MYH7
entrez
4625
canonical
uniprot
P12883
canonical
ensembl
ENSG00000092054
resolver
ensp
ENSP00000347507
resolver
ensp
ENSP00000519071
resolver
ensp
ENSP00000528600
resolver
ensp
ENSP00000528604
resolver
ensp
ENSP00000528605
resolver
ensp
ENSP00000528608
resolver
ensp
ENSP00000528609
resolver
ensp
ENSP00000528610
resolver
ensp
ENSP00000635994
resolver
ensp
ENSP00000635995
resolver
ensp
ENSP00000635996
resolver
ensp
ENSP00000635997
resolver
ensp
ENSP00000636000
resolver
ensp
ENSP00000636001
resolver
ensp
ENSP00000636002
resolver
ensp
ENSP00000636006
resolver
ensp
ENSP00000636009
resolver
ensp
ENSP00000636015
resolver
ensp
ENSP00000636017
resolver
enst
ENST00000355349
resolver
enst
ENST00000713769
resolver
enst
ENST00000858541
resolver
enst
ENST00000858545
resolver
enst
ENST00000858546
resolver
enst
ENST00000858549
resolver
enst
ENST00000858550
resolver
enst
ENST00000858551
resolver
enst
ENST00000965935
resolver
enst
ENST00000965936
resolver
enst
ENST00000965937
resolver
enst
ENST00000965938
resolver
enst
ENST00000965941
resolver
enst
ENST00000965942
resolver
enst
ENST00000965943
resolver
enst
ENST00000965947
resolver
enst
ENST00000965950
resolver
enst
ENST00000965956
resolver
enst
ENST00000965958
resolver
genesymbol
MYH7
resolver
genesymbol_syn
MYHCB
resolver
hgnc
HGNC:7577
resolver
uniprot
A2TDB6
resolver
uniprot
B6D424
resolver
uniprot
Q14836
resolver
uniprot
Q14837
resolver
uniprot
Q14904
resolver
uniprot
Q16579
resolver
uniprot
Q2M1Y6
resolver
uniprot
Q92679
resolver
uniprot
Q9H1D5
resolver
uniprot
Q9UDA2
resolver
uniprot
Q9UMM8
resolver
uniprot_entry
MYH7_HUMAN
resolver
uniprot_sec
A2TDB6
resolver
uniprot_sec
B6D424
resolver
uniprot_sec
Q14836
resolver
uniprot_sec
Q14837
resolver
uniprot_sec
Q14904
resolver
uniprot_sec
Q16579
resolver
uniprot_sec
Q2M1Y6
resolver
uniprot_sec
Q92679
resolver
uniprot_sec
Q9H1D5
resolver
uniprot_sec
Q9UDA2
resolver
uniprot_sec
Q9UMM8
resolver
amino_acid_sequence
MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVTAETEYGKTVTVKEDQVMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGLFCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDMLLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFGNMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQVIYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDPLNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLADAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKAKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERLKKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHRSKAEETQRSVNDLTSQRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLEEEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGTKGLNEE
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10065021, ECO:0000269|PubMed:10329202, ECO:0000269|PubMed:10521296, ECO:0000269|PubMed:10563488, ECO:0000269|PubMed:10679957, ECO:0000269|PubMed:10862102, ECO:0000269|PubMed:11113006, ECO:0000269|PubMed:11133230, ECO:0000269|PubMed:11214007, ECO:0000269|PubMed:11424919, ECO:0000269|PubMed:11733062, ECO:0000269|PubMed:11861413, ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12081993, ECO:0000269|PubMed:12566107, ECO:0000269|PubMed:12590187, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12818575, ECO:0000269|PubMed:12820698, ECO:0000269|PubMed:12951062, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:12975413, ECO:0000269|PubMed:1417858, ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15483641, ECO:0000269|PubMed:1552912, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:15856146, ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:16267253, ECO:0000269|PubMed:1638703, ECO:0000269|PubMed:16650083, ECO:0000269|PubMed:16938236, ECO:0000269|PubMed:17095604, ECO:0000269|PubMed:17372140, ECO:0000269|PubMed:18175163, ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:1975517, ECO:0000269|PubMed:25182012, ECO:0000269|PubMed:7581410, ECO:0000269|PubMed:7731997, ECO:0000269|PubMed:7848441, ECO:0000269|PubMed:7874131, ECO:0000269|PubMed:7909436, ECO:0000269|PubMed:8250038, ECO:0000269|PubMed:8254035, ECO:0000269|PubMed:8268932, ECO:0000269|PubMed:8282798, ECO:0000269|PubMed:8343162, ECO:0000269|PubMed:8435239, ECO:0000269|PubMed:8483915, ECO:0000269|PubMed:8533830, ECO:0000269|PubMed:8655135, ECO:0000269|PubMed:8899546, ECO:0000269|PubMed:9544842, ECO:0000269|PubMed:9822100, ECO:0000269|PubMed:9829907}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital myopathy 7A, myosin storage, autosomal dominant (CMYO7A) [MIM:608358]: A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. {ECO:0000269|PubMed:14520662, ECO:0000269|PubMed:15136674, ECO:0000269|PubMed:16684601, ECO:0000269|PubMed:17336526}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11106718, ECO:0000269|PubMed:12379228, ECO:0000269|PubMed:15769782, ECO:0000269|PubMed:18506004, ECO:0000269|PubMed:21127202, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. {ECO:0000269|PubMed:15322983, ECO:0000269|PubMed:17548557}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Congenital myopathy 7B, myosin storage, autosomal recessive (CMYO7B) [MIM:255160]: A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. {ECO:0000269|PubMed:25666907}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Left ventricular non-compaction 5 (LVNC5) [MIM:613426]: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. {ECO:0000269|PubMed:18506004}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle. {ECO:0000305|PubMed:26150528, ECO:0000305|PubMed:26246073}.
