MYBPC3

Protein identityUniProt · HPA

UniProt accession

Q14896

Gene

MYBPC3

Ensembl

ENSG00000134571

Chromosome

11

Canonical length

1274 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3 is expressed exclusively in heart muscle and is a key regulator of cardiac contraction. Mutations in this gene are a frequent cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, May 2022]

Canonical amino-acid sequenceUniProt

1274 residues, UniProt reviewed canonical sequence.

>Q14896|MYBPC3
     1  MPEPGKKPVS AFSKKPRSVE VAAGSPAVFE AETERAGVKV RWQRGGSDIS ASNKYGLATE
    61  GTRHTLTVRE VGPADQGSYA VIAGSSKVKF DLKVIEAEKA EPMLAPAPAP AEATGAPGEA
   121  PAPAAELGES APSPKGSSSA ALNGPTPGAP DDPIGLFVMR PQDGEVTVGG SITFSARVAG
   181  ASLLKPPVVK WFKGKWVDLS SKVGQHLQLH DSYDRASKVY LFELHITDAQ PAFTGSYRCE
   241  VSTKDKFDCS NFNLTVHEAM GTGDLDLLSA FRRTSLAGGG RRISDSHEDT GILDFSSLLK
   301  KRDSFRTPRD SKLEAPAEED VWEILRQAPP SEYERIAFQY GVTDLRGMLK RLKGMRRDEK
   361  KSTAFQKKLE PAYQVSKGHK IRLTVELADH DAEVKWLKNG QEIQMSGSKY IFESIGAKRT
   421  LTISQCSLAD DAAYQCVVGG EKCSTELFVK EPPVLITRPL EDQLVMVGQR VEFECEVSEE
   481  GAQVKWLKDG VELTREETFK YRFKKDGQRH HLIINEAMLE DAGHYALCTS GGQALAELIV
   541  QEKKLEVYQS IADLMVGAKD QAVFKCEVSD ENVRGVWLKN GKELVPDSRI KVSHIGRVHK
   601  LTIDDVTPAD EADYSFVPEG FACNLSAKLH FMEVKIDFVP RQEPPKIHLD CPGRIPDTIV
   661  VVAGNKLRLD VPISGDPAPT VIWQKAITQG NKAPARPAPD APEDTGDSDE WVFDKKLLCE
   721  TEGRVRVETT KDRSIFTVEG AEKEDEGVYT VTVKNPVGED QVNLTVKVID VPDAPAAPKI
   781  SNVGEDSCTV QWEPPAYDGG QPILGYILER KKKKSYRWMR LNFDLIQELS HEARRMIEGV
   841  VYEMRVYAVN AIGMSRPSPA SQPFMPIGPP SEPTHLAVED VSDTTVSLKW RPPERVGAGG
   901  LDGYSVEYCP EGCSEWVAAL QGLTEHTSIL VKDLPTGARL LFRVRAHNMA GPGAPVTTTE
   961  PVTVQEILQR PRLQLPRHLR QTIQKKVGEP VNLLIPFQGK PRPQVTWTKE GQPLAGEEVS
  1021  IRNSPTDTIL FIRAARRVHS GTYQVTVRIE NMEDKATLVL QVVDKPSPPQ DLRVTDAWGL
  1081  NVALEWKPPQ DVGNTELWGY TVQKADKKTM EWFTVLEHYR RTHCVVPELI IGNGYYFRVF
  1141  SQNMVGFSDR AATTKEPVFI PRPGITYEPP NYKALDFSEA PSFTQPLVNR SVIAGYTAML
  1201  CCAVRGSPKP KISWFKNGLD LGEDARFRMF SKQGVLTLEI RKPCPFDGGI YVCRATNLQG
  1261  EARCECRLEV RVPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MYBPC3 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)

0.35

Highest tissue expression

1,616 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MYBPC3.

Disease | AllUniProt

Conditions MYBPC3 is implicated in, by any mechanism.

• Cardiomyopathy, familial hypertrophic, 4 (CMH4) MIM:115197
• Cardiomyopathy, dilated, 1MM (CMD1MM) MIM:615396
• Left ventricular non-compaction 10 (LVNC10) MIM:615396

Disease | GeneticClinVar

1,072 pathogenic / likely-pathogenic of 4,670 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hypertrophic cardiomyopathy
• Cardiovascular phenotype
• Hypertrophic cardiomyopathy 4
• Cardiomyopathy
• Left ventricular noncompaction 10

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)

0.59

gnomAD pLI

0

gnomAD missense Z

1.45

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle contraction
• cell adhesion
• heart morphogenesis
• regulation of cardiac muscle cell contraction
• regulation of muscle filament sliding
• regulation of striated muscle contraction
• sarcomere organization
• ventricular cardiac muscle tissue morphogenesis

Molecular functions

• actin binding
• ATPase activator activity
• identical protein binding
• metal ion binding
• myosin binding
• myosin heavy chain binding
• structural constituent of muscle
• titin binding

Cellular components

• A band
• cardiac myofibril
• cytosol
• M band
• sarcomere
• striated muscle myosin thick filament
• C zone

Protein domainsUniProt · Pfam · InterPro

• Immunoglobulin subtype 2
• Immunoglobulin domain subtype
• Fibronectin type III
• Immunoglobulin-like domain
• Immunoglobulin I-set
• Immunoglobulin-like fold
• Fibronectin type III superfamily
• Immunoglobulin-like domain superfamily
• MyBP-C, tri-helix bundle domain
• Striated Muscle Structural and Regulatory Protein
• Fibronectin type III domain
• Immunoglobulin I-set domain
• Tri-helix bundle domain

KeywordsUniProt

• Acetylation
• Actin-binding
• Cardiomyopathy
• Cell adhesion
• Disulfide bond
• Immunoglobulin domain
• Metal-binding
• Methylation
• Muscle protein
• Phosphoprotein
• Repeat
• Thick filament
• Ubl conjugation
• Zinc

InteractionsUniProt · HPA

Protein binding partners of MYBPC3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TNNI3K