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    DYSF dysferlin [ Ovis aries (sheep) ]

    Gene ID: 101109257, updated on 10-Oct-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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    See DYSF in Genome Data Viewer
    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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    Related articles in PubMed

    1. Manual GO annotation of predictive protein signatures: the InterPro approach to GO curation. Burge S, et al. Database (Oxford), 2012. PMID 22301074, Free PMC Article
    2. TreeGrafter: phylogenetic tree-based annotation of proteins with Gene Ontology terms and other annotations. Tang H, et al. Bioinformatics, 2019 Feb 1. PMID 30032202, Free PMC Article

    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

      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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