uniprot
proteins
mass_dalton
223097
uniprot
proteins
protein_family
Myosin family
uniprot
proteins
protein_family
TRAFAC class myosin-kinesin ATPase superfamily
uniprot
proteins
pubmed
10065021
uniprot
proteins
pubmed
10329202
uniprot
proteins
pubmed
10521296
uniprot
proteins
pubmed
10563488
uniprot
proteins
pubmed
10679957
uniprot
proteins
pubmed
10862102
uniprot
proteins
pubmed
10996847
uniprot
proteins
pubmed
11106718
uniprot
proteins
pubmed
11113006
uniprot
proteins
pubmed
11133230
uniprot
proteins
pubmed
11214007
uniprot
proteins
pubmed
11424919
uniprot
proteins
pubmed
11733062
uniprot
proteins
pubmed
11861413
uniprot
proteins
pubmed
11968089
uniprot
proteins
pubmed
12081993
uniprot
proteins
pubmed
12379228
uniprot
proteins
pubmed
12566107
uniprot
proteins
pubmed
12590187
uniprot
proteins
pubmed
12707239
uniprot
proteins
pubmed
12818575
uniprot
proteins
pubmed
12820698
uniprot
proteins
pubmed
12951062
uniprot
proteins
pubmed
12974739
uniprot
proteins
pubmed
12975413
uniprot
proteins
pubmed
1417858
uniprot
proteins
pubmed
14520662
uniprot
proteins
pubmed
15136674
uniprot
proteins
pubmed
15322983
uniprot
proteins
pubmed
15358028
uniprot
proteins
pubmed
15483641
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1552912
uniprot
proteins
pubmed
15563892
uniprot
proteins
pubmed
15769782
uniprot
proteins
pubmed
15856146
uniprot
proteins
pubmed
15858117
uniprot
proteins
pubmed
16199542
uniprot
proteins
pubmed
16267253
uniprot
proteins
pubmed
1638703
uniprot
proteins
pubmed
16650083
uniprot
proteins
pubmed
16684601
uniprot
proteins
pubmed
1691980
uniprot
proteins
pubmed
16938236
uniprot
proteins
pubmed
17095604
uniprot
proteins
pubmed
17336526
uniprot
proteins
pubmed
17372140
uniprot
proteins
pubmed
17548557
uniprot
proteins
pubmed
18175163
uniprot
proteins
pubmed
18403758
uniprot
proteins
pubmed
18506004
uniprot
proteins
pubmed
1975517
uniprot
proteins
pubmed
20682791
uniprot
proteins
pubmed
20847312
uniprot
proteins
pubmed
21127202
uniprot
proteins
pubmed
21846512
uniprot
proteins
pubmed
2249844
uniprot
proteins
pubmed
2362820
uniprot
proteins
pubmed
2421254
uniprot
proteins
pubmed
25182012
uniprot
proteins
pubmed
2522082
uniprot
proteins
pubmed
25666907
uniprot
proteins
pubmed
26150528
uniprot
proteins
pubmed
26246073
uniprot
proteins
pubmed
26573747
uniprot
proteins
pubmed
2726733
uniprot
proteins
pubmed
2969919
uniprot
proteins
pubmed
3021460
uniprot
proteins
pubmed
3032769
uniprot
proteins
pubmed
3037493
uniprot
proteins
pubmed
7581410
uniprot
proteins
pubmed
7731997
uniprot
proteins
pubmed
7848441
uniprot
proteins
pubmed
7874131
uniprot
proteins
pubmed
7909436
uniprot
proteins
pubmed
8250038
uniprot
proteins
pubmed
8254035
uniprot
proteins
pubmed
8268932
uniprot
proteins
pubmed
8282798
uniprot
proteins
pubmed
8343162
uniprot
proteins
pubmed
8435239
uniprot
proteins
pubmed
8483915
uniprot
proteins
pubmed
8514894
uniprot
proteins
pubmed
8533830
uniprot
proteins
pubmed
8655135
uniprot
proteins
pubmed
8899546
uniprot
proteins
pubmed
9544842
uniprot
proteins
pubmed
9822100
uniprot
proteins
pubmed
9829907
uniprot
proteins
sequence_length
1935
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, myofibril {ECO:0000250|UniProtKB:P02564}. Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:P02564}. Note=Thick filaments of the myofibrils. {ECO:0000250|UniProtKB:P02564}.
uniprot
proteins