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DYSF dysferlin [ Ovis aries (sheep) ]

Gene ID: 101109257, updated on 6-Jun-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
See related
EnsemblRapid:ENSOARG00020005927
Gene type
protein coding
RefSeq status
MODEL
Organism
Ovis aries
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Caprinae; Ovis
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: 3
Exon count:
59
Annotation release Status Assembly Chr Location
RS_2023_10 current ARS-UI_Ramb_v3.0 (GCF_016772045.2) 3 NC_056056.1 (93344288..93569839)

Chromosome 3 - NC_056056.1Genomic Context describing neighboring genes Neighboring gene zinc finger protein 638 Neighboring gene transfer RNA serine (anticodon GGA) Neighboring gene large ribosomal subunit protein eL21-like Neighboring gene ATP synthase F(0) complex subunit C1, mitochondrial-like Neighboring gene cytochrome P450 26B1 Neighboring gene transfer RNA glycine (anticodon GCC)

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_056056.1 Chromosome 3 Reference ARS-UI_Ramb_v3.0 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
Names
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_016772045.2-RS_2023_10

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

Reference ARS-UI_Ramb_v3.0 Primary Assembly

Genomic

  1. NC_056056.1 Reference ARS-UI_Ramb_v3.0 Primary Assembly

    Range
    93344288..93569839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_042246330.1 → XP_042102264.1  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A836D3T2
    Conserved Domains (7) 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:1646 → 1769
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1880 → 2011
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:979 → 1035
    DysFN; Dysferlin domain, N-terminal region

  2. XM_060412345.1 → XP_060268328.1  dysferlin isoform X5

    UniProtKB/TrEMBL
    A0A836D3T2
    Related
    ENSOARP00020007630.1, ENSOART00020009235.2

  3. XM_004006065.5 → XP_004006114.2  dysferlin isoform X12

    UniProtKB/TrEMBL
    A0A836D3T2
    Related
    ENSOARP00020007856.2, ENSOART00020009508.2

  4. XM_004006060.5 → XP_004006109.2  dysferlin isoform X8

    UniProtKB/TrEMBL
    A0A836D3T2
    Related
    ENSOARP00020008015.2, ENSOART00020009691.2

  5. XM_004006059.5 → XP_004006108.2  dysferlin isoform X16

    UniProtKB/TrEMBL
    A0A836D3T2

  6. XM_012173627.4 → XP_012029017.2  dysferlin isoform X10

    UniProtKB/TrEMBL
    W5PPG2

  7. XM_004006061.5 → XP_004006110.2  dysferlin isoform X14

    UniProtKB/TrEMBL
    W5PPG2
    Related
    ENSOARP00020008684.2, ENSOART00020010538.2

  8. XM_004006058.5 → XP_004006107.2  dysferlin isoform X20

    UniProtKB/TrEMBL
    W5PPG2

  9. XM_004006063.5 → XP_004006112.2  dysferlin isoform X18

    UniProtKB/TrEMBL
    A0A836D3T2

  10. XM_004006062.5 → XP_004006111.2  dysferlin isoform X22

    UniProtKB/TrEMBL
    W5PPG2

  11. XM_015094450.3 → XP_014949936.2  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A836D3T2

  12. XM_042246332.1 → XP_042102266.1  dysferlin isoform X6

    UniProtKB/TrEMBL
    A0A836D3T2
    Conserved Domains (7) 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:1626 → 1749
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:7 → 136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1860 → 1991
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:980 → 1036
    DysFN; Dysferlin domain, N-terminal region

  13. XM_042246331.1 → XP_042102265.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A836D3T2
    Conserved Domains (7) 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:1633 → 1756
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:7 → 136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1867 → 1998
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:980 → 1036
    DysFN; Dysferlin domain, N-terminal region

  14. XM_027966988.2 → XP_027822789.1  dysferlin isoform X11

    UniProtKB/TrEMBL
    A0A836D3T2
    Related
    ENSOARP00020008354.1, ENSOART00020010128.2

  15. XM_027966983.2 → XP_027822784.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A836D3T2

  16. XM_027966986.2 → XP_027822787.1  dysferlin isoform X7

    UniProtKB/TrEMBL
    A0A836D3T2

  17. XM_027966990.2 → XP_027822791.1  dysferlin isoform X15

    UniProtKB/TrEMBL
    A0A836D3T2

  18. XM_042246333.1 → XP_042102267.1  dysferlin isoform X9

    UniProtKB/TrEMBL
    A0A836D3T2
    Conserved Domains (7) 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:1616 → 1739
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:7 → 136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1850 → 1981
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:949 → 1005
    DysFN; Dysferlin domain, N-terminal region

  19. XM_027966989.2 → XP_027822790.1  dysferlin isoform X13

    UniProtKB/TrEMBL
    A0A836D3T2

  20. XM_027966992.2 → XP_027822793.1  dysferlin isoform X19

    UniProtKB/TrEMBL
    W5PPG2

  21. XM_027966991.2 → XP_027822792.1  dysferlin isoform X17

    UniProtKB/TrEMBL
    A0A836D3T2

  22. XM_027966994.2 → XP_027822795.1  dysferlin isoform X21

    UniProtKB/TrEMBL
    A0A836D3T2
Nucleotide Protein Strain
Heading Accession and Version

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