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myosin-binding protein C, cardiac-type; cardiac MyBP-C; C-protein, cardiac muscle isoform (MYBPC3)
Function:
- thick filament-associated protein located in the crossbridge region of vertebrate striated muscle A-bands
- in vitro, MYBPC3 binds MHC, F-actin & native thin filaments, & modifies the activity of actin-activated myosin ATPase
- MYBPC3 may modulate muscle contraction or may play a more structural role
- substrate for phosphorylation by PKA & PKC
- reversible phosphorylation appears to modulate contraction (putative)
Structure:
- belongs to the immunoglobulin superfamily, MyBP family
- contains 3 fibronectin F3 modules
- contains 7 Ig-like C2-type domains
Pathology:
- defects in MYBPC3 are the cause of familial hypertrophic cardiomyopathy type 4
Laboratory:
- MYBPC3 gene mutation
Notes:
- MYBPC3 gene mutation successfully repaired in human embryos using CRISPR technology [2]
General
immunoglobulin superfamily protein
phosphoprotein
Properties
SIZE: entity length = 1273 aa
MW = 141 kD
MOTIF: acetylation site
SITE: N-TERMINUS
EFFECTOR-BOUND: acetyl
proline-rich region
SITE: 102-152
MOTIF: proline residue (SEVERAL)
immunoglobulin superfamily domain {153-256}
MOTIF: Zn+2-binding site
SITE: 208-208
Zn+2-binding site
SITE: 210-210
Zn+2-binding site
SITE: 223-223
Zn+2-binding site
SITE: 225-225
Ser phosphorylation site {S275}
Ser phosphorylation site {S284}
Ser phosphorylation site {S304}
immunoglobulin superfamily domain {362-451}
MOTIF: cysteine residue {C435}
MODIFICATION: cysteine residue {C442}
cysteine residue {C442}
MODIFICATION: cysteine residue {C435}
immunoglobulin superfamily domain {452-542}
immunoglobulin superfamily domain {543-632}
immunoglobulin superfamily domain {644-770}
fibronectin type III domain or F3 module {771-863}
fibronectin type III domain or F3 module {868-961}
immunoglobulin superfamily domain {970-1064}
fibronectin type III domain or F3 module {1065-1157}
immunoglobulin superfamily domain {1180-1273}
Database Correlations
OMIM correlations
MORBIDMAP 600958
UniProt Q14896
PFAM correlations
Entrez Gene 4607
Kegg hsa:4607
References
- UniProt :accession Q14896
- Ma H, Marti-Gutierrez N, Park SW et al
Correction of a pathogenic gene mutation in human embryos.
Nature (2017). Published online 02 August 2017
PMID: 28783728
http://www.nature.com/nature/journal/vaop/ncurrent/full/nature23305.html