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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
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