Format

Send to:

Choose Destination

Dysf dysferlin [ Mus musculus (house mouse) ]

Gene ID: 26903, updated on 18-Sep-2018

Summary

Official Symbol
Dysfprovided by MGI
Official Full Name
dysferlinprovided by MGI
Primary source
MGI:MGI:1349385
See related
Ensembl:ENSMUSG00000033788 Vega:OTTMUSG00000022272
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; AI604795; 2310004N10Rik
Expression
Broad expression in genital fat pad adult (RPKM 9.2), heart adult (RPKM 8.9) and 24 other tissues See more
Orthologs

Genomic context

See Dysf in Genome Data Viewer
Location:
6 C3; 6 36.14 cM
Exon count:
64
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (84008314..84211060)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (83958584..84161036)

Chromosome 6 - NC_000072.6Genomic Context describing neighboring genes Neighboring gene ribosomal protein S8 pseudogene Neighboring gene zinc finger protein 638 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 33024 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene Neighboring gene predicted gene 10445 Neighboring gene predicted gene, 38845

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00175

Gene Ontology Provided by MGI

Function Evidence Code Pubs
alpha-tubulin binding IDA
Inferred from Direct Assay
more info
PubMed 
alpha-tubulin binding IPI
Inferred from Physical Interaction
more info
PubMed 
calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
calcium-dependent phospholipid binding ISO
Inferred from Sequence Orthology
more info
 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding ISO
Inferred from Sequence Orthology
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
T-tubule organization IGI
Inferred from Genetic Interaction
more info
PubMed 
T-tubule organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytokine secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycerol metabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
glycerol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
lipid storage IMP
Inferred from Mutant Phenotype
more info
PubMed 
macrophage activation involved in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
macrophage activation involved in immune response ISO
Inferred from Sequence Orthology
more info
PubMed 
monocyte activation involved in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
monocyte activation involved in immune response ISO
Inferred from Sequence Orthology
more info
PubMed 
muscle fiber development IGI
Inferred from Genetic Interaction
more info
PubMed 
muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
myotube differentiation ISO
Inferred from Sequence Orthology
more info
 
negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of high voltage-gated calcium channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of microtubule depolymerization ISO
Inferred from Sequence Orthology
more info
 
negative regulation of phagocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of phagocytosis ISO
Inferred from Sequence Orthology
more info
PubMed 
negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein polyubiquitination IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of tubulin deacetylation IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of tubulin deacetylation ISO
Inferred from Sequence Orthology
more info
 
plasma membrane repair IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neutrophil chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of calcium ion import IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle tissue development IDA
Inferred from Direct Assay
more info
 
skeletal muscle tissue development ISO
Inferred from Sequence Orthology
more info
 
skeletal muscle tissue regeneration IMP
Inferred from Mutant Phenotype
more info
PubMed 
vesicle fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
T-tubule IDA
Inferred from Direct Assay
more info
PubMed 
T-tubule ISO
Inferred from Sequence Orthology
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytoplasm ISO
Inferred from Sequence Orthology
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
early endosome ISO
Inferred from Sequence Orthology
more info
 
