MYH1 myosin, heavy chain 1, skeletal muscle, adult [Homo sapiens] - Gene

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Summary

Official Symbol: MYH1provided by HGNC
Official Full Name: myosin, heavy chain 1, skeletal muscle, adultprovided by HGNC
Primary source: HGNC:7567
See related: Ensembl:ENSG00000109061; HPRD:08872; MIM:160730; Vega:OTTHUMG00000130362
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: MYHa; MYHSA1; MyHC-2x; MyHC-2X/D; MGC133384
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. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 17p13.1

Sequence :: Chromosome: 17; NC_000017.10 (10395624..10421859, complement)

See MYH1 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

the expression levels of the MHC genes are associated with age and both PGC-1alpha and PGC-1beta and indicate that the MHC genes may to some extent be used to determine fibre-type composition in human skeletal muscle.
Title: The expression of myosin heavy chain (MHC) genes in human skeletal muscle is related to metabolic characteristics involved in the pathogenesis of type 2 diabetes.
we found a higher percentage of fibers expressing fast MyHC IIx in tetraplegic cerebral palsy
Title: Higher amount of MyHC IIX in a wrist flexor in tetraplegic compared to hemiplegic cerebral palsy.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Analysis of candidate genes in occurrence and growth of colorectal adenomas.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphisms in hMTH1, hOGG1 and hMYH and risk of chronic benzene poisoning in a Chinese occupational population.
Patients on hemodialysis demonstrate relatively fewer type 1 and consequently more type 2x fibres, with a corresponding change in MHC isoforms (MHC I and MHC IIX) in the skeletal muscle.
Title: Myosin heavy-chain isoform distribution, fibre-type composition and fibre size in skeletal muscle of patients on haemodialysis.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle.
Modular organization of phylogenetically conserved domains controlling developmental regulation of the human skeletal gene family
Title: Modular organization of phylogenetically conserved domains controlling developmental regulation of the human skeletal myosin heavy chain gene family.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
P12882	O95793	STAU1		HPRD	PubMed
BioGRID:110704	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
actin binding	IEA Inferred from Electronic Annotation more info
calmodulin binding	IEA Inferred from Electronic Annotation more info
motor activity	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
A band	IEA Inferred from Electronic Annotation more info
cytoplasm	IEA Inferred from Electronic Annotation more info
intercalated disc	IEA Inferred from Electronic Annotation more info
muscle myosin complex	IDA Inferred from Direct Assay more info	PubMed
myofibril	IEA Inferred from Electronic Annotation more info
myosin filament	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: myosin-1

Names: myosin-1; myHC-IIx/d; myosin heavy chain 1; myosin heavy chain 2x; myosin heavy chain IIx/d; myosin heavy chain, skeletal muscle, adult 1; myosin, heavy polypeptide 1, skeletal muscle, adult

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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.

mRNA and Protein(s)

NM_005963.3 → NP_005954.3 myosin-1

Status: REVIEWED

Source sequence(s)

AF111785, AJ573764, BC114545, DA826478

Consensus CDS

CCDS11155.1

UniProtKB/Swiss-Prot

P12882

Related

ENSP00000226207, OTTHUMP00000160893, ENST00000226207, OTTHUMT00000252725

Conserved Domains (5) summary

cd01377
Location:82 – 781
Blast Score: 3146

MYSc_type_II; Myosin motor domain, type II myosins. Myosin II mediates cortical contraction in cell motility, and is the motor in smooth and skeletal muscle. This catalytic (head) domain has ATPase activity and belongs to the larger group of P-loop NTPases. Myosins ...

pfam02736
Location:35 – 76
Blast Score: 158

Myosin_N; Myosin N-terminal SH3-like domain

pfam01576
Location:1089 – 1929
Blast Score: 2011

Myosin_tail_1; Myosin tail

smart00242
Location:81 – 782
Blast Score: 2514

MYSc; Myosin. Large ATPases.

TIGR04211
Location:974 – 1065
Blast Score: 113

SH3_and_anchor; SH3 domain protein

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

10395624..10421859, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

10295198..10321455, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005323.1 (84713..109044)	None
genomic	CH471108.2	EAW90005.1
genomic	CS025608.1	CAI61681.1
mRNA	AF111785.1	AAD29951.1
mRNA	AJ573764.1	None
mRNA	AK310004.1	None
mRNA	BC022376.2	AAH22376.1
mRNA	BC114545.1	AAI14546.1
mRNA	DA826478.1	None
mRNA	X03740.1	CAA27380.1