MYBPC3 - myosin binding protein C3 Gene
Also Known as FHC; CMH4; CMD1MM; LVNC10; MYBP-C; cMyBP-C
Species: Homo sapiens
About MYBPC3
This gene has 3 transcripts (splice variants), 210 orthologues, 11 paralogues and is associated with 6 phenotypes. Restricted expression toward heart (RPKM 426.0).
Summary
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]
MYBPC3 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000256.3 | NP_000247.2 | myosin-binding protein C, cardiac-type |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
18201573 | GOA |
| enables myosin binding |
IDA
IDA: Inferred from direct assay
|
10024460 | GOA |
| enables myosin heavy chain binding |
IPI
IPI: Inferred from physical interaction
|
17192269 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21569246 | GOA |
| enables structural constituent of muscle |
IMP
IMP: Inferred from mutant phenotype
|
7493025 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in heart morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
7493025 | GOA |
| involved in ventricular cardiac muscle tissue morphogenesis |
IMP
IMP: Inferred from mutant phenotype
|
11815426 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in A band |
IDA
IDA: Inferred from direct assay
|
10024460 | GOA |
| located in cardiac myofibril |
IDA
IDA: Inferred from direct assay
|
25771144 | GOA |
| located in sarcomere |
IDA
IDA: Inferred from direct assay
|
10024460 | GOA |
| located in striated muscle myosin thick filament |
IDA
IDA: Inferred from direct assay
|
10024460 | GOA |
MYBPC3 Protein Structure
I-set: Immunoglobulin I-set domain (11 - 85)
I-set: Immunoglobulin I-set domain (157 - 256)
I-set: Immunoglobulin I-set domain (365 - 439)
I-set: Immunoglobulin I-set domain (456 - 527)
I-set: Immunoglobulin I-set domain (548 - 616)
I-set: Immunoglobulin I-set domain (655 - 768)
fn3: Fibronectin type III domain (773 - 858)
fn3: Fibronectin type III domain (871 - 954)
I-set: Immunoglobulin I-set domain (981 - 1062)
fn3: Fibronectin type III domain (1067 - 1148)
I-set: Immunoglobulin I-set domain (1181 - 1270)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1200
- 1274 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myosin-binding protein C, cardiac-type |
|
MYBPC3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
MYBPC3 | Q14896 | PDE4DIP | Homo sapiens | Q5VU43-11 | 21569246 | |
|
Intra
|
MYBPC3 | Q14896 | PDE4DIP | Homo sapiens | Q5VU43-11 | 21569246 | |
|
Intra
|
MYBPC3 | Q14896 | MYH7 | Homo sapiens | P12883 | 23980194 | |
|
Intra
|
MYBPC3 | Q14896 | MYBPC3 | Homo sapiens | Q14896 | 18201573 | |
|
Intra
|
MYBPC3 | Q14896 | TRIM63 | Homo sapiens | Q969Q1 | 18157088 | |
|
Intra
|
MYBPC3 | Q14896 | ACTC1 | Homo sapiens | P68032 | 23980194 | |
|
Intra
|
MYBPC3 | Q14896 | MYBPC3 | Homo sapiens | Q14896 | 18201573 |
Recombinant MYBPC3 Proteins
| Cat. No. | 상품명 | Accession | Purity |
|---|---|---|---|
| HY-P71532 | MYBPC3 Protein, Human (His-SUMO) | Q14896-1 (M1-A328) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P71532A | MYBPC3 Protein, Human (HEK293, His) | Q14896-1 (M1-A328) | ≥ 95%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
|
| Left Ventricular Noncompaction 10 |
|
|
| Left Ventricular Noncompaction |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Cardiac Conduction Defect |
|
|
| Heart Conduction Disease |
|
|
| Sudden Infant Death Syndrome |
|
|
| Cardiomyopathy, Dilated, 1b |
|
|
| Dilated Cardiomyopathy |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Long Qt Syndrome |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Wolff-Parkinson-White Syndrome |
|
|
| Cardiomyopathy, Dilated, 1a |
|
|
| Cardiomyopathy, Dilated, 1h |
|
|
| Restrictive Cardiomyopathy |
|
|
| Heart Disease |
|
|
| Lethal Congenital Contracture Syndrome 4 |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Osteopetrosis, Autosomal Recessive 8 |
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
|
| Danon Disease |
|
|
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
|
| Hereditary Spastic Paraplegia 72 |
|
|
| Congestive Heart Failure |
|
|
| Atrial Standstill 1 |
|
|
| Mitral Valve Insufficiency |
|
|
| Ebstein Anomaly |
|
|
| Peripartum Cardiomyopathy |
|
|
| Myopathy, Distal, 1 |
|
|
| Diastolic Heart Failure |
|
|
| Mitral Valve Disease |
|
|
| Mitochondrial Dna Depletion Syndrome 12b |
|
|
| Barth Syndrome |
|
|
| Constrictive Pericarditis |
|
|
| Left Bundle Branch Hemiblock |
|
|
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
|
| Distal Arthrogryposis |
|
|
| Tricuspid Valve Disease |
|
|
| Endomyocardial Fibrosis |
|
|
| Systolic Heart Failure |
|
|
| Rasopathy |
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
|
| Cardiomyopathy, Infantile Hypertrophic |
|
|
| Heart Valve Disease |
|
|
| Aortic Valve Disease 2 |
|
|
| Noonan Syndrome With Multiple Lentigines |
|
|
| Arrhythmogenic Right Ventricular Cardiomyopathy |
|
|
| Brugada Syndrome |
|
|
| Long Qt Syndrome 2 |
|
|
| Long Qt Syndrome 1 |
|
|
| Atrial Heart Septal Defect |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Myofibrillar Myopathy |
|
|
| Patent Foramen Ovale |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Familial Atrial Fibrillation |
|
|
| Noonan Syndrome 1 |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | MYBPC3 | VGNC | VGNC:75094 |
| Canis familiaris | MYBPC3 | VGNC | VGNC:43524 |
| Mus musculus | MYBPC3 | MGD | MGI:102844 |
| Rattus norvegicus | MYBPC3 | RGD | RGD:1305950 |
| Felis catus | MYBPC3 | VGNC | VGNC:68375 |
| Bos taurus | MYBPC3 | VGNC | VGNC:31781 |
| Others | MYBPC3 | NCBI |