosin-3 isoform X1

    See identical proteins and their annotated locations for XP_011522173.1

    UniProtKB/Swiss-Prot
    P11055
    Conserved Domains (9) summary
    cd14913
    Location:100767
    MYSc_Myh3; class II myosin heavy chain 3, motor domain
    pfam00063
    Location:88767
    Myosin_head; Myosin head (motor domain)
    pfam01576
    Location:8471924
    Myosin_tail_1; Myosin tail
    pfam02736
    Location:3673
    Myosin_N; Myosin N-terminal SH3-like domain
    pfam07851
    Location:17391850
    TMPIT; TMPIT-like protein
    cl00459
    Location:12961408
    MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily
    cl03075
    Location:843962
    GrpE; nucleotide exchange factor GrpE
    cl12013
    Location:9561063
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl19764
    Location:13731506
    COG6; Conserved oligomeric complex COG6
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