U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dysf dysferlin [ Mus musculus (house mouse) ]

Gene ID: 26903, updated on 12-May-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

Alleles

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

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
dysferlin
Names
dysferlin_a
dystrophy-associated fer-1-like protein
fer-1-like protein 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous