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    Mypn myopalladin [ Mus musculus (house mouse) ]

    Gene ID: 68802, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mypnprovided by MGI
    Official Full Name
    myopalladinprovided by MGI
    Primary source
    MGI:MGI:1916052
    See related
    Ensembl:ENSMUSG00000020067 AllianceGenome:MGI:1916052
    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
    mKIAA4170; 9830112J03; 1110056A04Rik
    Summary
    Predicted to enable SH3 domain binding activity; cell-cell adhesion mediator activity; and muscle alpha-actinin binding activity. Predicted to be involved in homophilic cell adhesion via plasma membrane adhesion molecules; neuron development; and sarcomere organization. Located in I band. Colocalizes with Z disc. Is expressed in several structures, including diaphragm; eye; heart; liver; and skeletal musculature. Used to study nemaline myopathy 11 and restrictive cardiomyopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 1KK and nemaline myopathy 11. Orthologous to human MYPN (myopalladin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart adult (RPKM 12.4), mammary gland adult (RPKM 2.4) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mypn in Genome Data Viewer
    Location:
    10 B4; 10 32.54 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (62951574..63039731, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (63115795..63203952, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene phenazine biosynthesis-like protein domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_26919 Neighboring gene atonal bHLH transcription factor 7 Neighboring gene STARR-seq mESC enhancer starr_26921 Neighboring gene STARR-seq mESC enhancer starr_26922 Neighboring gene STARR-seq mESC enhancer starr_26924 Neighboring gene STARR-seq mESC enhancer starr_26926 Neighboring gene RIKEN cDNA 1700120B22 gene Neighboring gene hect domain and RLD 4 Neighboring gene predicted gene, 51767

    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 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. Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overload. Filomena MC, et al. Elife, 2021 Sep 24. PMID 34558411, Free PMC Article
    2. Myopalladin promotes muscle growth through modulation of the serum response factor pathway. Filomena MC, et al. J Cachexia Sarcopenia Muscle, 2020 Feb. PMID 31647200, Free PMC Article
    3. Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. Huby AC, et al. J Am Coll Cardiol, 2014 Dec 30. PMID 25541130, Free PMC Article
    4. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Miyatake S, et al. Am J Hum Genet, 2017 Jan 5. PMID 28017374, Free PMC Article
    5. Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. Ghiasvand NM, et al. Nat Neurosci, 2011 May. PMID 21441919, Free PMC Article

    See all (28) 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 (2) 
    • Targeted (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA4170

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cell-cell adhesion mediator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytoskeletal protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables muscle alpha-actinin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in dendrite self-avoidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sarcomere organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in I band IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in I band ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    myopalladin

    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_182992.2 → NP_892037.2  myopalladin

      See identical proteins and their annotated locations for NP_892037.2

      Status: VALIDATED

      Source sequence(s)
      AC155909
      Consensus CDS
      CCDS48584.1
      UniProtKB/Swiss-Prot
      Q5DTJ9, Q7TPW5, Q8BZ76
      Related
      ENSMUSP00000093240.3, ENSMUST00000095580.3
      Conserved Domains (3) summary
      cd00096
      Location:1086 → 1155
      Ig; Immunoglobulin domain
      pfam07679
      Location:1068 → 1158
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:1184 → 1258
      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_000076.7 Reference GRCm39 C57BL/6J

      Range
      62951574..63039731 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5DTJ9.2 GenPept UniProtKB/Swiss-Prot:Q5DTJ9

    Gene LinkOut

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

    Other Literature Sources
    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools