MYBPC1
Myosin Binding Protein C, Slow Type
Gene Information Card
| Symbol | MYBPC1 |
|---|---|
| Full Name | Myosin Binding Protein C, Slow Type |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.2 |
| NCBI Gene ID | 4604 ncbi.nlm.nih.gov/gene/4604 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q00872 |
| OMIM ID | 160794 |
| HGNC ID | 7551 |
| Aliases | MYBPCC, MYBPC, C-protein, slow-type |
Description
MYBPC1 encodes the slow-type myosin binding protein C, a component of the sarcomere's thick filament in slow-twitch skeletal muscle fibers. It binds myosin heavy chain and titin, modulating cross-bridge cycling and muscle contraction. Mutations in MYBPC1 are associated with distal arthrogryposis type 1 and 2, as well as hypertrophic cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Distal Arthrogryposis Type 1 (DA1) | Missense mutations in MYBPC1 disrupt sarcomere assembly and contractile function, leading to congenital joint contractures. | ClinVar, OMIM #160794 |
| Distal Arthrogryposis Type 2 (DA2) | Dominant-negative effects of MYBPC1 variants impair myosin binding and cross-bridge kinetics. | ClinVar, OMIM #160794 |
| Hypertrophic Cardiomyopathy (HCM) | Rare MYBPC1 variants may alter cardiac sarcomere compliance, though primarily associated with MYBPC3. | ClinVar, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle (slow-twitch) | 45.2 | High |
| Heart | 12.8 | Medium |
| Esophagus | 8.1 | Medium |
| Brain | 1.5 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myocytes | 52.0 | Primary cell type |
| Cardiomyocytes | 15.3 | Differentiated from iPSC |
| Fibroblasts | 0.8 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.772G>A (p.Glu258Lys) | Missense | <0.01% | Dominant-negative; associated with DA1 |
| c.1223C>T (p.Pro408Leu) | Missense | <0.01% | Gain-of-function?; linked to DA2 |
| c.1820A>G (p.Asn607Ser) | Missense | <0.01% | Loss-of-function; reduced myosin binding |
Mutation functional classification
Loss of Function (LOF)
Rare truncating or missense variants that reduce myosin binding affinity or protein stability, leading to impaired sarcomere assembly.
Gain of Function (GOF)
Some missense mutations (e.g., p.Pro408Leu) may enhance myosin binding or alter cross-bridge kinetics, contributing to contracture phenotypes.
Dominant Negative (DN)
Common mechanism in DA1/DA2 where mutant MYBPC1 interferes with wild-type protein function, disrupting sarcomere integrity.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • myosin binding |
| • sarcomere organization | • muscle contraction |
| • striated muscle thin filament assembly |
Pathways
• Sarcomere organization (Reactome R-HSA-390522)
• Striated muscle contraction (Reactome R-HSA-397014)
Protein Summary
MYBPC1 encodes a 1,141-amino acid protein (slow-type myosin binding protein C) localized to the A-band of sarcomeres in slow skeletal muscle. It contains immunoglobulin-like and fibronectin type III domains, mediating interactions with myosin heavy chain and titin. The protein regulates cross-bridge cycling and muscle contraction velocity. Alternative splicing generates isoforms with tissue-specific expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYBPC1 Knockout HEK293 Cell Line | EDJ-KQ5281 | Human | 4604 | Details Get a Quote |
| MYBPC1 Knockout HeLa Cell Line | EDJ-KQ53929 | Human | 4604 | Details Get a Quote |
| MYBPC1 Knockout A-549 Cell Line | EDJ-KQ62423 | Human | 4604 | Details Get a Quote |
| MYBPC1 Knockout HCT 116 Cell Line | EDJ-KQ70890 | Human | 4604 | Details Get a Quote |
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