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    Mybph myosin binding protein H [ Mus musculus (house mouse) ]

    Gene ID: 53311, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mybphprovided by MGI
    Official Full Name
    myosin binding protein Hprovided by MGI
    Primary source
    MGI:MGI:1858196
    See related
    Ensembl:ENSMUSG00000042451 AllianceGenome:MGI:1858196
    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
    MyBP-H
    Summary
    Predicted to be involved in sarcomere organization. Predicted to be located in myosin filament. Predicted to be active in M band. Is expressed in diaphragm; limb; skeletal musculature; and tail mesenchyme. Orthologous to human MYBPH (myosin binding protein H). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in adrenal adult (RPKM 27.1), limb E14.5 (RPKM 24.7) and 18 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mybph in Genome Data Viewer
    Location:
    1 E4; 1 58.15 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (134121159..134128975)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (134193418..134201237)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46158 Neighboring gene STARR-seq mESC enhancer starr_02318 Neighboring gene chitinase 3 like 1 Neighboring gene STARR-positive B cell enhancer ABC_E1561 Neighboring gene adenosine A1 receptor Neighboring gene predicted gene, 32221 Neighboring gene STARR-seq mESC enhancer starr_02321 Neighboring gene predicted gene, 24517 Neighboring gene myogenin promoter-associated myogenic regulatory antisense lncRNA

    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. Klf5 regulates muscle differentiation by directly targeting muscle-specific genes in cooperation with MyoD in mice. Hayashi S, et al. Elife, 2016 Oct 15. PMID 27743478, Free PMC Article
    2. Extraocular muscle morphogenesis and gene expression are regulated by Pitx2 gene dose. Diehl AG, et al. Invest Ophthalmol Vis Sci, 2006 May. PMID 16638982
    3. The Chromatin Remodeling Complex Chd4/NuRD Controls Striated Muscle Identity and Metabolic Homeostasis. Gómez-Del Arco P, et al. Cell Metab, 2016 May 10. PMID 27166947
    4. Identification of atrogin-1-targeted proteins during the myostatin-induced skeletal muscle wasting. Lokireddy S, et al. Am J Physiol Cell Physiol, 2012 Sep 1. PMID 22673621
    5. Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function. Zhang T, et al. Sci Rep, 2017 Apr 5. PMID 28378742, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC144854, MGC144855

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in cell adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intracellular membraneless organelle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in myosin filament IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    myosin-binding protein H
    Names
    H-protein

    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_001357515.1 → NP_001344444.1  myosin-binding protein H

      Status: VALIDATED

      Source sequence(s)
      AC137104
      Consensus CDS
      CCDS35713.1
      UniProtKB/Swiss-Prot
      E9QKH7, P70402
      UniProtKB/TrEMBL
      Q148P3
      Conserved Domains (3) summary
      cd00063
      Location:77 → 163
      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:388 → 477
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:197 → 269
      Ig; Immunoglobulin domain

    2. NM_016749.2 → NP_058029.2  myosin-binding protein H

      See identical proteins and their annotated locations for NP_058029.2

      Status: VALIDATED

      Source sequence(s)
      AA673795, CB587371, U68267
      Consensus CDS
      CCDS35713.1
      UniProtKB/Swiss-Prot
      E9QKH7, P70402
      UniProtKB/TrEMBL
      Q148P3
      Related
      ENSMUSP00000042195.7, ENSMUST00000038445.13
      Conserved Domains (3) summary
      cd00063
      Location:77 → 163
      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:388 → 477
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:197 → 269
      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_000067.7 Reference GRCm39 C57BL/6J

      Range
      134121159..134128975
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006529753.4 → XP_006529816.1  myosin-binding protein H isoform X1

      UniProtKB/TrEMBL
      Q148P3
      Conserved Domains (3) summary
      cd00063
      Location:77 → 163
      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:388 → 477
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:197 → 269
      Ig; Immunoglobulin domain

    RNA

    1. XR_003956241.2 RNA Sequence

    2. XR_003956240.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P70402.2 GenPept UniProtKB/Swiss-Prot:P70402

    Gene LinkOut

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

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