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Myof myoferlin [ Rattus norvegicus (Norway rat) ]

Gene ID: 309499, updated on 28-Oct-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, Oct 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

Expression

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  • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
  • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
  • BioProject: PRJNA238328
  • Publication: PMID 24510058
  • Analysis date: Mon Jun 6 17:44:12 2016

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

  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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