MYH7

Protein identityUniProt · HPA

UniProt accession

P12883

Gene

MYH7

Ensembl

ENSG00000092054

Chromosome

14

Canonical length

1935 aa

Protein class

Candidate cardiovascular disease genes, Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Focal adhesion sites

OverviewNCBI Gene

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 distal myopathy. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

1935 residues, UniProt reviewed canonical sequence.

>P12883|MYH7
     1  MGDSEMAVFG AAAPYLRKSE KERLEAQTRP FDLKKDVFVP DDKQEFVKAK IVSREGGKVT
    61  AETEYGKTVT VKEDQVMQQN PPKFDKIEDM AMLTFLHEPA VLYNLKDRYG SWMIYTYSGL
   121  FCVTVNPYKW LPVYTPEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES
   181  GAGKTVNTKR VIQYFAVIAA IGDRSKKDQS PGKGTLEDQI IQANPALEAF GNAKTVRNDN
   241  SSRFGKFIRI HFGATGKLAS ADIETYLLEK SRVIFQLKAE RDYHIFYQIL SNKKPELLDM
   301  LLITNNPYDY AFISQGETTV ASIDDAEELM ATDNAFDVLG FTSEEKNSMY KLTGAIMHFG
   361  NMKFKLKQRE EQAEPDGTEE ADKSAYLMGL NSADLLKGLC HPRVKVGNEY VTKGQNVQQV
   421  IYATGALAKA VYERMFNWMV TRINATLETK QPRQYFIGVL DIAGFEIFDF NSFEQLCINF
   481  TNEKLQQFFN HHMFVLEQEE YKKEGIEWTF IDFGMDLQAC IDLIEKPMGI MSILEEECMF
   541  PKATDMTFKA KLFDNHLGKS ANFQKPRNIK GKPEAHFSLI HYAGIVDYNI IGWLQKNKDP
   601  LNETVVGLYQ KSSLKLLSTL FANYAGADAP IEKGKGKAKK GSSFQTVSAL HRENLNKLMT
   661  NLRSTHPHFV RCIIPNETKS PGVMDNPLVM HQLRCNGVLE GIRICRKGFP NRILYGDFRQ
   721  RYRILNPAAI PEGQFIDSRK GAEKLLSSLD IDHNQYKFGH TKVFFKAGLL GLLEEMRDER
   781  LSRIITRIQA QSRGVLARME YKKLLERRDS LLVIQWNIRA FMGVKNWPWM KLYFKIKPLL
   841  KSAEREKEMA SMKEEFTRLK EALEKSEARR KELEEKMVSL LQEKNDLQLQ VQAEQDNLAD
   901  AEERCDQLIK NKIQLEAKVK EMNERLEDEE EMNAELTAKK RKLEDECSEL KRDIDDLELT
   961  LAKVEKEKHA TENKVKNLTE EMAGLDEIIA KLTKEKKALQ EAHQQALDDL QAEEDKVNTL
  1021  TKAKVKLEQQ VDDLEGSLEQ EKKVRMDLER AKRKLEGDLK LTQESIMDLE NDKQQLDERL
  1081  KKKDFELNAL NARIEDEQAL GSQLQKKLKE LQARIEELEE ELEAERTARA KVEKLRSDLS
  1141  RELEEISERL EEAGGATSVQ IEMNKKREAE FQKMRRDLEE ATLQHEATAA ALRKKHADSV
  1201  AELGEQIDNL QRVKQKLEKE KSEFKLELDD VTSNMEQIIK AKANLEKMCR TLEDQMNEHR
  1261  SKAEETQRSV NDLTSQRAKL QTENGELSRQ LDEKEALISQ LTRGKLTYTQ QLEDLKRQLE
  1321  EEVKAKNALA HALQSARHDC DLLREQYEEE TEAKAELQRV LSKANSEVAQ WRTKYETDAI
  1381  QRTEELEEAK KKLAQRLQEA EEAVEAVNAK CSSLEKTKHR LQNEIEDLMV DVERSNAAAA
  1441  ALDKKQRNFD KILAEWKQKY EESQSELESS QKEARSLSTE LFKLKNAYEE SLEHLETFKR
  1501  ENKNLQEEIS DLTEQLGSSG KTIHELEKVR KQLEAEKMEL QSALEEAEAS LEHEEGKILR
  1561  AQLEFNQIKA EIERKLAEKD EEMEQAKRNH LRVVDSLQTS LDAETRSRNE ALRVKKKMEG
  1621  DLNEMEIQLS HANRMAAEAQ KQVKSLQSLL KDTQIQLDDA VRANDDLKEN IAIVERRNNL
  1681  LQAELEELRA VVEQTERSRK LAEQELIETS ERVQLLHSQN TSLINQKKKM DADLSQLQTE
  1741  VEEAVQECRN AEEKAKKAIT DAAMMAEELK KEQDTSAHLE RMKKNMEQTI KDLQHRLDEA
  1801  EQIALKGGKK QLQKLEARVR ELENELEAEQ KRNAESVKGM RKSERRIKEL TYQTEEDRKN
  1861  LLRLQDLVDK LQLKVKAYKR QAEEAEEQAN TNLSKFRKVQ HELDEAEERA DIAESQVNKL
  1921  RAKSRDIGTK GLNEE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYH7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.39

