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DYSF dysferlin [ Talpa occidentalis (Iberian mole) ]

Gene ID: 119259057, updated on 21-Mar-2024

Summary

Gene symbol
DYSF
Gene description
dysferlin
Gene type
protein coding
RefSeq status
MODEL
Organism
Talpa occidentalis
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Eulipotyphla; Talpidae; Talpa
Orthologs
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Genomic context

See DYSF in Genome Data Viewer
Location:
chromosome: Un
Exon count:
58
Annotation release Status Assembly Chr Location
RS_2023_03 current MPIMG_talOcc4v2.1 (GCF_014898055.3) Unplaced Scaffold NW_023604861.1 (82987288..83191541)

NW_023604861.1Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC119259855 Neighboring gene zinc finger protein 638 Neighboring gene U4 spliceosomal RNA Neighboring gene ribosome biogenesis protein NSA2 homolog Neighboring gene uncharacterized LOC129146896 Neighboring gene cytochrome P450 26B1

Genomic regions, transcripts, and products

Genomic Sequence:
NW_023604861 Unplaced Scaffold Reference MPIMG_talOcc4v2.1 Primary Assembly

General gene information

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
PubMed 
enables calcium-dependent phospholipid binding IEA
Inferred from Electronic Annotation
more info
PubMed 
Process Evidence Code Pubs
involved_in T-tubule organization IEA
Inferred from Electronic Annotation
more info
PubMed 
involved_in macrophage activation involved in immune response IEA
Inferred from Electronic Annotation
more info
PubMed 
involved_in monocyte activation involved in immune response IEA
Inferred from Electronic Annotation
more info
PubMed 
involved_in negative regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
PubMed 
involved_in plasma membrane repair IEA
Inferred from Electronic Annotation
more info
PubMed 
involved_in vesicle fusion IEA
Inferred from Electronic Annotation
more info
PubMed 
Component Evidence Code Pubs
located_in T-tubule IEA
Inferred from Electronic Annotation
more info
PubMed 
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_014898055.3-RS_2023_03

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

Reference MPIMG_talOcc4v2.1 Primary Assembly

Genomic

  1. NW_023604861.1 Reference MPIMG_talOcc4v2.1 Primary Assembly

    Range
    82987288..83191541
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_037527596.2XP_037383493.1  dysferlin isoform X1

    Conserved Domains (11) summary
    cd04011
    Location:249358
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11701298
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412572
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16321755
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18661997
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9641020
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804877
    FerB; FerB (NUC096) domain
    pfam08151
    Location:356406
    FerI; FerI (NUC094) domain
    pfam08165
    Location:716773
    FerA; FerA (NUC095) domain
    pfam16165
    Location:20102097
    Ferlin_C; Ferlin C-terminus
  2. XM_037527598.2XP_037383495.1  dysferlin isoform X3

    Conserved Domains (11) summary
    cd04011
    Location:249358
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11701298
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412572
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16181741
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18521983
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9641020
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804877
    FerB; FerB (NUC096) domain
    pfam08151
    Location:356406
    FerI; FerI (NUC094) domain
    pfam08165
    Location:716773
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19962083
    Ferlin_C; Ferlin C-terminus
  3. XM_037527600.2XP_037383497.1  dysferlin isoform X5

    Conserved Domains (11) summary
    cd04011
    Location:249358
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11701298
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412572
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15971720
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18311962
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9641020
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804877
    FerB; FerB (NUC096) domain
    pfam08151
    Location:356406
    FerI; FerI (NUC094) domain
    pfam08165
    Location:716773
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19752062
    Ferlin_C; Ferlin C-terminus
  4. XM_037527602.2XP_037383499.1  dysferlin isoform X7

    Conserved Domains (11) summary
    cd04011
    Location:218327
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11391267
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381541
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15871710
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18211952
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:933989
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:773846
    FerB; FerB (NUC096) domain
    pfam08151
    Location:325375
    FerI; FerI (NUC094) domain
    pfam08165
    Location:685742
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19652052
    Ferlin_C; Ferlin C-terminus
  5. XM_037527604.2XP_037383501.1  dysferlin isoform X9

    Conserved Domains (11) summary
    cd04011
    Location:218327
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11391267
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381541
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15661689
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18001931
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:933989
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:773846
    FerB; FerB (NUC096) domain
    pfam08151
    Location:325375
    FerI; FerI (NUC094) domain
    pfam08165
    Location:685742
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19442031
    Ferlin_C; Ferlin C-terminus
  6. XM_037527597.2XP_037383494.1  dysferlin isoform X2

    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:5136
    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:805878
    FerB; FerB (NUC096) domain
    pfam08151
    Location:357407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:717774
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19972084
    Ferlin_C; Ferlin C-terminus
  7. XM_037527599.2XP_037383496.1  dysferlin isoform X4

    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:5136
    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:805878
    FerB; FerB (NUC096) domain
    pfam08151
    Location:357407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:717774
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19762063
    Ferlin_C; Ferlin C-terminus
  8. XM_037527601.2XP_037383498.1  dysferlin isoform X6

    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:5136
    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:774847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:686743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19662053
    Ferlin_C; Ferlin C-terminus
  9. XM_037527603.2XP_037383500.1  dysferlin isoform X8

    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:5136
    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:774847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:686743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:19452032
    Ferlin_C; Ferlin C-terminus