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MYH7 myosin, heavy chain 7, cardiac muscle, beta [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000257 Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. GenEZ ORF Cloning On-demand $2699.00 30
XM_005267697 PREDICTED: Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25

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Gene Symbol MYH7
Entrez Gene ID 4625
Full Name myosin, heavy chain 7, cardiac muscle, beta
Synonyms CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM
General protein information
Preferred Names
myosin-7
Names
myosin-7
myHC-beta
myhc-slow
myopathy, distal 1
myosin heavy chain 7
beta-myosin heavy chain
myosin heavy chain (AA 1-96)
myosin heavy chain slow isoform
rhabdomyosarcoma antigen MU-RMS-40.7A
myosin heavy chain, cardiac muscle beta isoform
myosin, heavy polypeptide 7, cardiac muscle, beta
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

14

14q12

Summary Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008].
Disorder

MIM: 160760

Cardiomyopathy, familial hypertrophic, 1, 192600 (3); Cardiomyopathy,

mRNA Protein Product Sequence Price Select
NM_000257, 657940851 NP_000248, 115496169 myosin-7 ORF Sequence $2500.00
XM_005267697, 578825827 XP_005267754, 530403850 myosin-7 isoform X2 ORF Sequence $1500.00
KEGG
hsa04530Tight junction
hsa05416Viral myocarditis
hsa04260Cardiac muscle contraction
hsa05414Dilated cardiomyopathy
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa04261Adrenergic signaling in cardiomyocytes
hsa04022cGMP-PKG signaling pathway
Reactome
REACT_11123Membrane Trafficking
REACT_147867Translocation of GLUT4 to the plasma membrane
Homo sapiens (human)MYH7NP_000248.2
Pan troglodytes (chimpanzee)MYH7XP_001150786.3
Canis lupus familiaris (dog)MYH7NP_001107183.1
Bos taurus (cattle)MYH7NP_777152.1
Mus musculus (house mouse)Myh7NP_542766.1
Rattus norvegicus (Norway rat)Myh7NP_058936.1
Gallus gallus (chicken)MYH7NP_001001302.1
Danio rerio (zebrafish)vmhcNP_001106204.1
Danio rerio (zebrafish)smyhc1NP_001018343.1
Danio rerio (zebrafish)smyhc3NP_001129995.1
Danio rerio (zebrafish)vmhclNP_001070932.2
Danio rerio (zebrafish)si:ch211-24n20.3XP_001923213.1
Danio rerio (zebrafish)smyhc2NP_001096096.2
Danio rerio (zebrafish)LOC100329670XP_002666777.2
Danio rerio (zebrafish)LOC100329748XP_002666778.1
Danio rerio (zebrafish)LOC567740XP_696132.3
Danio rerio (zebrafish)LOC100329813XP_002666779.1
Drosophila melanogaster (fruit fly)MhcNP_001246049.1
Xenopus (Silurana) tropicalis (western clawed frog)myh7XP_002939061.1
Process
IDNameEvidence
GO:0002026regulation of the force of heart contractionIDA
GO:0002027regulation of heart rateIDA
GO:0006200ATP catabolic processIDA
GO:0006936muscle contractionIDA
GO:0006936muscle contractionTAS
GO:0006941striated muscle contractionIDA
GO:0007512adult heart developmentIMP
GO:0030049muscle filament slidingIMP
GO:0055010ventricular cardiac muscle tissue morphogenesisIMP
Component
IDNameEvidence
GO:0001725stress fiberIEA
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005859muscle myosin complexTAS
GO:0005925focal adhesionIDA
GO:0016459myosin complexTAS
GO:0030017sarcomereTAS
GO:0030018Z discIEA
GO:0032982myosin filamentIDA
Function
IDNameEvidence
GO:0000146microfilament motor activityIDA
GO:0000146microfilament motor activityNAS
GO:0003779actin bindingIEA
GO:0005515protein bindingIPI
GO:0005516calmodulin bindingIEA
GO:0005524ATP bindingIEA
GO:0016887ATPase activityIDA
GO:0030898actin-dependent ATPase activityIMP
GeneCards MYH7
PDB 2FXM, 2FXO, 4P7H, 3DTP, 1IK2, 4DB1
UniProt P12883
Vega OTTHUMG00000028755
MIM 160760
Ensembl ENSG00000092054
HGNC 7577
HPRD 01175

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

What is the normal function of the MYH7 gene?

The MYH7 gene provides instructions for making a protein known as the cardiac beta (β)-myosin heavy chain. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. Type I fibers, which are also known as slow-twitch fibers, are one of two types of fibers that make up skeletal muscles. Type I fibers are the primary component of skeletal muscles that are resistant to fatigue. For example, muscles involved in posture, such as the neck muscles that hold the head steady, are made predominantly of type I fibers.

In cardiac and skeletal muscle cells, the β-myosin heavy chain forms part of a larger protein called type II myosin. Each type II myosin protein consists of two heavy chains (produced from the MYH7 gene) and two pairs of regulatory light chains (produced from several other genes). The heavy chains each have two parts: a head region and a tail region. The head region, called the motor domain, interacts with a thin filament protein called actin, which is important for cell movement and shape. The long tail region interacts with other proteins, including the tail regions of other myosin proteins.

Type II myosin generates the mechanical force that is needed for muscles to contract. It is integral to muscle cell structures called sarcomeres, which are the basic units of muscle contraction. Sarcomeres are composed of thick filaments made up of type II myosin and thin filaments made up of actin. The overlapping thick and thin filaments attach to each other and release, which allows the filaments to move relative to one another so that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the body. The coordinated contraction and relaxation of skeletal muscles allow the body to move.

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