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    Dysf dysferlin [ Rattus norvegicus (Norway rat) ]

    Gene ID: 312492, updated on 14-Nov-2024

    Summary

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    Official Symbol
    Dysfprovided by RGD
    Official Full Name
    dysferlinprovided by RGD
    Primary source
    RGD:1311023
    See related
    EnsemblRapid:ENSRNOG00000032788 AllianceGenome:RGD:1311023
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable calcium ion binding activity; calcium-dependent phospholipid binding activity; and tubulin binding activity. Predicted to be involved in T-tubule organization; plasma membrane repair; and vesicle fusion. Predicted to act upstream of or within several processes, including myeloid cell activation involved in immune response; negative regulation of macromolecule metabolic process; and regulation of calcium ion transport. Located in cytoplasm. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal myopathy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Muscle (RPKM 214.9), Heart (RPKM 160.1) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Dysf in Genome Data Viewer
    Location:
    4q34
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (118048460..118248273)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (116490877..116690709)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (115700942..115901873)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene zinc finger protein 638 Neighboring gene U4 spliceosomal RNA Neighboring gene small nucleolar RNA SNORA5 Neighboring gene 60S ribosomal protein L31 pseudogene Neighboring gene cytochrome P450, family 26, subfamily b, polypeptide 1

    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
    • 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. Comparative proteomics reveals abnormal binding of ATGL and dysferlin on lipid droplets from pressure overload-induced dysfunctional rat hearts. Li L, et al. Sci Rep, 2016 Jan 22. PMID 26795240, Free PMC Article
    2. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Liu J, et al. Nat Genet, 1998 Sep. PMID 9731526
    3. Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system. Hofhuis J, et al. Europace, 2020 Jul 1. PMID 32572487
    4. Defective membrane repair in dysferlin-deficient muscular dystrophy. Bansal D, et al. Nature, 2003 May 8. PMID 12736685
    5. Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. Klinge L, et al. Muscle Nerve, 2010 Feb. PMID 20082313

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system.
      Title: Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system.
    2. These findings highlight an association between the altered lipid droplets protein localization of dysferlin and ATGL and myocardial dysfunction.
      Title: Comparative proteomics reveals abnormal binding of ATGL and dysferlin on lipid droplets from pressure overload-induced dysfunctional rat hearts.
    3. dysferlin-containing vesicles are transported along microtubles via kinesin heavy chain isoform KIF5B, and undergo rapid microtubule- and KIF5B-dependent fusion to form extremely large vesicles following cellular wounding in skeletal muscle cells.
      Title: Membrane damage-induced vesicle-vesicle fusion of dysferlin-containing vesicles in muscle cells requires microtubules and kinesin.
    4. Data suggest dysferlin has an important function in the internal membrane systems of skeletal muscle, involved in calcium homeostasis and excitation-contraction coupling.
      Title: Unmasking potential intracellular roles for dysferlin through improved immunolabeling methods.
    5. Dysferlin is necessary for correct T-tubule formation, and dysferlin-deficient skeletal muscle is characterized by abnormally configured T-tubules.
      Title: Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables alpha-tubulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium-dependent phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    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 angiogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cellular response to osmotic stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within glycerol metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within lipid storage ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within macrophage activation involved in immune response 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 monocyte activation involved in immune response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within muscle cell development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of high voltage-gated calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of phagocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in plasma membrane repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within plasma membrane repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in plasma membrane repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of cell adhesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of endothelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within positive regulation of neutrophil chemotaxis ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of protein polyubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of calcium ion import ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal muscle tissue regeneration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in T-tubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in T-tubule 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 cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    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 early endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endocytic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lamellipodium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane microdomain ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    dysferlin

    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_001107869.1 → NP_001101339.1  dysferlin

      See identical proteins and their annotated locations for NP_001101339.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473957
      UniProtKB/TrEMBL
      A0A8I5ZVI7, A6IAQ5, D4A6X1
      Related
      ENSRNOP00000061606.2, ENSRNOT00000064536.4
      Conserved Domains (11) summary
      cd04011
      Location:167 → 276
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1101 → 1229
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:330 → 503
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1528 → 1651
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1762 → 1893
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:895 → 951
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:736 → 808
      FerB; FerB (NUC096) domain
      pfam08151
      Location:274 → 324
      FerI; FerI (NUC094) domain
      pfam08165
      Location:647 → 704
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1906 → 1992
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:31 → 81
      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_086022.1 Reference GRCr8

      Range
      118048460..118248273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017592630.3 → XP_017448119.1  dysferlin isoform X2

