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    Dysf dysferlin [ Mus musculus (house mouse) ]

    Gene ID: 26903, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Dysfprovided by MGI
    Official Full Name
    dysferlinprovided by MGI
    Primary source
    MGI:MGI:1349385
    See related
    Ensembl:ENSMUSG00000033788 AllianceGenome:MGI:1349385
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D6Pas3; 2310004N10Rik
    Summary
    Enables alpha-tubulin binding activity and microtubule binding activity. Involved in vesicle fusion. Acts upstream of or within several processes, including myeloid cell activation involved in immune response; negative regulation of macromolecule metabolic process; and plasma membrane organization. Located in several cellular components, including T-tubule; lamellipodium; and microtubule. Is expressed in heart ventricle. Used to study autosomal recessive limb-girdle muscular dystrophy type 2B and distal myopathy. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal muscular dystrophy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in genital fat pad adult (RPKM 9.2), heart adult (RPKM 8.9) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    6 C3; 6 36.14 cM
    Exon count:
    64
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (83985344..84188042)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (84008361..84211060)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E8111 Neighboring gene STARR-seq mESC enhancer starr_16471 Neighboring gene ribosomal protein S8 pseudogene Neighboring gene zinc finger protein 638 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_16475 Neighboring gene predicted gene, 33024 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:84045049-84045232 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:84097670-84097919 Neighboring gene STARR-seq mESC enhancer starr_16479 Neighboring gene STARR-seq mESC enhancer starr_16480 Neighboring gene STARR-seq mESC enhancer starr_16481 Neighboring gene STARR-seq mESC enhancer starr_16482 Neighboring gene predicted gene 10445 Neighboring gene predicted gene, 38845

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice. Yasa J, et al. Acta Neuropathol Commun, 2023 Jan 18. PMID 36653852, Free PMC Article
    2. Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins. Lloyd EM, et al. Int J Mol Sci, 2022 Dec 21. PMID 36613515, Free PMC Article
    3. Inhibition of the immunoproteasome modulates innate immunity to ameliorate muscle pathology of dysferlin-deficient BlAJ mice. Farini A, et al. Cell Death Dis, 2022 Nov 19. PMID 36402750, Free PMC Article
    4. Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis. Chernova ON, et al. Ultrastruct Pathol, 2022 Jul 4. PMID 35880824
    5. 4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations. Tominaga K, et al. iScience, 2022 Jan 21. PMID 35028538, Free PMC Article

    See all (156) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.
      Title: Minimal expression of dysferlin prevents development of dysferlinopathy in dysferlin exon 40a knockout mice.
    2. Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins.
      Title: Dysferlin Deficiency Results in Myofiber-Type Specific Differences in Abundances of Calcium-Handling and Glycogen Metabolism Proteins.
    3. Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis.
      Title: Structural and ultrastructural changes in the skeletal muscles of dysferlin-deficient mice during postnatal ontogenesis.
    4. Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle.
      Title: Loss of dysferlin or myoferlin results in differential defects in excitation-contraction coupling in mouse skeletal muscle.
    5. 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.
    6. Sarcolemma wounding activates dynamin-dependent endocytosis in striated muscle.
      Title: Sarcolemma wounding activates dynamin-dependent endocytosis in striated muscle.
    7. Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRalpha.
      Title: Dysferlin-deficient myotubes show tethering of different membrane compartments characterized by TMEM16E and DHPRα.
    8. Ischemia reperfusion injury provokes adverse left ventricular remodeling in dysferlin-deficient hearts through a pathway that involves TIRAP dependent signaling.
      Title: Ischemia reperfusion injury provokes adverse left ventricular remodeling in dysferlin-deficient hearts through a pathway that involves TIRAP dependent signaling.
    9. These observations indicate that an early manifestation of dysferlin deficiency is the reprogramming of skeletal muscle and adipose tissue lipid metabolism, which is likely to contribute to the progressive adverse histopathology in dysferlinopathies.
      Title: Dysferlin deficiency alters lipid metabolism and remodels the skeletal muscle lipidome in mice.
    10. lipid accumulation in skeletal muscle in dysferlin-deficient mice
      Title: Insights into lipid accumulation in skeletal muscle in dysferlin-deficient mice.
    Submit: New GeneRIF Correction See all GeneRIFs (65)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ00175

