Mybpc3 myosin binding protein C, cardiac [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mybpc3provided by MGI
Official Full Name: myosin binding protein C, cardiacprovided by MGI
Primary source: MGI:MGI:102844
See related: Ensembl:ENSMUSG00000002100 AllianceGenome:MGI:102844
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables myosin heavy chain binding activity. Acts upstream of or within several processes, including actin cytoskeleton organization; cardiac muscle contraction; and regulation of heart rate. Located in A band. Is expressed in several structures, including alimentary system; cardiovascular system; face; liver; and skeleton. Used to study hypertrophic cardiomyopathy 4. Human ortholog(s) of this gene implicated in familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 4. Orthologous to human MYBPC3 (myosin binding protein C3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward heart adult (RPKM 559.6) See more
Orthologs: human all
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Genomic context

Location:: 2 E1; 2 50.44 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (90948459..90966862)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (91118114..91136516)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of heterozygous and homozygous mouse models with the most common hypertrophic cardiomyopathy mutation MYBPC3c.2373InsG in the Netherlands.
Title: Characterization of heterozygous and homozygous mouse models with the most common hypertrophic cardiomyopathy mutation MYBPC3(c.2373InsG) in the Netherlands.
MYBPC3 deficiency in cardiac fibroblasts drives their activation and contributes to fibrosis.
Title: MYBPC3 deficiency in cardiac fibroblasts drives their activation and contributes to fibrosis.
Amino terminus of cardiac myosin binding protein-C regulates cardiac contractility.
Title: Amino terminus of cardiac myosin binding protein-C regulates cardiac contractility.
Cardiac myosin binding protein-C phosphorylation accelerates beta-cardiac myosin detachment rate in mouse myocardium.
Title: Cardiac myosin binding protein-C phosphorylation accelerates β-cardiac myosin detachment rate in mouse myocardium.
Phosphomimetic cardiac myosin-binding protein C partially rescues a cardiomyopathy phenotype in murine engineered heart tissue.
Title: Phosphomimetic cardiac myosin-binding protein C partially rescues a cardiomyopathy phenotype in murine engineered heart tissue.
A Novel ""Cut and Paste"" Method for In Situ Replacement of cMyBP-C Reveals a New Role for cMyBP-C in the Regulation of Contractile Oscillations.
Title: A Novel "Cut and Paste" Method for In Situ Replacement of cMyBP-C Reveals a New Role for cMyBP-C in the Regulation of Contractile Oscillations.
Expression of cMyBP-C protein with a modified C10 domain is sufficient to cause contractile dysfunction and hypertrophic cardiomyopathy in transgenic mice.
Title: Altered C10 domain in cardiac myosin binding protein-C results in hypertrophic cardiomyopathy.
these findings demonstrate the physiological significance of calpain-targeted cMyBP-C proteolysis.
Title: Ablation of the calpain-targeted site in cardiac myosin binding protein-C is cardioprotective during ischemia-reperfusion injury.
The cardiac phenotypes associated with MYBPC3 null mice are reversible.
Title: Recovery of left ventricular function following in vivo reexpression of cardiac myosin binding protein C.
These data define dosage-dependent effects of cMyBPC on myosin that occur across the cardiac cycle as the pathophysiologic mechanisms by which MYBPC3 truncations cause Hypertrophic cardiomyopathy.
Title: Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

Submit: New GeneRIF Correction See all GeneRIFs (97)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (11) 1 citation
Not Applicable (1) 1 citation
Endonuclease-mediated (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myosin binding	ISO Inferred from Sequence Orthology more info
enables myosin heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin heavy chain binding	IPI Inferred from Physical Interaction more info	PubMed
enables myosin heavy chain binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of cytoskeleton	TAS Traceable Author Statement more info	PubMed
enables structural constituent of muscle	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cardiac muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within muscle contraction	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within myosin filament assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart contraction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ventricular cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in A band	IDA Inferred from Direct Assay more info	PubMed
located_in A band	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in M band	IBA Inferred from Biological aspect of Ancestor more info
located_in cardiac myofibril	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed
located_in myosin filament	IEA Inferred from Electronic Annotation more info
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
located_in sarcomere	ISO Inferred from Sequence Orthology more info
located_in striated muscle myosin thick filament	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: myosin-binding protein C, cardiac-type

Names: cardiac C-protein; cardiac MyBP-C

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_008653.3 → NP_032679.3 myosin-binding protein C, cardiac-type

Status: VALIDATED

Source sequence(s)

AL691450

Consensus CDS

CCDS50631.1

Related

ENSMUSP00000127070.2, ENSMUST00000169776.2

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

90948459..90966862

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011239341.2 → XP_011237643.1 myosin-binding protein C, cardiac-type isoform X1

See identical proteins and their annotated locations for XP_011237643.1

UniProtKB/TrEMBL

E9Q9T8, Q3UIK0

Conserved Domains (6) summary

cd05894
Location:660 → 772

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

cd00063
Location:776 → 866

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05748
Location:994 → 1066

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains

pfam07679
Location:1185 → 1274

I-set; Immunoglobulin I-set domain

pfam18362
Location:324 → 357

THB; Tri-helix bundle domain

cl11960
Location:20 → 102

Ig; Immunoglobulin domain
XM_006498882.3 → XP_006498945.1 myosin-binding protein C, cardiac-type isoform X2

UniProtKB/TrEMBL

E9Q9T8

Related

ENSMUSP00000119994.3, ENSMUST00000137942.8

Conserved Domains (6) summary

cd05894
Location:659 → 771

Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)

cd00063
Location:775 → 865

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd05748
Location:993 → 1065

Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains

pfam07679
Location:1184 → 1273

I-set; Immunoglobulin I-set domain

pfam18362
Location:323 → 356

THB; Tri-helix bundle domain

cl11960
Location:20 → 102

Ig; Immunoglobulin domain