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    Myof myoferlin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 309499, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Myofprovided by RGD
    Official Full Name
    myoferlinprovided by RGD
    Primary source
    RGD:1564216
    See related
    EnsemblRapid:ENSRNOG00000016117 AllianceGenome:RGD:1564216
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Fer1l3; RGD1564216
    Summary
    Predicted to enable phospholipid binding activity. Predicted to be involved in membrane fusion; plasma membrane organization; and regulation of vascular endothelial growth factor receptor signaling pathway. Predicted to act upstream of or within cellular response to heat; glycerol metabolic process; and muscle cell development. Predicted to be located in caveola; centriolar satellite; and cytoplasmic vesicle. Predicted to be active in plasma membrane. Human ortholog(s) of this gene implicated in hereditary angioedema. Orthologous to human MYOF (myoferlin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Lung (RPKM 207.5), Kidney (RPKM 136.9) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Myof in Genome Data Viewer
    Location:
    1q53
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (245086109..245234768, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (235673666..235822413, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (256585410..256734727, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene cytochrome P450, family 26, subfamily a, polypeptide 1 Neighboring gene ribosomal protein S12 like 6 Neighboring gene uncharacterized LOC134483992 Neighboring gene uncharacterized LOC100911555 Neighboring gene uncharacterized LOC108349463 Neighboring gene centrosomal protein 55

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. Demonbreun AR, et al. Am J Pathol, 2014 Jan. PMID 24177035, Free PMC Article
    2. Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. Davis DB, et al. J Biol Chem, 2002 Jun 21. PMID 11959863
    3. Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. Bernatchez PN, et al. J Biol Chem, 2007 Oct 19. PMID 17702744
    4. Analysis of HSF4 binding regions reveals its necessity for gene regulation during development and heat shock response in mouse lenses. Fujimoto M, et al. J Biol Chem, 2008 Oct 31. PMID 18755693, Free PMC Article
    5. Protein profile of exosomes from trabecular meshwork cells. Stamer WD, et al. J Proteomics, 2011 May 16. PMID 21362503, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in T-tubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within T-tubule organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cellular response to heat ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within glycerol metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in membrane fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within muscle cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in plasma membrane repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in plasma membrane repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of vascular endothelial growth factor receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in caveola ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    myoferlin
    Names
    fer-1-like 3, 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_001354115.1 → NP_001341044.1  myoferlin

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      D4ACN7
      Related
      ENSRNOP00000079914.1, ENSRNOT00000115400.2
      Conserved Domains (12) summary
      cd04011
      Location:196 → 305
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1126 → 1259
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:359 → 522
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1541 → 1664
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 136
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1777 → 1908
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:914 → 970
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:756 → 828
      FerB; FerB (NUC096) domain
      pfam08151
      Location:303 → 353
      FerI; FerI (NUC094) domain
      pfam08165
      Location:667 → 724
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1924 → 2043
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1314 → 1382
      C2; C2 domain

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      245086109..245234768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006231325.5 → XP_006231387.1  myoferlin isoform X1

      UniProtKB/TrEMBL
      A0A0G2K695, D4ACN7
      Related
      ENSRNOP00000073727.1, ENSRNOT00000089456.3
      Conserved Domains (12) summary
      cd04011
      Location:196 → 305
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1139 → 1272
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:359 → 535
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1554 → 1677
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 136
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1790 → 1921
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:927 → 983
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:769 → 841
      FerB; FerB (NUC096) domain
      pfam08151
      Location:303 → 353
      FerI; FerI (NUC094) domain
      pfam08165
      Location:680 → 737
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1937 → 2025
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1327 → 1395
      C2; C2 domain

    2. XM_063265126.1 → XP_063121196.1  myoferlin isoform X2

      UniProtKB/TrEMBL
      D4ACN7

    3. XM_063265133.1 → XP_063121203.1  myoferlin isoform X4

    4. XM_063265130.1 → XP_063121200.1  myoferlin isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001191636.1: Suppressed sequence

      Description
      NM_001191636.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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