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-tubulin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables alpha-tubulin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables calcium ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables calcium-dependent phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within T-tubule organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cellular response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cytokine production IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within glycerol metabolic process IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within glycerol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lipid storage IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in macrophage activation involved in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within macrophage activation involved in immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within macrophage activation involved in immune response ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in monocyte activation involved in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within monocyte activation involved in immune response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within monocyte activation involved in immune response ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle cell development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within myotube differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of high voltage-gated calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of microtubule depolymerization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of phagocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of phagocytosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of phagocytosis ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of protein binding IMP
    Inferred from Mutant Phenotype
    more info
    		  
    acts_upstream_of_or_within negative regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of protein polyubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of tubulin deacetylation IMP
    Inferred from Mutant Phenotype
    more info
    		  
    acts_upstream_of_or_within negative regulation of tubulin deacetylation 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in plasma membrane repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of neutrophil chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of protein polyubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of calcium ion import IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle tissue development IDA
    Inferred from Direct Assay
    more info
    		  
    acts_upstream_of_or_within skeletal muscle tissue development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within skeletal muscle tissue regeneration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in T-tubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in T-tubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasmic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in late endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane microdomain IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    dysferlin
    Names
    dysferlin_a
    dystrophy-associated fer-1-like protein
    fer-1-like protein 1

    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_001077694.2 → NP_001071162.1  dysferlin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and differs in the 5' UTR and the 5' coding region, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC153607, AK131144, BQ831003
      Consensus CDS
      CCDS39535.1
      UniProtKB/TrEMBL
      A0A0N4SWG7, E9Q423
      Related
      ENSMUSP00000109454.2, ENSMUST00000113823.8
      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

    2. NM_001310152.1 → NP_001297081.1  dysferlin isoform 3

      See identical proteins and their annotated locations for NP_001297081.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to exon 1. It encodes isoform 3, which lacks an internal segment and is shorter, compared to isoform 1.
      Source sequence(s)
      AK131144, CN716462
      Consensus CDS
      CCDS85081.1
      UniProtKB/Swiss-Prot
      Q6KAR3, Q80VT0, Q9ESD7, Q9QXC0
      Related
      ENSMUSP00000109449.2, ENSMUST00000113818.8
      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

    3. NM_001403655.1 → NP_001390584.1  dysferlin isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC153607, AC153608
      Related
      ENSMUSP00000145511.2, ENSMUST00000203803.3

    4. NM_001403656.1 → NP_001390585.1  dysferlin isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC153607, AC153608
      UniProtKB/TrEMBL
      E9QL12
      Related
      ENSMUSP00000109452.2, ENSMUST00000113821.8

    5. NM_001403657.1 → NP_001390586.1  dysferlin isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC153607, AC153608
      UniProtKB/TrEMBL
      E9PXU9
      Related
      ENSMUSP00000087022.6, ENSMUST00000089595.12

    6. NM_001403658.1 → NP_001390587.1  dysferlin isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC153607, AC153608
      UniProtKB/TrEMBL
      A0A0N4SUJ2
      Related
      ENSMUSP00000144705.2, ENSMUST00000204354.3

    7. NM_021469.4 → NP_067444.2  dysferlin isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC153607, AC153608
      Consensus CDS
      CCDS39536.1
      UniProtKB/TrEMBL
      A0A0N4SWG7
      Related
      ENSMUSP00000080579.7, ENSMUST00000081904.7
      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

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      83985344..84188042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506164.5 → XP_006506227.1  dysferlin isoform X2

      UniProtKB/TrEMBL
      A0A0N4SWG7
      Conserved Domains (11) summary
      cd04011
      Location:250 → 359
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1185 → 1313
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:413 → 587
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1653 → 1776
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1887 → 2018
      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:357 → 407
      FerI; FerI (NUC094) domain
      pfam08165
      Location:731 → 788
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2031 → 2118
      Ferlin_C; Ferlin C-terminus

    2. XM_006506171.5 → XP_006506234.1  dysferlin isoform X10

      UniProtKB/TrEMBL
      A0A0N4SV63, A0A0N4SWG7
      Related
      ENSMUSP00000144970.2, ENSMUST00000204591.3
      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 → 2084
      Ferlin_C; Ferlin C-terminus

    3. XM_006506175.5 → XP_006506238.1  dysferlin isoform X14

      UniProtKB/Swiss-Prot
      Q6KAR3, Q80VT0, Q9ESD7, Q9QXC0
      UniProtKB/TrEMBL
      A0A0N4SWH3
      Related
      ENSMUSP00000145518.2, ENSMUST00000153860.4
      Conserved Domains (11) summary
      cd04011
      Location:219 → 328
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1154 → 1282
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:382 → 556
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1602 → 1725
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 133
      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:326 → 376
      FerI; FerI (NUC094) domain
      pfam08165
      Location:700 → 757
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1980 → 2067
      Ferlin_C; Ferlin C-terminus

    4. XM_006506177.5 → XP_006506240.1  dysferlin isoform X16

      UniProtKB/Swiss-Prot
      Q6KAR3, Q80VT0, Q9ESD7, Q9QXC0
      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 → 2053
      Ferlin_C; Ferlin C-terminus

    5. XM_006506181.5 → XP_006506244.1  dysferlin isoform X19

      UniProtKB/Swiss-Prot
      Q6KAR3, Q80VT0, Q9ESD7, Q9QXC0
      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 → 2032
      Ferlin_C; Ferlin C-terminus

    6. XM_006506183.5 → XP_006506246.1  dysferlin isoform X21

      Conserved Domains (8) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain

    7. XM_006506182.4 → XP_006506245.1  dysferlin isoform X20

      Conserved Domains (8) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain

    8. XM_006506184.4 → XP_006506247.1  dysferlin isoform X22

      Conserved Domains (8) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain

    9. XM_006506163.3 → XP_006506226.1  dysferlin isoform X1

      UniProtKB/TrEMBL
      A0A0N4SWG7
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1654 → 1777
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1888 → 2019
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2032 → 2119
      Ferlin_C; Ferlin C-terminus

    10. XM_006506165.3 → XP_006506228.1  dysferlin isoform X3

      UniProtKB/TrEMBL
      A0A0N4SWG7
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1650 → 1773
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1884 → 2015
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2028 → 2115
      Ferlin_C; Ferlin C-terminus

    11. XM_006506168.3 → XP_006506231.1  dysferlin isoform X7

      UniProtKB/TrEMBL
      A0A0N4SWG7
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1629 → 1752
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1863 → 1994
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2007 → 2094
      Ferlin_C; Ferlin C-terminus

    12. XM_006506166.3 → XP_006506229.1  dysferlin isoform X4

      UniProtKB/TrEMBL
      A0A0N4SWG7
      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:1640 → 1763
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1874 → 2005
      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:2018 → 2105
      Ferlin_C; Ferlin C-terminus

    13. XM_006506169.3 → XP_006506232.1  dysferlin isoform X8

      UniProtKB/Swiss-Prot
      Q6KAR3, Q80VT0, Q9ESD7, Q9QXC0
      Conserved Domains (11) summary
      cd04011
      Location:220 → 329
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1155 → 1283
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:383 → 557
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1623 → 1746
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1857 → 1988
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:949 → 1005
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:790 → 862
      FerB; FerB (NUC096) domain
      pfam08151
      Location:327 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:701 → 758
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2001 → 2088
      Ferlin_C; Ferlin C-terminus

    14. XM_006506167.3 → XP_006506230.1  dysferlin isoform X5

      UniProtKB/TrEMBL
      A0A0N4SWG7
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1638 → 1761
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1872 → 2003
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2016 → 2103
      Ferlin_C; Ferlin C-terminus

    15. XM_030255407.2 → XP_030111267.1  dysferlin isoform X6

      UniProtKB/TrEMBL
      A0A0N4SWG7
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1634 → 1757
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1868 → 1999
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain
      pfam16165
      Location:2012 → 2099
      Ferlin_C; Ferlin C-terminus

    16. XM_006506170.3 → XP_006506233.1  dysferlin isoform X9

      UniProtKB/TrEMBL
      A0A0N4SWG7
      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 → 2085
      Ferlin_C; Ferlin C-terminus

    17. XM_006506172.3 → XP_006506235.1  dysferlin isoform X11

      UniProtKB/TrEMBL
      A0A0N4SVX9, A0A0N4SWG7
      Related
      ENSMUSP00000145292.2, ENSMUST00000203695.3
      Conserved Domains (11) summary
      cd04011
      Location:251 → 360
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1186 → 1314
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:414 → 588
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1613 → 1736
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1847 → 1978
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:980 → 1036
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:821 → 893
      FerB; FerB (NUC096) domain
      pfam08151
      Location:358 → 408
      FerI; FerI (NUC094) domain
      pfam08165
      Location:732 → 789
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1991 → 2078
      Ferlin_C; Ferlin C-terminus

    18. XM_006506174.3 → XP_006506237.1  dysferlin isoform X13

      UniProtKB/Swiss-Prot
      Q6KAR3, Q80VT0, Q9ESD7, Q9QXC0
      UniProtKB/TrEMBL
      A0A0N4SUN3
      Related
      ENSMUSP00000144748.2, ENSMUST00000204987.3
      Conserved Domains (11) summary
      cd04011
      Location:220 → 329
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1155 → 1283
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:383 → 557
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1603 → 1726
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 → 134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1837 → 1968
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:949 → 1005
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:790 → 862
      FerB; FerB (NUC096) domain
      pfam08151
      Location:327 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:701 → 758
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1981 → 2068
      Ferlin_C; Ferlin C-terminus

    19. XM_017321594.1 → XP_017177083.1  dysferlin isoform X23

      Conserved Domains (7) summary
      cd04017
      Location:433 → 561
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04037
      Location:901 → 1024
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08374
      Location:1135 → 1266
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:227 → 283
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:68 → 140
      FerB; FerB (NUC096) domain
      pfam08165
      Location:2 → 36
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1279 → 1366
      Ferlin_C; Ferlin C-terminus

    RNA

    1. XR_004942962.1 RNA Sequence

    2. XR_377460.4 RNA Sequence

    3. XR_377461.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ESD7.3 GenPept UniProtKB/Swiss-Prot:Q9ESD7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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