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    dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Danio rerio (zebrafish) ]

    Gene ID: 560924, updated on 9-Dec-2024

    Summary

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    Official Symbol
    dysfprovided by ZNC
    Official Full Name
    dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-070501-1
    See related
    Ensembl:ENSDARG00000007370 AllianceGenome:ZFIN:ZDB-GENE-070501-1
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    wu:fb73b05; si:rp71-50c18.1
    Summary
    Predicted to enable metal ion binding activity. Acts upstream of or within T-tubule organization; muscle organ morphogenesis; and plasma membrane repair. Located in T-tubule. Is expressed in brain; digestive system; eye; heart; and muscle. Used to study muscular dystrophy. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal myopathy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See dysf in Genome Data Viewer
    Location:
    chromosome: 7
    Exon count:
    59
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 7 NC_007118.7 (25558338..25702541, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 7 NC_007118.6 (25289729..25426360, complement)

    Chromosome 7 - NC_007118.7Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B Neighboring gene BCL2 associated agonist of cell death b Neighboring gene cytochrome P450, family 26, subfamily b, polypeptide 1 Neighboring gene uncharacterized LOC137496166 Neighboring gene E3 ubiquitin-protein ligase TRIM39-like Neighboring gene si:ch73-211e3.1 Neighboring gene myotubularin 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Characterization of zebrafish dysferlin by morpholino knockdown. Kawahara G, et al. Biochem Biophys Res Commun, 2011 Sep 23. PMID 21893049, Free PMC Article
    2. AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy. Ono H, et al. Mol Ther, 2020 Apr 8. PMID 32087766, Free PMC Article
    3. Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair. Middel V, et al. Nat Commun, 2016 Sep 19. PMID 27641898, Free PMC Article
    4. Fer1l6 is essential for the development of vertebrate muscle tissue in zebrafish. Bonventre JA, et al. Mol Biol Cell, 2019 Feb 1. PMID 30516436, Free PMC Article
    5. Retinoic acid metabolic genes, meiosis, and gonadal sex differentiation in zebrafish. Rodríguez-Marí A, et al. PLoS One, 2013. PMID 24040125, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. arginine-rich motif crucial for phosphatidylserine accumulation in sarcolemma repair
      Title: Dysferlin-mediated phosphatidylserine sorting engages macrophages in sarcolemma repair.
    2. zebrafish dysferlin expression is involved in stabilizing muscle structures and its downregulation causes muscle disorganization.
      Title: Characterization of zebrafish dysferlin by morpholino knockdown.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within T-tubule organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within muscle organ morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within plasma membrane repair IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dysferlin

    NCBI Reference Sequences (RefSeq)

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    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_001257193.1 → NP_001244122.1  dysferlin

      See identical proteins and their annotated locations for NP_001244122.1

      Status: PROVISIONAL

      Source sequence(s)
      FR725960
      UniProtKB/TrEMBL
      F6IA09
      Conserved Domains (12) summary
      cd04011
      Location:224 → 332
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1140 → 1268
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:386 → 546
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1582 → 1705
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:11 → 137
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1816 → 1947
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:936 → 992
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:780 → 849
      FerB; FerB (NUC096) domain
      pfam08151
      Location:331 → 379
      FerI; FerI (NUC094) domain
      pfam08165
      Location:690 → 747
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1958 → 2045
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1352 → 1437
      C2; C2 domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007118.7 Reference GRCz11 Primary Assembly

      Range
      25558338..25702541 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068222330.1 → XP_068078431.1  dysferlin isoform X11

    2. XM_005172293.5 → XP_005172350.1  dysferlin isoform X9

      See identical proteins and their annotated locations for XP_005172350.1

      UniProtKB/TrEMBL
      A0A8N7XJA2, E7F4H1, I0J0E6
      Related
      ENSDARP00000077055.5, ENSDART00000082620.7
      Conserved Domains (12) summary
      cd04011
      Location:222 → 330
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1149 → 1277
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:384 → 555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1591 → 1714
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 135
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1825 → 1956
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:945 → 1001
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:789 → 858
      FerB; FerB (NUC096) domain
      pfam08151
      Location:329 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699 → 756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1967 → 2054
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1361 → 1446
      C2; C2 domain

