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Dysf dysferlin [ Rattus norvegicus (Norway rat) ]

Gene ID: 312492, updated on 5-Mar-2024

Summary

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Official Symbol
Dysfprovided by RGD
Official Full Name
dysferlinprovided by RGD
Primary source
RGD:1311023
See related
Ensembl: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 several processes, including myeloid cell activation involved in immune response; negative regulation of phagocytosis; and plasma membrane organization. Predicted to act upstream of or within several processes, including negative regulation of macromolecule metabolic process; positive regulation of neutrophil chemotaxis; 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 muscular dystrophy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin). [provided by Alliance of Genome Resources, Apr 2022]
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 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
  3. Rapid actin-cytoskeleton-dependent recruitment of plasma membrane-derived dysferlin at wounds is critical for muscle membrane repair. McDade JR, et al. FASEB J, 2014 Aug. PMID 24784578, Free PMC Article
  4. Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane. Kerr JP, et al. Proc Natl Acad Sci U S A, 2013 Dec 17. PMID 24302765, Free PMC Article
  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
  
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 ISO
Inferred from Sequence Orthology
more info
  
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 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
  
involved_in negative regulation of phagocytosis IBA
Inferred from Biological aspect of Ancestor
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
  
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 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 development 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 IBA
Inferred from Biological aspect of Ancestor
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 
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 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, ENSRNOT00000064536.3
    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

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

    UniProtKB/TrEMBL
    A0A8I5ZVI7, A0A8I6GEZ7
    Related
    ENSRNOP00000087285.1
    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
    Related
    ENSRNOP00000078253.1
    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
    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
    Related
    ENSRNOP00000077445.1
    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
    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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