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

Gene ID: 17868, updated on 3-Apr-2024

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
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Genomic context

See Mybpc3 in Genome Data Viewer
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_000068.8Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 (metal ion transporter), member 13 Neighboring gene STARR-positive B cell enhancer ABC_E2041 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:90910894-90911077 Neighboring gene predicted gene, 39874 Neighboring gene STARR-positive B cell enhancer ABC_E4476 Neighboring gene Spi-1 proto-oncogene Neighboring gene STARR-positive B cell enhancer ABC_E4477 Neighboring gene STARR-seq mESC enhancer starr_05105 Neighboring gene STARR-seq mESC enhancer starr_05107 Neighboring gene MAP-kinase activating death domain Neighboring gene STARR-positive B cell enhancer mm9_chr2:91023256-91023557 Neighboring gene STARR-positive B cell enhancer ABC_E4478 Neighboring gene nuclear receptor subfamily 1, group H, member 3 Neighboring gene predicted gene, 23390

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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

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)

  1. NM_008653.3NP_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

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    90948459..90966862
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011239341.2XP_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:660772
    Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
    cd00063
    Location:776866
    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:9941066
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    pfam07679
    Location:11851274
    I-set; Immunoglobulin I-set domain
    pfam18362
    Location:324357
    THB; Tri-helix bundle domain
    cl11960
    Location:20102
    Ig; Immunoglobulin domain
  2. XM_006498882.3XP_006498945.1  myosin-binding protein C, cardiac-type isoform X2

    UniProtKB/TrEMBL
    E9Q9T8
    Related
    ENSMUSP00000119994.3, ENSMUST00000137942.8
    Conserved Domains (6) summary
    cd05894
    Location:659771
    Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
    cd00063
    Location:775865
    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:9931065
    Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar domains
    pfam07679
    Location:11841273
    I-set; Immunoglobulin I-set domain
    pfam18362
    Location:323356
    THB; Tri-helix bundle domain
    cl11960
    Location:20102
    Ig; Immunoglobulin domain