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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Electrophorus electricus (electric eel) ]

Gene ID: 113579799, updated on 18-Jun-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
See related
Ensembl:ENSEEEG00000022268
Gene type
protein coding
RefSeq status
MODEL
Organism
Electrophorus electricus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Gymnotiformes; Gymnotoidei; Gymnotidae; Electrophorus
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: 19
Exon count:
59
Annotation release Status Assembly Chr Location
101 current fEleEle1.pri (GCF_013358815.1) 19 NC_049553.1 (6132597..6192102)
100 previous assembly Ee_SOAP_WITH_SSPACE (GCF_003665695.1) Unplaced Scaffold NW_020826152.1 (14912..70164)

Chromosome 19 - NC_049553.1Genomic Context describing neighboring genes Neighboring gene mastermind-like domain-containing protein 1 Neighboring gene myotubularin 1 Neighboring gene cytochrome P450 26B1 Neighboring gene uncharacterized LOC113579807 Neighboring gene exocyst complex component 6B

Genomic regions, transcripts, and products

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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

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Electrophorus electricus Annotation Release 101 details...Open this link in a new tab

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

Reference fEleEle1.pri

Genomic

  1. NC_049553.1 Reference fEleEle1.pri

    Range
    6132597..6192102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_035519678.1 → XP_035375571.1  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A4W4HLJ3
    Related
    ENSEEEP00000049516.2, ENSEEET00000050054.2
    Conserved Domains (11) summary
    cd04011
    Location:220 → 329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1146 → 1274
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 553
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1611 → 1734
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1845 → 1976
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:943 → 999
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:786 → 856
    FerB; FerB (NUC096) domain
    pfam08151
    Location:328 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:697 → 754
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1987 → 2077
    Ferlin_C; Ferlin C-terminus

  2. XM_035519682.1 → XP_035375575.1  dysferlin isoform X6

    UniProtKB/TrEMBL
    A0A4W4HLJ3
    Related
    ENSEEEP00000049370.2, ENSEEET00000049907.2
    Conserved Domains (11) summary
    cd04011
    Location:220 → 329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1146 → 1274
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 553
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1587 → 1710
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1821 → 1952
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:943 → 999
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:786 → 856
    FerB; FerB (NUC096) domain
    pfam08151
    Location:328 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:697 → 754
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1963 → 2053
    Ferlin_C; Ferlin C-terminus

  3. XM_035519685.1 → XP_035375578.1  dysferlin isoform X8

    UniProtKB/TrEMBL
    A0A4W4HLJ3
    Related
    ENSEEEP00000049484.2, ENSEEET00000050022.2
    Conserved Domains (11) summary
    cd04011
    Location:220 → 329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1135 → 1263
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 542
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1576 → 1699
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1810 → 1941
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:932 → 988
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:775 → 845
    FerB; FerB (NUC096) domain
    pfam08151
    Location:328 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:686 → 743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1952 → 2042
    Ferlin_C; Ferlin C-terminus

  4. XM_035519677.1 → XP_035375570.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A4W4HLJ3
    Conserved Domains (11) summary
    cd04011
    Location:222 → 331
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1276
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1613 → 1736
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1847 → 1978
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:945 → 1001
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:788 → 858
    FerB; FerB (NUC096) domain
    pfam08151
    Location:330 → 378
    FerI; FerI (NUC094) domain
    pfam08165
    Location:699 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1989 → 2079
    Ferlin_C; Ferlin C-terminus

  5. XM_035519679.1 → XP_035375572.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A4W4HLJ3
    Conserved Domains (11) summary
    cd04011
    Location:222 → 331
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1276
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1609 → 1732
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1843 → 1974
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:945 → 1001
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:788 → 858
    FerB; FerB (NUC096) domain
    pfam08151
    Location:330 → 378
    FerI; FerI (NUC094) domain
    pfam08165
    Location:699 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1985 → 2075
    Ferlin_C; Ferlin C-terminus

  6. XM_035519680.1 → XP_035375573.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A4W4HDJ5
    Conserved Domains (11) summary
    cd04011
    Location:222 → 331
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1137 → 1265
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 544
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1602 → 1725
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1836 → 1967
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934 → 990
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:777 → 847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:330 → 378
    FerI; FerI (NUC094) domain
    pfam08165
    Location:688 → 745
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1978 → 2068
    Ferlin_C; Ferlin C-terminus

  7. XM_035519684.1 → XP_035375577.1  dysferlin isoform X7

    UniProtKB/TrEMBL
    A0A4W4HDJ5
    Conserved Domains (11) summary
    cd04011
    Location:222 → 331
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1137 → 1265
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 544
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1578 → 1701
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1812 → 1943
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934 → 990
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:777 → 847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:330 → 378
    FerI; FerI (NUC094) domain
    pfam08165
    Location:688 → 745
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1954 → 2044
    Ferlin_C; Ferlin C-terminus

  8. XM_035519681.1 → XP_035375574.1  dysferlin isoform X5

    UniProtKB/TrEMBL
    A0A4W4HLJ3
    Conserved Domains (11) summary
    cd04011
    Location:222 → 331
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1276
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:384 → 555
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1589 → 1712
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:11 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1823 → 1954
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:945 → 1001
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:788 → 858
    FerB; FerB (NUC096) domain
    pfam08151
    Location:330 → 378
    FerI; FerI (NUC094) domain
    pfam08165
    Location:699 → 756
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1965 → 2055
    Ferlin_C; Ferlin C-terminus
Nucleotide Protein
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