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    Des desmin [ Mus musculus (house mouse) ]

    Gene ID: 13346, updated on 19-Oct-2021

    Summary

    Official Symbol
    Desprovided by MGI
    Official Full Name
    desminprovided by MGI
    Primary source
    MGI:MGI:94885
    See related
    Ensembl:ENSMUSG00000026208
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane and are essential for maintaining the strength and integrity of skeletal, cardiac and smooth muscle fibers. Mutations in this gene affect assembly of intermediate filaments. Mice lacking this gene are able to develop and reproduce but exhibit abnormal muscle fibers. Mutations in the human gene are associated with myofibrillar myopathy, dilated cardiomyopathy, neurogenic scapuloperoneal syndrome and autosomal recessive limb-girdle muscular dystrophy, type 2R. [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in bladder adult (RPKM 808.0), stomach adult (RPKM 385.6) and 10 other tissues See more
    Orthologs
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    Genomic context

    See Des in Genome Data Viewer
    Location:
    1 C4; 1 38.85 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (75336936..75345223)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (75360292..75368579)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 1 NC_000067.5 (75356919..75364291)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm1372 Neighboring gene aspartyl aminopeptidase Neighboring gene desmin upstream regulatory region Neighboring gene predicted gene 15179 Neighboring gene SPEG complex locus Neighboring gene GDP-mannose pyrophosphorylase A Neighboring gene predicted gene, 53564

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytoskeletal protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intermediate filament organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in Z disc ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cardiac myofibril ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in contractile fiber IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in fascia adherens IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in gap junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intercalated disc ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intermediate filament cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    located_in type III intermediate filament ISO
    Inferred from Sequence Orthology
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_010043.2NP_034173.1  desmin

      See identical proteins and their annotated locations for NP_034173.1

      Status: REVIEWED

      Source sequence(s)
      AC166150, AK132391
      Consensus CDS
      CCDS15071.1
      UniProtKB/Swiss-Prot
      P31001
      UniProtKB/TrEMBL
      Q3V1K9
      Related
      ENSMUSP00000027409.10, ENSMUST00000027409.10
      Conserved Domains (2) summary
      pfam00038
      Location:106414
      Filament; Intermediate filament protein
      pfam04732
      Location:9105
      Filament_head; Intermediate filament head (DNA binding) region

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      75336936..75345223
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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