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DYSF dysferlin [ Aythya fuligula (tufted duck) ]

Gene ID: 116488428, updated on 25-Jun-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
See related
EnsemblRapid:ENSAFUG00000010307
Gene type
protein coding
RefSeq status
MODEL
Organism
Aythya fuligula
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Anseriformes; Anatidae; Aythyinae; Aythya
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: 4
Exon count:
58
Annotation release Status Assembly Chr Location
100 current bAytFul2.pri (GCF_009819795.1) 4 NC_045562.1 (76145528..76227999, complement)

Chromosome 4 - NC_045562.1Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B Neighboring gene cytochrome P450 26B1 Neighboring gene zinc finger protein 638 Neighboring gene poly(A) binding protein interacting protein 2B

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_045562.1 Chromosome 4 Reference bAytFul2.pri Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

General gene information

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Homology

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 

General protein information

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Preferred Names
dysferlin

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Aythya fuligula Annotation Release 100 details...Open this link in a new tab

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

Reference bAytFul2.pri Primary Assembly

Genomic

  1. NC_045562.1 Reference bAytFul2.pri Primary Assembly

    Range
    76145528..76227999 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_032185943.1 → XP_032041834.1  dysferlin isoform X13

    UniProtKB/TrEMBL
    A0A6J3CUP1
    Conserved Domains (11) summary
    cd04011
    Location:245 → 354
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1166 → 1294
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:408 → 568
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1605 → 1728
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1839 → 1970
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:889 → 947
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:800 → 873
    FerB; FerB (NUC096) domain
    pfam08151
    Location:352 → 402
    FerI; FerI (NUC094) domain
    pfam08165
    Location:712 → 769
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1983 → 2078
    Ferlin_C; Ferlin C-terminus

  2. XM_032185939.1 → XP_032041830.1  dysferlin isoform X10

    UniProtKB/TrEMBL
    A0A6J3CU61
    Related
    ENSAFUP00000013927.1, ENSAFUT00000017301.1
    Conserved Domains (11) summary
    cd04011
    Location:245 → 354
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1166 → 1294
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:408 → 568
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1626 → 1749
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1860 → 1991
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:889 → 947
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:800 → 873
    FerB; FerB (NUC096) domain
    pfam08151
    Location:352 → 402
    FerI; FerI (NUC094) domain
    pfam08165
    Location:712 → 769
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2004 → 2099
    Ferlin_C; Ferlin C-terminus

  3. XM_032185935.1 → XP_032041826.1  dysferlin isoform X6

    UniProtKB/TrEMBL
    A0A6J3CRV2
    Conserved Domains (11) summary
    cd04011
    Location:245 → 354
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1166 → 1294
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:408 → 568
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1630 → 1753
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1864 → 1995
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:889 → 947
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:800 → 873
    FerB; FerB (NUC096) domain
    pfam08151
    Location:352 → 402
    FerI; FerI (NUC094) domain
    pfam08165
    Location:712 → 769
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2008 → 2103
    Ferlin_C; Ferlin C-terminus

  4. XM_032185940.1 → XP_032041831.1  dysferlin isoform X11

    UniProtKB/TrEMBL
    A0A6J3CRV8
    Conserved Domains (11) summary
    cd04011
    Location:245 → 354
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1180 → 1308
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:408 → 582
    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:903 → 961
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:814 → 887
    FerB; FerB (NUC096) domain
    pfam08151
    Location:352 → 402
    FerI; FerI (NUC094) domain
    pfam08165
    Location:726 → 783
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1997 → 2092
    Ferlin_C; Ferlin C-terminus

  5. XM_032185944.1 → XP_032041835.1  dysferlin isoform X14

    UniProtKB/TrEMBL
    A0A6J3CU66
    Conserved Domains (11) summary
    cd04011
    Location:245 → 354
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1180 → 1308
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:408 → 582
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1640 → 1763
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1874 → 2005
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:903 → 961
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:814 → 887
    FerB; FerB (NUC096) domain
    pfam08151
    Location:352 → 402
    FerI; FerI (NUC094) domain
    pfam08165
    Location:726 → 783
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2018 → 2113
    Ferlin_C; Ferlin C-terminus

  6. XM_032185931.1 → XP_032041822.1  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A6J3CY15
    Conserved Domains (11) summary
    cd04011
    Location:245 → 354
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1180 → 1308
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:408 → 582
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1644 → 1767
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1878 → 2009
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:903 → 961
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:814 → 887
    FerB; FerB (NUC096) domain
    pfam08151
    Location:352 → 402
    FerI; FerI (NUC094) domain
    pfam08165
    Location:726 → 783
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2022 → 2117
    Ferlin_C; Ferlin C-terminus