Highest tissue expression

13,633 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYH7.

Disease | AllUniProt

Conditions MYH7 is implicated in, by any mechanism.

• Cardiomyopathy, familial hypertrophic, 1 (CMH1) MIM:192600
• Congenital myopathy 7A, myosin storage, autosomal dominant (CMYO7A) MIM:608358
• Cardiomyopathy, dilated, 1S (CMD1S) MIM:613426
• Myopathy, distal, 1 (MPD1) MIM:160500
• Congenital myopathy 7B, myosin storage, autosomal recessive (CMYO7B) MIM:255160
• Left ventricular non-compaction 5 (LVNC5) MIM:613426

Disease | GeneticClinVar

432 pathogenic / likely-pathogenic of 5,804 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypertrophic cardiomyopathy
• Hypertrophic cardiomyopathy 1
• Cardiovascular phenotype
• Cardiomyopathy
• Dilated cardiomyopathy 1S

Disease | ImmuneIEDB

Conditions an epitope on MYH7 was assayed in.

• rheumatic myocarditis T cell
• Chagas disease B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.57

gnomAD pLI

0

gnomAD missense Z

3.93

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adult heart development
• ATP metabolic process
• cardiac muscle contraction
• cardiac muscle hypertrophy in response to stress
• muscle contraction
• muscle filament sliding
• regulation of heart rate
• regulation of slow-twitch skeletal muscle fiber contraction
• regulation of the force of heart contraction
• regulation of the force of skeletal muscle contraction
• skeletal muscle contraction
• striated muscle contraction
• transition between fast and slow fiber
• ventricular cardiac muscle tissue morphogenesis

Molecular functions

• actin filament binding
• ATP binding
• calmodulin binding
• microfilament motor activity

Cellular components

• cytoplasm
• muscle myosin complex
• myofibril
• myosin complex
• myosin filament
• myosin II complex
• sarcomere
• stress fiber
• Z disc

Protein domainsUniProt · Pfam · InterPro

• IQ motif, EF-hand binding site
• Myosin head, motor domain-like
• Myosin tail
• Myosin, SH3 domain
• Myosin S1 fragment, N-terminal
• DNA repair protein XRCC4-like, C-terminal
• P-loop containing nucleoside triphosphate hydrolase
• Kinesin motor domain superfamily
• Myosin head (motor domain)
• Myosin tail
• Myosin N-terminal SH3-like domain

KeywordsUniProt

• Actin-binding
• ATP-binding
• Calmodulin-binding
• Cardiomyopathy
• Coiled coil
• Cytoplasm
• Methylation
• Motor protein
• Muscle protein
• Myosin
• Nucleotide-binding
• Phosphoprotein
• Thick filament

InteractionsUniProt · HPA

Protein binding partners of MYH7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ECPAS
• LRRC39