MYBPC3
entrez
4607
canonical
uniprot
Q14896
canonical
ensembl
ENSG00000134571
resolver
ensp
ENSP00000442795
resolver
genesymbol
MYBPC3
resolver
hgnc
HGNC:7551
resolver
uniprot
A5PL00
resolver
uniprot
A5YM48
resolver
uniprot
Q16410
resolver
uniprot
Q6R2F7
resolver
uniprot
Q9UE27
resolver
uniprot
Q9UM53
resolver
uniprot_entry
A5YM48_HUMAN
resolver
uniprot_entry
MYPC3_HUMAN
resolver
uniprot_sec
A5PL00
resolver
uniprot_sec
Q16410
resolver
uniprot_sec
Q6R2F7
resolver
uniprot_sec
Q9UE27
resolver
uniprot_sec
Q9UM53
resolver
amino_acid_sequence
MPEPGKKPVSAFSKKPRSVEVAAGSPAVFEAETERAGVKVRWQRGGSDISASNKYGLATEGTRHTLTVREVGPADQGSYAVIAGSSKVKFDLKVIEAEKAEPMLAPAPAPAEATGAPGEAPAPAAELGESAPSPKGSSSAALNGPTPGAPDDPIGLFVMRPQDGEVTVGGSITFSARVAGASLLKPPVVKWFKGKWVDLSSKVGQHLQLHDSYDRASKVYLFELHITDAQPAFTGSYRCEVSTKDKFDCSNFNLTVHEAMGTGDLDLLSAFRRTSLAGGGRRISDSHEDTGILDFSSLLKKRDSFRTPRDSKLEAPAEEDVWEILRQAPPSEYERIAFQYGVTDLRGMLKRLKGMRRDEKKSTAFQKKLEPAYQVSKGHKIRLTVELADHDAEVKWLKNGQEIQMSGSKYIFESIGAKRTLTISQCSLADDAAYQCVVGGEKCSTELFVKEPPVLITRPLEDQLVMVGQRVEFECEVSEEGAQVKWLKDGVELTREETFKYRFKKDGQRHHLIINEAMLEDAGHYALCTSGGQALAELIVQEKKLEVYQSIADLMVGAKDQAVFKCEVSDENVRGVWLKNGKELVPDSRIKVSHIGRVHKLTIDDVTPADEADYSFVPEGFACNLSAKLHFMEVKIDFVPRQEPPKIHLDCPGRIPDTIVVVAGNKLRLDVPISGDPAPTVIWQKAITQGNKAPARPAPDAPEDTGDSDEWVFDKKLLCETEGRVRVETTKDRSIFTVEGAEKEDEGVYTVTVKNPVGEDQVNLTVKVIDVPDAPAAPKISNVGEDSCTVQWEPPAYDGGQPILGYILERKKKKSYRWMRLNFDLIQELSHEARRMIEGVVYEMRVYAVNAIGMSRPSPASQPFMPIGPPSEPTHLAVEDVSDTTVSLKWRPPERVGAGGLDGYSVEYCPEGCSEWVAALQGLTEHTSILVKDLPTGARLLFRVRAHNMAGPGAPVTTTEPVTVQEILQRPRLQLPRHLRQTIQKKVGEPVNLLIPFQGKPRPQVTWTKEGQPLAGEEVSIRNSPTDTILFIRAARRVHSGTYQVTVRIENMEDKATLVLQVVDKPSPPQDLRVTDAWGLNVALEWKPPQDVGNTELWGYTVQKADKKTMEWFTVLEHYRRTHCVVPELIIGNGYYFRVFSQNMVGFSDRAATTKEPVFIPRPGITYEPPNYKALDFSEAPSFTQPLVNRSVIAGYTAMLCCAVRGSPKPKISWFKNGLDLGEDARFRMFSKQGVLTLEIRKPCPFDGGIYVCRATNLQGEARCECRLEVRVPQ
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197]: 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:11499718, ECO:0000269|PubMed:11499719, ECO:0000269|PubMed:11815426, ECO:0000269|PubMed:12379228, ECO:0000269|PubMed:12628722, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12818575, ECO:0000269|PubMed:12951062, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:14563344, ECO:0000269|PubMed:15114369, ECO:0000269|PubMed:15519027, ECO:0000269|PubMed:15563892, ECO:0000269|PubMed:16004897, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:18929575, ECO:0000269|PubMed:18957093, ECO:0000269|PubMed:23840593, ECO:0000269|PubMed:28265379, ECO:0000269|PubMed:7744002, ECO:0000269|PubMed:9048664, ECO:0000269|PubMed:9541104, ECO:0000269|PubMed:9541115, ECO:0000269|PubMed:9562578}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cardiomyopathy, dilated, 1MM (CMD1MM) [MIM:615396]: 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:20215591}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=MYBPC3 mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness. {ECO:0000269|PubMed:26163040}.; DISEASE: Left ventricular non-compaction 10 (LVNC10) [MIM:615396]: 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. LVNC10 is an autosomal dominant condition. {ECO:0000269|PubMed:21551322}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
uniprot
proteins
mass_dalton
140762
uniprot
proteins
post_translational_modification
PTM: Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity). {ECO:0000250}.; PTM: Polyubiquitinated. {ECO:0000269|PubMed:18929575}.
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
MyBP family
uniprot
proteins
pubmed
10521296
uniprot
proteins
pubmed
11499718
uniprot
proteins
pubmed
11499719
uniprot
proteins
pubmed
11815426
uniprot
proteins
pubmed
12110947
uniprot
proteins
pubmed
12379228
uniprot
proteins
pubmed
12628722
uniprot
proteins
pubmed
12707239
uniprot
proteins
pubmed
12787675
uniprot
proteins
pubmed
12818575
uniprot
proteins
pubmed
12951062
uniprot
proteins
pubmed
12974739
uniprot
proteins
pubmed
14563344
uniprot
proteins
pubmed
15114369
uniprot
proteins
pubmed
15213454
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15519027
uniprot
proteins
pubmed
15563892
uniprot
proteins
pubmed
15582318
uniprot
proteins
pubmed
16004897
uniprot
proteins
pubmed
16199542
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18374358
uniprot
proteins
pubmed
18403758
uniprot
proteins
pubmed
18560154
uniprot
proteins
pubmed
18926831
uniprot
proteins
pubmed
18929575
uniprot
proteins
pubmed
18957093
uniprot
proteins
pubmed
20215591
uniprot
proteins
pubmed
21551322
uniprot
proteins
pubmed
23840593
uniprot
proteins
pubmed
26163040
uniprot
proteins
pubmed
28265379
uniprot
proteins
pubmed
7493026
uniprot
proteins
pubmed
7744002
uniprot
proteins
pubmed
9048664
uniprot
proteins
pubmed
9541104
uniprot
proteins
pubmed
9541115
uniprot
proteins
pubmed
9562578
uniprot
proteins
sequence_length
1274
uniprot
proteins