endocytic vesicle ISO
Inferred from Sequence Orthology
more info
 
endosome ISO
Inferred from Sequence Orthology
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
late endosome ISO
Inferred from Sequence Orthology
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
membrane microdomain IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
microtubule organizing center ISO
Inferred from Sequence Orthology
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane ISO
Inferred from Sequence Orthology
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
sarcolemma ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001077694.2NP_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/Swiss-Prot
    Q9ESD7
    UniProtKB/TrEMBL
    E9Q423
    Related
    ENSMUSP00000109454.1, OTTMUSP00000074016, ENSMUST00000113823.7, OTTMUST00000141756
    Conserved Domains (11) summary
    cd04011
    Location:250359
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11711299
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:413573
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15981721
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18321963
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9651021
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:806878
    FerB; FerB (NUC096) domain
    pfam08151
    Location:357407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:717774
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19762062
    Ferlin_C; Ferlin C-terminus
  2. NM_001310152.1NP_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
    Q9ESD7
    Related
    ENSMUSP00000109449.1, OTTMUSP00000025200, ENSMUST00000113818.7, OTTMUST00000053044
    Conserved Domains (11) summary
    cd04011
    Location:220329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11411269
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:383543
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15681691
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18021933
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:935991
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:776848
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:687744
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19462032
    Ferlin_C; Ferlin C-terminus
  3. NM_021469.3NP_067444.2  dysferlin isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK131144, CN716462
    Consensus CDS
    CCDS39536.1
    UniProtKB/Swiss-Prot
    Q9ESD7
    Related
    ENSMUSP00000080579.6, OTTMUSP00000025199, ENSMUST00000081904.6, OTTMUST00000053043
    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11721300
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414574
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15991722
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18331964
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9661022
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:807879
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:718775
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19772063
    Ferlin_C; Ferlin C-terminus

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

    Range
    84008314..84211060
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006506164.3XP_006506227.1  dysferlin isoform X2

    Conserved Domains (11) summary
    cd04011
    Location:250359
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11851313
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:413587
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16531776
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18872018
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9791035
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:820892
    FerB; FerB (NUC096) domain
    pfam08151
    Location:357407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:731788
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20312117
    Ferlin_C; Ferlin C-terminus
  2. XM_006506173.3XP_006506236.1  dysferlin isoform X11

    Related
    ENSMUSP00000145511.1, OTTMUSP00000074014, ENSMUST00000203803.2, OTTMUST00000141753
    Conserved Domains (11) summary
    cd04011
    Location:250359
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11851313
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:413587
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16121735
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18461977
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9791035
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:820892
    FerB; FerB (NUC096) domain
    pfam08151
    Location:357407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:731788
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19902076
    Ferlin_C; Ferlin C-terminus
  3. XM_006506171.3XP_006506234.1  dysferlin isoform X9

    UniProtKB/TrEMBL
    A0A0N4SV63
    Related
    ENSMUSP00000144970.1, OTTMUSP00000074015, ENSMUST00000204591.2, OTTMUST00000141754
    Conserved Domains (11) summary
    cd04011
    Location:250359
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11711299
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:413573
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16191742
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18531984
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9651021
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:806878
    FerB; FerB (NUC096) domain
    pfam08151
    Location:357407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:717774
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19972083
    Ferlin_C; Ferlin C-terminus
  4. XM_006506175.3XP_006506238.1  dysferlin isoform X13

    UniProtKB/TrEMBL
    A0A0N4SWH3
    Related
    ENSMUSP00000145518.1, OTTMUSP00000074013, ENSMUST00000153860.3, OTTMUST00000141752
    Conserved Domains (11) summary
    cd04011
    Location:219328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11541282
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382556
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16021725
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18361967
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9481004
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:789861
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:700757
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19802066
    Ferlin_C; Ferlin C-terminus
  5. XM_006506179.3XP_006506242.1  dysferlin isoform X17

    UniProtKB/TrEMBL
    E9QL12
    Related
    ENSMUSP00000109452.1, OTTMUSP00000025201, ENSMUST00000113821.7, OTTMUST00000053045
    Conserved Domains (11) summary
    cd04011
    Location:219328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11541282
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382556
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15811704
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18151946
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9481004
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:789861
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:700757
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19592045
    Ferlin_C; Ferlin C-terminus
  6. XM_006506177.3XP_006506240.1  dysferlin isoform X15

    Conserved Domains (11) summary
    cd04011
    Location:219328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11401268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382542
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15881711
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18221953
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934990
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:775847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:686743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19662052
    Ferlin_C; Ferlin C-terminus
  7. XM_006506181.3XP_006506244.1  dysferlin isoform X18

    Conserved Domains (11) summary
    cd04011
    Location:219328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11401268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382542
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15671690
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18011932
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934990
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:775847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:686743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19452031
    Ferlin_C; Ferlin C-terminus
  8. XM_006506185.3XP_006506248.1  dysferlin isoform X23