  7. XM_032185942.1 → XP_032041833.1  dysferlin isoform X12

    UniProtKB/TrEMBL
    A0A6J3CWZ7
    Related
    ENSAFUP00000013886.1, ENSAFUT00000017253.1
    Conserved Domains (11) summary
    cd04011
    Location:247 → 356
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1168 → 1296
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:410 → 570
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1607 → 1730
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1841 → 1972
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:891 → 949
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:802 → 875
    FerB; FerB (NUC096) domain
    pfam08151
    Location:354 → 404
    FerI; FerI (NUC094) domain
    pfam08165
    Location:714 → 771
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1985 → 2080
    Ferlin_C; Ferlin C-terminus

  8. XM_032185938.1 → XP_032041829.1  dysferlin isoform X9

    UniProtKB/TrEMBL
    A0A6J3CUN5
    Related
    ENSAFUP00000013909.1, ENSAFUT00000017275.1
    Conserved Domains (11) summary
    cd04011
    Location:247 → 356
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1168 → 1296
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:410 → 570
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1628 → 1751
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1862 → 1993
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:891 → 949
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:802 → 875
    FerB; FerB (NUC096) domain
    pfam08151
    Location:354 → 404
    FerI; FerI (NUC094) domain
    pfam08165
    Location:714 → 771
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2006 → 2101
    Ferlin_C; Ferlin C-terminus

  9. XM_032185933.1 → XP_032041824.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A6J3CUN0
    Conserved Domains (11) summary
    cd04011
    Location:247 → 356
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1168 → 1296
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:410 → 570
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1632 → 1755
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1866 → 1997
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:891 → 949
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:802 → 875
    FerB; FerB (NUC096) domain
    pfam08151
    Location:354 → 404
    FerI; FerI (NUC094) domain
    pfam08165
    Location:714 → 771
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2010 → 2105
    Ferlin_C; Ferlin C-terminus

  10. XM_032185934.1 → XP_032041825.1  dysferlin isoform X5

    UniProtKB/TrEMBL
    A0A6J3CU56
    Conserved Domains (11) summary
    cd04011
    Location:247 → 356
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1182 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:410 → 584
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1632 → 1755
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1866 → 1997
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:905 → 963
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:816 → 889
    FerB; FerB (NUC096) domain
    pfam08151
    Location:354 → 404
    FerI; FerI (NUC094) domain
    pfam08165
    Location:728 → 785
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2010 → 2105
    Ferlin_C; Ferlin C-terminus

  11. XM_032185936.1 → XP_032041827.1  dysferlin isoform X7

    UniProtKB/TrEMBL
    A0A6J3CY21
    Conserved Domains (11) summary
    cd04011
    Location:247 → 356
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1182 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:410 → 584
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1621 → 1744
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1855 → 1986
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:905 → 963
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:816 → 889
    FerB; FerB (NUC096) domain
    pfam08151
    Location:354 → 404
    FerI; FerI (NUC094) domain
    pfam08165
    Location:728 → 785
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1999 → 2094
    Ferlin_C; Ferlin C-terminus

  12. XM_032185932.1 → XP_032041823.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A6J3CWY4
    Conserved Domains (11) summary
    cd04011
    Location:247 → 356
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1182 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:410 → 584
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1642 → 1765
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1876 → 2007
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:905 → 963
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:816 → 889
    FerB; FerB (NUC096) domain
    pfam08151
    Location:354 → 404
    FerI; FerI (NUC094) domain
    pfam08165
    Location:728 → 785
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2020 → 2115
    Ferlin_C; Ferlin C-terminus

  13. XM_032185929.1 → XP_032041820.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A6J3CU52
    Conserved Domains (11) summary
    cd04011
    Location:247 → 356
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1182 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:410 → 584
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1646 → 1769
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1880 → 2011
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:905 → 963
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:816 → 889
    FerB; FerB (NUC096) domain
    pfam08151
    Location:354 → 404
    FerI; FerI (NUC094) domain
    pfam08165
    Location:728 → 785
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2024 → 2119
    Ferlin_C; Ferlin C-terminus

  14. XM_032185937.1 → XP_032041828.1  dysferlin isoform X8

    UniProtKB/TrEMBL
    A0A6J3CWZ2
    Conserved Domains (11) summary
    cd04011
    Location:215 → 324
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1150 → 1278
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:378 → 552
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1614 → 1737
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1848 → 1979
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:873 → 931
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:784 → 857
    FerB; FerB (NUC096) domain
    pfam08151
    Location:322 → 372
    FerI; FerI (NUC094) domain
    pfam08165
    Location:696 → 753
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1992 → 2087
    Ferlin_C; Ferlin C-terminus
Nucleotide Protein
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