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

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; AllianceGenome:HGNC:7573
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; DA2B3; HEMHC; SMHCE; MYHSE1; CPSFS1A; CPSFS1B; CPSKF1A; CPSKF1B; 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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 17p13.1

Exon count:: 43

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (10628532..10678417, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (10536104..10585897, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (10531849..10560626, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
Title: Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).
METTL3 achieves lipopolysaccharide-induced myocardial injury via m[6]A-dependent stabilization of Myh3 mRNA.
Title: METTL3 achieves lipopolysaccharide-induced myocardial injury via m(6)A-dependent stabilization of Myh3 mRNA.
Recessive MYH3 variants cause ""Contractures, pterygia, and variable skeletal fusions syndrome 1B"" mimicking Escobar variant multiple pterygium syndrome.
Title: Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.
Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).
Title: Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Title: Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Report a case-control study investigating the role of MYH3 among non-syndromic atrial septal defect patients in contributing to septal development. The non-synonymous c. 3574G>A (p.Ala1192Thr) [p = 0.001, OR = 2.30 (1.36-3.87)] located within the tail domain indicated a highly conserved protein region.
Title: Mutations in the tail domain of MYH3 contributes to atrial septal defect.
two heterozygous variations of the MYH3 gene probably underlie the disease in the pedigrees
Title: [Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].
Our findings also support a role for MYH3 in both muscle and bone development, suggesting a phenotypic continuum in MYH3-related disorders.
Title: A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Although some MYH3 variants cause dominant Spondylocarpotarsal synostosis syndrome, these data indicate that others (notably truncating variants) do not, except in the context of compound heterozygosity for a second hypomorphic allele.
Title: Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
Title: A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Arthrogryposis, distal, type 2B3 MedGen: C5193098 OMIM: 618436 GeneReviews: Not available	Compare labs
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MedGen: C1867440 OMIM: 178110 GeneReviews: Not available	Compare labs
Contractures, pterygia, and variable skeletal fusions syndrome 1B MedGen: C5193114 OMIM: 618469 GeneReviews: Not available	Compare labs
Freeman-Sheldon syndrome MedGen: C0265224 OMIM: 193700 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Common variants in left/right asymmetry genes and pathways are associated with relative hand skill. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables actin filament binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin filament binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables calmodulin binding	NAS Non-traceable Author Statement more info	PubMed
enables microfilament motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables microfilament motor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables microfilament motor activity	NAS Non-traceable Author Statement more info	PubMed
enables myosin phosphatase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in ATP metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament-based movement	NAS Non-traceable Author Statement more info	PubMed
involved_in embryonic limb morphogenesis	IC Inferred by Curator more info	PubMed
involved_in face morphogenesis	IC Inferred by Curator more info	PubMed
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in muscle filament sliding	TAS Traceable Author Statement more info
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed
involved_in sarcomere organization	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
part_of muscle myosin complex	NAS Non-traceable Author Statement more info	PubMed
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myosin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcomere	NAS Non-traceable Author Statement more info	PubMed

General protein information

Go to the top of the page Help

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)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_011537.1 RefSeqGene

Range

4990..33767

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002470.4 → NP_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, Q15492

Related

ENSP00000464317.1, ENST00000583535.6

Conserved Domains (9) summary

cd14913
Location:100 → 767

MYSc_Myh3; class II myosin heavy chain 3, motor domain

pfam00063
Location:88 → 767

Myosin_head; Myosin head (motor domain)

pfam01576
Location:847 → 1924

Myosin_tail_1; Myosin tail

pfam02736
Location:36 → 73

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1739 → 1850

TMPIT; TMPIT-like protein

cl00459
Location:1296 → 1408

MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

cl03075
Location:843 → 962

GrpE; nucleotide exchange factor GrpE

cl12013
Location:956 → 1063

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl19764
Location:1373 → 1506

COG6; Conserved oligomeric complex COG6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

10628532..10678417 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523870.4 → XP_011522172.1 myosin-3 isoform X1

See identical proteins and their annotated locations for XP_011522172.1

UniProtKB/Swiss-Prot

P11055, Q15492

Conserved Domains (9) summary

cd14913
Location:100 → 767

MYSc_Myh3; class II myosin heavy chain 3, motor domain

pfam00063
Location:88 → 767

Myosin_head; Myosin head (motor domain)

pfam01576
Location:847 → 1924

Myosin_tail_1; Myosin tail

pfam02736
Location:36 → 73

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1739 → 1850

TMPIT; TMPIT-like protein

cl00459
Location:1296 → 1408

MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

cl03075
Location:843 → 962

GrpE; nucleotide exchange factor GrpE

cl12013
Location:956 → 1063

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl19764
Location:1373 → 1506

COG6; Conserved oligomeric complex COG6
XM_047436127.1 → XP_047292083.1 myosin-3 isoform X1

UniProtKB/Swiss-Prot

P11055, Q15492
XM_011523871.3 → XP_011522173.1 myosin-3 isoform X1

See identical proteins and their annotated locations for XP_011522173.1

UniProtKB/Swiss-Prot

P11055, Q15492

Conserved Domains (9) summary

cd14913
Location:100 → 767

MYSc_Myh3; class II myosin heavy chain 3, motor domain

pfam00063
Location:88 → 767

Myosin_head; Myosin head (motor domain)

pfam01576
Location:847 → 1924

Myosin_tail_1; Myosin tail

pfam02736
Location:36 → 73

Myosin_N; Myosin N-terminal SH3-like domain

pfam07851
Location:1739 → 1850

TMPIT; TMPIT-like protein

cl00459
Location:1296 → 1408

MIT_CorA-like; metal ion transporter CorA-like divalent cation transporter superfamily

cl03075
Location:843 → 962

GrpE; nucleotide exchange factor GrpE

cl12013
Location:956 → 1063

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

cl19764
Location:1373 → 1506

COG6; Conserved oligomeric complex COG6