    Conserved Domains (7) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
  9. XM_006506182.3XP_006506245.1  dysferlin isoform X19

    Conserved Domains (8) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
  10. XM_006506183.3XP_006506246.1  dysferlin isoform X20

    Conserved Domains (8) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
  11. XM_006506184.3XP_006506247.1  dysferlin isoform X21

    Conserved Domains (8) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
  12. XM_006506163.2XP_006506226.1  dysferlin isoform X1

    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16541777
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18882019
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20322118
    Ferlin_C; Ferlin C-terminus
  13. XM_006506165.2XP_006506228.1  dysferlin isoform X3

    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16501773
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18842015
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20282114
    Ferlin_C; Ferlin C-terminus
  14. XM_006506168.2XP_006506231.1  dysferlin isoform X6

    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16291752
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18631994
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20072093
    Ferlin_C; Ferlin C-terminus
  15. XM_006506166.2XP_006506229.1  dysferlin isoform X4

    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11721300
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414574
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16401763
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18742005
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9661022
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:807879
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:718775
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20182104
    Ferlin_C; Ferlin C-terminus
  16. XM_006506169.2XP_006506232.1  dysferlin isoform X7

    Conserved Domains (11) summary
    cd04011
    Location:220329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11551283
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:383557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16231746
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18571988
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9491005
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:790862
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:701758
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20012087
    Ferlin_C; Ferlin C-terminus
  17. XM_006506167.2XP_006506230.1  dysferlin isoform X5

    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16381761
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18722003
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20162102
    Ferlin_C; Ferlin C-terminus
  18. XM_006506172.2XP_006506235.1  dysferlin isoform X10

    UniProtKB/TrEMBL
    A0A0N4SVX9
    Related
    ENSMUSP00000145292.1, OTTMUSP00000074085, ENSMUST00000203695.2, OTTMUST00000141884
    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11861314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16131736
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18471978
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9801036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732789
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19912077
    Ferlin_C; Ferlin C-terminus
  19. XM_006506170.2XP_006506233.1  dysferlin isoform X8

    Conserved Domains (11) summary
    cd04011
    Location:251360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11721300
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414574
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16201743
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18541985
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9661022
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:807879
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:718775
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19982084
    Ferlin_C; Ferlin C-terminus
  20. XM_006506174.2XP_006506237.1  dysferlin isoform X12

    UniProtKB/TrEMBL
    A0A0N4SUN3
    Related
    ENSMUSP00000144748.1, OTTMUSP00000074083, ENSMUST00000204987.2, OTTMUST00000141882
    Conserved Domains (11) summary
    cd04011
    Location:220329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11551283
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:383557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16031726
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18371968
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9491005
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:790862
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:701758
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19812067
    Ferlin_C; Ferlin C-terminus
  21. XM_006506178.2XP_006506241.1  dysferlin isoform X16

    UniProtKB/TrEMBL
    E9PXU9
    Related
    ENSMUSP00000087022.5, OTTMUSP00000025438, ENSMUST00000089595.11, OTTMUST00000053500
    Conserved Domains (11) summary
    cd04011
    Location:220329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11551283
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:383557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15821705
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18161947
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9491005
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:790862
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:701758
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19602046
    Ferlin_C; Ferlin C-terminus
  22. XM_006506176.2XP_006506239.1  dysferlin isoform X14

    UniProtKB/TrEMBL
    A0A0N4SUJ2
    Related
    ENSMUSP00000144705.1, OTTMUSP00000074141, ENSMUST00000204354.2, OTTMUST00000142007
    Conserved Domains (11) summary
    cd04011
    Location:220329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11411269
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:383543
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15891712
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18231954
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:935991
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:776848
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:687744
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19672053
    Ferlin_C; Ferlin C-terminus
  23. XM_017321594.1XP_017177083.1  dysferlin isoform X22

RNA

  1. XR_377460.2 RNA Sequence

  2. XR_377461.3 RNA Sequence

Support Center