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    mybpc3 myosin binding protein C3 [ Danio rerio (zebrafish) ]

    Gene ID: 556489, updated on 9-Dec-2024

    Summary

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    Official Symbol
    mybpc3provided by ZNC
    Official Full Name
    myosin binding protein C3provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-070112-2362
    See related
    Ensembl:ENSDARG00000011615 AllianceGenome:ZFIN:ZDB-GENE-070112-2362
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    im:6900815; zgc:152717; zgc:158442; hm:zehn0716
    Summary
    Predicted to enable myosin heavy chain binding activity. Acts upstream of or within cardiac chamber morphogenesis; heart contraction; and regulation of heart rate. Predicted to be located in myosin filament. Predicted to be active in M band. Is expressed in anterior macula; heart rudiment; musculature system; pericardial region; and trunk. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1MM; familial hypertrophic cardiomyopathy; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 4. Orthologous to human MYBPC3 (myosin binding protein C3). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See mybpc3 in Genome Data Viewer
    Location:
    chromosome: 7
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 7 NC_007118.7 (31838321..31899118)
    105 previous assembly GRCz10 (GCF_000002035.5) 7 NC_007118.6 (31567154..31627970)

    Chromosome 7 - NC_007118.7Genomic Context describing neighboring genes Neighboring gene nucleosome assembly protein 1-like 4b Neighboring gene cysteinyl-tRNA synthetase 1 Neighboring gene lin-7 homolog C (C. elegans) Neighboring gene uncharacterized LOC103911387 Neighboring gene brain-derived neurotrophic factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Zebrafish cardiac muscle thick filaments: isolation technique and three-dimensional structure. González-Solá M, et al. Biophys J, 2014 Apr 15. PMID 24739166, Free PMC Article
    2. Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model. Da'as SI, et al. J Cell Physiol, 2020 Nov. PMID 31943169
    3. Inactivation of Myosin binding protein C homolog in zebrafish as a model for human cardiac hypertrophy and diastolic dysfunction. Chen YH, et al. J Am Heart Assoc, 2013 Sep 18. PMID 24047589, Free PMC Article
    4. Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models. Hodatsu A, et al. Am J Physiol Heart Circ Physiol, 2014 Dec 1. PMID 25281569
    5. Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model. Da'as SI, et al. Int J Mol Sci, 2022 Aug 9. PMID 36012114, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Pathways from PubChem

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    General gene information

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    Homology

    Clone Names

    • MGC152717, MGC158442

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cardiac atrium formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cardiac ventricle formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart morphogenesis 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 
    acts_upstream_of_or_within ventricular cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in myosin filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    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_001044349.2 → NP_001037814.2  myosin-binding protein C, cardiac-type

      Status: VALIDATED

      Source sequence(s)
      BC107633, CN179233, CO930551, DT081938, EB890884, EB892846, EB896522, EB897596, EB897718
      UniProtKB/TrEMBL
      A0A8M1N978, A0A8M9QC07
      Related
      ENSDARP00000143224.1, ENSDART00000174217.2
      Conserved Domains (8) summary
      cd00096
      Location:1181 → 1245
      Ig; Immunoglobulin domain
      cd05748
      Location:973 → 1045
      Ig_Titin_like; Immunoglobulin (Ig)-like domain of titin and similar proteins
      cd05894
      Location:666 → 751
      Ig_C5_MyBP-C; C5 immunoglobulin (Ig) domain of cardiac myosin binding protein C (MyBP-C)
      smart00408
      Location:478 → 536
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:668 → 751
      IG_like; Immunoglobulin like
      cd00063
      Location:755 → 841
      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:1164 → 1253
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:400 → 461
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007118.7 Reference GRCz11 Primary Assembly

      Range
      31838321..31899118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068222308.1 → XP_068078409.1  myosin-binding protein C, cardiac-type isoform X1

      UniProtKB/TrEMBL
      A0A8M9QC07
      Related
      ENSDARP00000109343.2, ENSDART00000122506.3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001080680.1: Suppressed sequence

      Description
      NM_001080680.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version

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