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    myof myoferlin [ Danio rerio (zebrafish) ]

    Gene ID: 393849, updated on 2-Nov-2024

    Summary

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    Official Symbol
    myofprovided by ZNC
    Official Full Name
    myoferlinprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-040426-1138
    See related
    Ensembl:ENSDARG00000006112 AllianceGenome:ZFIN:ZDB-GENE-040426-1138
    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
    zgc:63504
    Summary
    Predicted to enable metal ion binding activity. Predicted to be involved in T-tubule organization; membrane fusion; and plasma membrane repair. Predicted to be located in cytoplasmic vesicle membrane and plasma membrane. Used to study limb-girdle muscular dystrophy. Human ortholog(s) of this gene implicated in hereditary angioedema. Orthologous to human MYOF (myoferlin). [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
    all
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    Genomic context

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    See myof in Genome Data Viewer
    Location:
    chromosome: 12
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 12 NC_007123.7 (10517473..10567189, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 12 NC_007123.6 (10479630..10529393, complement)

    Chromosome 12 - NC_007123.7Genomic Context describing neighboring genes Neighboring gene Rac family small GTPase 1a Neighboring gene Sad1 and UNC84 domain containing 1a Neighboring gene leucine rich repeat containing 3Ca Neighboring gene colony stimulating factor 3 (granulocyte) a

    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. Characterization of zebrafish dysferlin by morpholino knockdown. Kawahara G, et al. Biochem Biophys Res Commun, 2011 Sep 23. PMID 21893049, Free PMC Article
    2. Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy. Kiselev A, et al. Front Genet, 2019. PMID 31297131, Free PMC Article
    3. Fer1l6 is essential for the development of vertebrate muscle tissue in zebrafish. Bonventre JA, et al. Mol Biol Cell, 2019 Feb 1. PMID 30516436, Free PMC Article
    4. Gene expression profiling of zebrafish embryonic retinal pigment epithelium in vivo. Leung YF, et al. Invest Ophthalmol Vis Sci, 2007 Feb. PMID 17251491, Free PMC Article
    5. Contrasted innate responses to two viruses in zebrafish: insights into the ancestral repertoire of vertebrate IFN-stimulated genes. Briolat V, et al. J Immunol, 2014 May 1. PMID 24683187

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC63504

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in T-tubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in membrane fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle membrane 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
    		  

    General protein information

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    Preferred Names
    myoferlin

    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_200875.2 → NP_957169.2  myoferlin

      Status: VALIDATED

      Source sequence(s)
      CR388227
      UniProtKB/TrEMBL
      A0A8M1PDL4, F1QZG1
      Related
      ENSDARP00000117746.1, ENSDART00000144283.3
      Conserved Domains (12) summary
      cd04011
      Location:187 → 296
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1108 → 1242
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:350 → 513
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1524 → 1647
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:6 → 136
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1760 → 1891
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:837 → 892
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:747 → 819
      FerB; FerB (NUC096) domain
      pfam08151
      Location:294 → 344
      FerI; FerI (NUC094) domain
      pfam08165
      Location:657 → 715
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1908 → 1994
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1290 → 1373
      C2; C2 domain

    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_007123.7 Reference GRCz11 Primary Assembly

      Range
      10517473..10567189 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068224535.1 → XP_068080636.1  myoferlin isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version

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