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    MYBPC3 myosin binding protein C, cardiac [ Homo sapiens (human) ]

    Gene ID: 4607, updated on 19-Mar-2017
    Official Symbol
    MYBPC3provided by HGNC
    Official Full Name
    myosin binding protein C, cardiacprovided by HGNC
    Primary source
    HGNC:HGNC:7551
    See related
    Ensembl:ENSG00000134571 MIM:600958; Vega:OTTHUMG00000166986
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FHC; CMH4; CMD1MM; LVNC10; MYBP-C
    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, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    11p11.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (47331406..47352702, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47352957..47374253, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene acid phosphatase 2, lysosomal Neighboring gene nuclear receptor subfamily 1 group H member 3 Neighboring gene uncharacterized LOC101928943 Neighboring gene MAP kinase activating death domain Neighboring gene Spi-1 proto-oncogene Neighboring gene microRNA 4487

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in MYBPC3 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2015-11-12)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2015-11-12)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A meta-analysis of genome-wide association studies identifies ORM1 as a novel gene controlling thrombin generation potential.
    NHGRI GWA Catalog
    • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
      Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Dilated cardiomyopathy, conserved biosystem (from KEGG)
      Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
    • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
      Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Striated Muscle Contraction, organism-specific biosystem (from REACTOME)
      Striated Muscle Contraction, organism-specific biosystemStriated muscle contraction is a process whereby force is generated within striated muscle tissue, resulting in a change in muscle geometry, or in short, increased force being exerted on the tendons....
    • Striated Muscle Contraction, organism-specific biosystem (from WikiPathways)
      Striated Muscle Contraction, organism-specific biosystemMuscle contraction is the process where muscle tissue is activated by a signal from the nervous system. In case of voluntary action the nervous signals are initiated from the brain by so called actio...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp779E1762

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    muscle alpha-actinin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    myosin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin heavy chain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    structural molecule activity conferring elasticity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    titin binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cardiac muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    muscle filament sliding TAS
    Traceable Author Statement
    more info
     
    positive regulation of ATPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of muscle filament sliding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of striated muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    striated muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    striated muscle myosin thick filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    A band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    C zone NAS
    Non-traceable Author Statement
    more info
    PubMed 
    M band IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cardiac myofibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    striated muscle myosin thick filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    striated muscle myosin thick filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    myosin-binding protein C, cardiac-type
    Names
    C-protein, cardiac muscle isoform
    truncated cardiac myosin-binding protein C

    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.

    Genomic

    1. NG_007667.1 RefSeqGene

      Range
      5001..26297
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_386

    mRNA and Protein(s)

    1. NM_000256.3NP_000247.2  myosin-binding protein C, cardiac-type

      See identical proteins and their annotated locations for NP_000247.2

      Status: REVIEWED

      Source sequence(s)
      AJ708511, AJ708699, AL691822, AU140784, DA563514, EF560722
      Consensus CDS
      CCDS53621.1
      UniProtKB/Swiss-Prot
      Q14896
      UniProtKB/TrEMBL
      A5YM48
      Related
      ENSP00000442795, OTTHUMP00000234664, ENST00000545968, OTTHUMT00000392271
      Conserved Domains (9) summary
      cd05748
      Location:9901062
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      cd05894
      Location:655768
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:12001257
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:161256
      IG; Immunoglobulin
      smart00410
      Location:9811062
      IG_like; Immunoglobulin like
      cd00063
      Location:772862
      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 ...
      pfam07679
      Location:11811270
      I-set; Immunoglobulin I-set domain
      pfam00047
      Location:161245
      ig; Immunoglobulin domain
      cl11960
      Location:1589
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      47331406..47352702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      47352197..47373500 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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