    3. XM_005172291.5 → XP_005172348.1  dysferlin isoform X4

      UniProtKB/TrEMBL
      A0A8M2BJL7
      Conserved Domains (12) summary
      cd04011
      Location:222 → 330
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1149 → 1277
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:384 → 555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1610 → 1733
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 → 135
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1844 → 1975
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:945 → 1001
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:789 → 858
      FerB; FerB (NUC096) domain
      pfam08151
      Location:329 → 377
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699 → 756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1986 → 2073
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1361 → 1446
      C2; C2 domain

    4. XM_017356879.3 → XP_017212368.1  dysferlin isoform X10

      UniProtKB/TrEMBL
      A0A8M6YZ73, F1QIS3
      Related
      ENSDARP00000114340.3, ENSDART00000135415.5

    5. XM_021477557.2 → XP_021333232.1  dysferlin isoform X5

      UniProtKB/TrEMBL
      A0A8M9PNZ9
      Conserved Domains (12) summary
      cd04011
      Location:224 → 332
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1140 → 1268
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:386 → 546
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1601 → 1724
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:11 → 137
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1835 → 1966
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:936 → 992
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:780 → 849
      FerB; FerB (NUC096) domain
      pfam08151
      Location:331 → 380
      FerI; FerI (NUC094) domain
      pfam08165
      Location:690 → 747
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1977 → 2065
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1352 → 1437
      C2; C2 domain

    6. XM_021477556.2 → XP_021333231.1  dysferlin isoform X3

      UniProtKB/TrEMBL
      A0A8M9QC21
      Conserved Domains (12) summary
      cd04011
      Location:224 → 332
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1150 → 1278
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:386 → 557
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1611 → 1734
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:11 → 137
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1845 → 1976
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:791 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:331 → 380
      FerI; FerI (NUC094) domain
      pfam08165
      Location:701 → 758
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1987 → 2075
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1362 → 1447
      C2; C2 domain

    7. XM_021477558.2 → XP_021333233.1  dysferlin isoform X6

      UniProtKB/TrEMBL
      A0A8M9Q1P0
      Conserved Domains (12) summary
      cd04011
      Location:224 → 332
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1151 → 1279
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:386 → 557
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1598 → 1721
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:11 → 137
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1832 → 1963
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:791 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:331 → 380
      FerI; FerI (NUC094) domain
      pfam08165
      Location:701 → 758
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1974 → 2062
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1349 → 1434
      C2; C2 domain

    8. XM_021477560.2 → XP_021333235.1  dysferlin isoform X8

      UniProtKB/TrEMBL
      A0A8M9QH31
      Conserved Domains (12) summary
      cd04011
      Location:224 → 332
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1151 → 1279
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:386 → 557
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1592 → 1715
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:11 → 137
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1826 → 1957
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:791 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:331 → 380
      FerI; FerI (NUC094) domain
      pfam08165
      Location:701 → 758
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1968 → 2056
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1363 → 1448
      C2; C2 domain

    9. XM_021477559.2 → XP_021333234.1  dysferlin isoform X7

      UniProtKB/TrEMBL
      A0A8M9Q7X3
      Conserved Domains (12) summary
      cd04011
      Location:224 → 332
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1151 → 1279
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:386 → 557
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1593 → 1716
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:11 → 137
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1827 → 1958
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:791 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:331 → 380
      FerI; FerI (NUC094) domain
      pfam08165
      Location:701 → 758
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1969 → 2057
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1363 → 1448
      C2; C2 domain

    10. XM_068222329.1 → XP_068078430.1  dysferlin isoform X2

    11. XM_021477555.2 → XP_021333230.1  dysferlin isoform X1

      UniProtKB/TrEMBL
      A0A8M9QH25
      Conserved Domains (12) summary
      cd04011
      Location:224 → 332
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1151 → 1279
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:386 → 557
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1612 → 1735
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:11 → 137
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1846 → 1977
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:947 → 1003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:791 → 860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:331 → 380
      FerI; FerI (NUC094) domain
      pfam08165
      Location:701 → 758
      FerA; FerA (NUC095) domain
      pfam16165
      Location:1988 → 2076
      Ferlin_C; Ferlin C-terminus
      cl14603
      Location:1363 → 1448
      C2; C2 domain
    Nucleotide Protein
    Heading Accession and Version

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