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desma desmin a [ Danio rerio (zebrafish) ]

Gene ID: 30148, updated on 17-Aug-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 heart contraction; regulation of cardiac muscle contraction by calcium ion signaling; and sarcomere organization. Located in Z disc. Is expressed in several structures, including cardiovascular system; hindbrain neural plate; mesoderm; musculature system; and pectoral fin. 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, Apr 2022]
Orthologs
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Genomic context

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Location:
chromosome: 9
Exon count:
10
Annotation release Status Assembly Chr Location
106 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-like 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 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. 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
  2. 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
  3. 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
  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. 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

See all (53) 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

Process Evidence Code Pubs
acts_upstream_of_or_within heart contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
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: Danio rerio Annotation Release 106 details...Open this link in a new tab

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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