      UniProtKB/TrEMBL
      A0A8I6GM91
      Related
      ENSRNOP00000097863.1, ENSRNOT00000106282.2

    2. XM_006236765.5 → XP_006236827.1  dysferlin isoform X11

      UniProtKB/TrEMBL
      A0A8I5ZVI7, A0A8I6GEZ7
      Related
      ENSRNOP00000087285.1, ENSRNOT00000117268.2
      Conserved Domains (11) summary
      cd04011
      Location:250 → 359
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1184 → 1312
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:413 → 586
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1611 → 1734
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1845 → 1976
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:978 → 1034
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:819 → 891
      FerB; FerB (NUC096) domain
      pfam08151
      Location:357 → 407
      FerI; FerI (NUC094) domain
      pfam08165
      Location:730 → 787
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1989 → 2075
      Ferlin_C; Ferlin C-terminus

    3. XM_006236761.5 → XP_006236823.1  dysferlin isoform X7

      UniProtKB/TrEMBL
      A0A8I5ZKQ3, A0A8I6GM91
      Conserved Domains (11) summary
      cd04011
      Location:250 → 359
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1171 → 1299
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:413 → 573
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1619 → 1742
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1853 → 1984
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:965 → 1021
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:806 → 878
      FerB; FerB (NUC096) domain
      pfam08151
      Location:357 → 407
      FerI; FerI (NUC094) domain
      pfam08165
      Location:717 → 774
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1997 → 2083
      Ferlin_C; Ferlin C-terminus

    4. XM_006236769.5 → XP_006236831.1  dysferlin isoform X15

      UniProtKB/TrEMBL
      A0A8I5ZVI7
      Related
      ENSRNOP00000078253.2, ENSRNOT00000120244.2
      Conserved Domains (11) summary
      cd04011
      Location:250 → 359
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1171 → 1299
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:413 → 573
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1598 → 1721
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1832 → 1963
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:965 → 1021
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:806 → 878
      FerB; FerB (NUC096) domain
      pfam08151
      Location:357 → 407
      FerI; FerI (NUC094) domain
      pfam08165
      Location:717 → 774
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1976 → 2062
      Ferlin_C; Ferlin C-terminus

    5. XM_017592634.3 → XP_017448123.1  dysferlin isoform X9

      UniProtKB/TrEMBL
      A0A8I6GM91

    6. XM_006236767.5 → XP_006236829.1  dysferlin isoform X13

      UniProtKB/TrEMBL
      A0A8I5Y164, A0A8I6GM91
      Conserved Domains (11) summary
      cd04011
      Location:219 → 328
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1153 → 1281
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:382 → 555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1601 → 1724
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1835 → 1966
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:788 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:326 → 376
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699 → 756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1979 → 2065
      Ferlin_C; Ferlin C-terminus

    7. XM_006236773.5 → XP_006236835.1  dysferlin isoform X20

      UniProtKB/TrEMBL
      A0A8I5ZVI7
      Conserved Domains (11) summary
      cd04011
      Location:219 → 328
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1153 → 1281
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:382 → 555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1580 → 1703
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1814 → 1945
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:788 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:326 → 376
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699 → 756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1958 → 2044
      Ferlin_C; Ferlin C-terminus

    8. XM_006236771.5 → XP_006236833.1  dysferlin isoform X18

      UniProtKB/TrEMBL
      A0A8I6GM91
      Conserved Domains (11) summary
      cd04011
      Location:219 → 328
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1140 → 1268
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:382 → 542
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1588 → 1711
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1822 → 1953
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:934 → 990
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:775 → 847
      FerB; FerB (NUC096) domain
      pfam08151
      Location:326 → 376
      FerI; FerI (NUC094) domain
      pfam08165
      Location:686 → 743
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1966 → 2052
      Ferlin_C; Ferlin C-terminus

    9. XM_006236775.4 → XP_006236837.1  dysferlin isoform X22

      UniProtKB/TrEMBL
      A0A8I5ZVI7
      Conserved Domains (11) summary
      cd04011
      Location:219 → 328
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1140 → 1268
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:382 → 542
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1567 → 1690
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1801 → 1932
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:934 → 990
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:775 → 847
      FerB; FerB (NUC096) domain
      pfam08151
      Location:326 → 376
      FerI; FerI (NUC094) domain
      pfam08165
      Location:686 → 743
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1945 → 2031
      Ferlin_C; Ferlin C-terminus

