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    desma desmin a [ Danio rerio (zebrafish) ]

    Gene ID: 30148, updated on 14-Nov-2024

    Summary

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    Official Symbol
    desmaprovided by ZNC
    Official Full Name
    desmin aprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-980526-221
    See related
    Ensembl:ENSDARG00000058656 AllianceGenome:ZFIN:ZDB-GENE-980526-221
    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
    des; desm; cb290; wu:fb59a12; zgc:109859
    Summary
    Acts upstream of or within several processes, including regulation of calcium ion transport into cytosol; regulation of cardiac muscle contraction by calcium ion signaling; and sarcomere organization. Located in Z disc. Is expressed in several structures, including cardiovascular system; mesoderm; musculature system; pectoral fin; and somite. Used to study myofibrillar myopathy 1. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See desma in Genome Data Viewer
    Location:
    chromosome: 9
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 9 NC_007120.7 (7515864..7539326, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 9 NC_007120.6 (7537473..7560935, complement)

    Chromosome 9 - NC_007120.7Genomic Context describing neighboring genes Neighboring gene myc box-dependent-interacting protein 1 Neighboring gene transmembrane protein 198aa Neighboring gene protein tyrosine phosphatase receptor type Na Neighboring gene microRNA 153c Neighboring gene DnaJ heat shock protein family (Hsp40) member B2

    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. Some distinctive features of zebrafish myogenesis based on unexpected distributions of the muscle cytoskeletal proteins actin, myosin, desmin, alpha-actinin, troponin and titin. Costa ML, et al. Mech Dev, 2002 Aug. PMID 12128209
    2. Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscle. Li M, et al. J Gen Physiol, 2013 Mar. PMID 23440276, Free PMC Article
    3. Hsp27 associates with the titin filament system in heat-shocked zebrafish cardiomyocytes. Tucker NR, et al. Exp Cell Res, 2009 Nov 1. PMID 19580808, Free PMC Article
    4. Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies. Ramspacher C, et al. Cell Rep, 2015 Jun 16. PMID 26051936
    5. Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux. Kayman Kürekçi G, et al. Sci Rep, 2021 Apr 5. PMID 33820917, Free PMC Article

    See all (57) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.
      Title: Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux.
    2. Desmin distribution during muscle maturation changes from dispersed aggregates to a perinuclear concentration to striated afterwards.
      Title: Some distinctive features of zebrafish myogenesis based on unexpected distributions of the muscle cytoskeletal proteins actin, myosin, desmin, alpha-actinin, troponin and titin.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC109859

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables structural constituent of cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within heart contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in intermediate filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle contraction IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within myofibril assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of calcium ion transport into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cardiac muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cardiac muscle contraction by calcium ion signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within sarcomere organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal muscle organ development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within skeletal muscle organ development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle tissue development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cell-cell junction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    desmin a

    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_001328376.1 → NP_001315305.1  desmin a isoform 2

      Status: VALIDATED

      Source sequence(s)
      CU861474, EH433465, EH459468, EH579828
      UniProtKB/TrEMBL
      A0A8M1PA74, F1R8W3
      Related
      ENSDARP00000075994.4, ENSDART00000081553.5
      Conserved Domains (3) summary
      pfam00038
      Location:101 → 409
      Filament; Intermediate filament protein
      pfam04732
      Location:15 → 100
      Filament_head; Intermediate filament head (DNA binding) region
      pfam08641
      Location:118 → 204
      Mis14; Kinetochore protein Mis14 like

    2. NM_130963.2 → NP_571038.2  desmin a isoform 1

      Status: VALIDATED

      Source sequence(s)
      CU861474, EH433465, EH459468, EH579828
      UniProtKB/TrEMBL
      A0A8N7UZE8, F1R8W4
      Related
      ENSDARP00000075991.4, ENSDART00000081550.6

    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_007120.7 Reference GRCz11 Primary Assembly

      Range
      7515864..7539326 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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