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    Mybphl myosin binding protein H-like [ Mus musculus (house mouse) ]

    Gene ID: 68753, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Mybphlprovided by MGI
    Official Full Name
    myosin binding protein H-likeprovided by MGI
    Primary source
    MGI:MGI:1916003
    See related
    Ensembl:ENSMUSG00000068745 AllianceGenome:MGI:1916003
    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
    Also known as
    1110037P11Rik
    Summary
    Acts upstream of or within in utero embryonic development. Located in myofilament. Is expressed in heart atrium. Orthologous to human MYBPHL (myosin binding protein H like). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward heart adult (RPKM 87.9) See more
    Orthologs
    human all
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    Genomic context

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    See Mybphl in Genome Data Viewer
    Location:
    3 F3; 3 46.98 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (108272227..108287373)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (108364911..108380057)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_08682 Neighboring gene proteasome subunit alpha 5 Neighboring gene predicted gene, 19343 Neighboring gene STARR-seq mESC enhancer starr_08684 Neighboring gene sortilin 1 Neighboring gene STARR-seq mESC enhancer starr_08685 Neighboring gene STARR-positive B cell enhancer ABC_E2094 Neighboring gene predicted gene 12522 Neighboring gene proline/serine-rich coiled-coil 1 Neighboring gene cadherin, EGF LAG seven-pass G-type receptor 2 Neighboring gene predicted gene, 52630

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects. Barefield DY, et al. J Mol Cell Cardiol, 2022 Aug. PMID 35533732, Free PMC Article
    2. Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy. Barefield DY, et al. Circulation, 2017 Oct 17. PMID 28778945, Free PMC Article
    3. Histone deacetylase 3 modulates Tbx5 activity to regulate early cardiogenesis. Lewandowski SL, et al. Hum Mol Genet, 2014 Jul 15. PMID 24565863, Free PMC Article
    4. A staging system for correct phenotype interpretation of mouse embryos harvested on embryonic day 14 (E14.5). Geyer SH, et al. J Anat, 2017 May. PMID 28185240, Free PMC Article
    5. Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wilson R, et al. Wellcome Open Res, 2016. PMID 27996060, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.
      Title: Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.
    2. Report reduced ventricular function and conduction system defects in Mybphl knockout mice.
      Title: Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (2) 

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107699

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in myofilament IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in myofilament ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcomere IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myosin-binding protein H-like

    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_026831.1 → NP_081107.1  myosin-binding protein H-like

      See identical proteins and their annotated locations for NP_081107.1

      Status: VALIDATED

      Source sequence(s)
      AK004148, BC089625, BY704393
      Consensus CDS
      CCDS17757.1
      UniProtKB/Swiss-Prot
      Q5FW53
      Related
      ENSMUSP00000088051.6, ENSMUST00000090563.7
      Conserved Domains (5) summary
      cd00096
      Location:281 → 345
      Ig; Immunoglobulin domain
      smart00410
      Location:62 → 143
      IG_like; Immunoglobulin like
      cd00063
      Location:147 → 235
      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:262 → 351
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:71 → 143
      Ig; Immunoglobulin domain

    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_000069.7 Reference GRCm39 C57BL/6J

      Range
      108272227..108287373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5FW53.1 GenPept UniProtKB/Swiss-Prot:Q5FW53

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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