    10. XM_006236760.5 → XP_006236822.1  dysferlin isoform X6

      UniProtKB/TrEMBL
      A0A8I6GM91
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1172 → 1300
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 574
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1620 → 1743
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1854 → 1985
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:966 → 1022
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:807 → 879
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:718 → 775
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1998 → 2084
      Ferlin_C; Ferlin C-terminus

    11. XM_063286062.1 → XP_063142132.1  dysferlin isoform X23

    12. XM_017592629.3 → XP_017448118.1  dysferlin isoform X1

      UniProtKB/TrEMBL
      A0A8I6GM91

    13. XM_017592631.3 → XP_017448120.1  dysferlin isoform X3

      UniProtKB/TrEMBL
      A0A8I6GM91

    14. XM_017592633.3 → XP_017448122.1  dysferlin isoform X8

      UniProtKB/TrEMBL
      A0A8I6GM91

    15. XM_017592632.3 → XP_017448121.1  dysferlin isoform X5

      UniProtKB/TrEMBL
      A0A8I5ZVI7

    16. XM_006236758.5 → XP_006236820.1  dysferlin isoform X4

      UniProtKB/TrEMBL
      A0A0G2K7B6, A0A8I6GM91
      Related
      ENSRNOP00000074138.1, ENSRNOT00000085765.3
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1185 → 1313
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 587
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1633 → 1756
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1867 → 1998
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:979 → 1035
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:820 → 892
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:731 → 788
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2011 → 2097
      Ferlin_C; Ferlin C-terminus

    17. XM_006236764.5 → XP_006236826.1  dysferlin isoform X10

      UniProtKB/TrEMBL
      A0A8I5ZVI7
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1185 → 1313
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 587
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1612 → 1735
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1846 → 1977
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:979 → 1035
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:820 → 892
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:731 → 788
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1990 → 2076
      Ferlin_C; Ferlin C-terminus

    18. XM_006236768.5 → XP_006236830.1  dysferlin isoform X14

      UniProtKB/TrEMBL
      A0A8I5ZVI7
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1172 → 1300
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 574
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1599 → 1722
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1833 → 1964
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:966 → 1022
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:807 → 879
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:718 → 775
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1977 → 2063
      Ferlin_C; Ferlin C-terminus

    19. XM_063286061.1 → XP_063142131.1  dysferlin isoform X16

    20. XM_006236766.5 → XP_006236828.1  dysferlin isoform X12

      UniProtKB/TrEMBL
      A0A8I6GM91
      Conserved Domains (11) summary
      cd04011
      Location:220 → 329
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1154 → 1282
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:383 → 556
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1602 → 1725
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1836 → 1967
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:948 → 1004
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:789 → 861
      FerB; FerB (NUC096) domain
      pfam08151
      Location:327 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:700 → 757
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1980 → 2066
      Ferlin_C; Ferlin C-terminus

    21. XM_006236772.5 → XP_006236834.1  dysferlin isoform X19

      UniProtKB/TrEMBL
      A0A8I5ZVI7
      Conserved Domains (11) summary
      cd04011
      Location:220 → 329
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1154 → 1282
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:383 → 556
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1581 → 1704
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1815 → 1946
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:948 → 1004
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:789 → 861
      FerB; FerB (NUC096) domain
      pfam08151
      Location:327 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:700 → 757
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1959 → 2045
      Ferlin_C; Ferlin C-terminus

    22. XM_006236770.5 → XP_006236832.1  dysferlin isoform X17

      UniProtKB/TrEMBL
      A0A8I6GM91
      Conserved Domains (11) summary
      cd04011
      Location:220 → 329
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1141 → 1269
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:383 → 543
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1589 → 1712
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1823 → 1954
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:935 → 991
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:776 → 848
      FerB; FerB (NUC096) domain
      pfam08151
      Location:327 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:687 → 744
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1967 → 2053
      Ferlin_C; Ferlin C-terminus

    23. XM_006236774.5 → XP_006236836.1  dysferlin isoform X21

      UniProtKB/TrEMBL
      A0A8I5ZVI7
      Conserved Domains (11) summary
      cd04011
      Location:220 → 329
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1141 → 1269
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:383 → 543
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1568 → 1691
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1802 → 1933
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:935 → 991
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:776 → 848
      FerB; FerB (NUC096) domain
      pfam08151
      Location:327 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:687 → 744
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1946 → 2032
      Ferlin_C; Ferlin C-terminus

    24. XM_063286063.1 → XP_063142133.1  dysferlin isoform X24

    Nucleotide Protein Strain
    Heading Accession and Version

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