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dysf dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Polypterus senegalus (gray bichir) ]

Gene ID: 120527940, updated on 8-May-2024

Summary

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Gene symbol
dysf
Gene description
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Locus tag
GTO96_0016992
See related
EnsemblRapid:ENSSTSG00000004180
Gene type
protein coding
RefSeq status
MODEL
Organism
Polypterus senegalus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Polypteriformes; Polypteridae; Polypterus
Orthologs
human zebrafish all
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Genomic context

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See dysf in Genome Data Viewer
Location:
chromosome: 4
Exon count:
60
Annotation release Status Assembly Chr Location
100 current ASM1683550v1 (GCF_016835505.1) 4 NC_053157.1 (209102001..209464566)

Chromosome 4 - NC_053157.1Genomic Context describing neighboring genes Neighboring gene calcium uniporter protein, mitochondrial-like Neighboring gene uncharacterized LOC120527941 Neighboring gene cytochrome P450 26B1 Neighboring gene uncharacterized LOC120527943

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_053157.1 Chromosome 4 Reference ASM1683550v1 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

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Polypterus senegalus Annotation Release 100 details...Open this link in a new tab

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

Reference ASM1683550v1 Primary Assembly

Genomic

  1. NC_053157.1 Reference ASM1683550v1 Primary Assembly

    Range
    209102001..209464566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_039751919.1 → XP_039607853.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A8X8BT77
    Conserved Domains (8) summary
    cd04011
    Location:212 → 321
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1146 → 1274
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:375 → 547
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1613 → 1736
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1847 → 1978
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:871 → 929
    DysFN; Dysferlin domain, N-terminal region
    COG5038
    Location:1468 → 1703
    COG5038; Ca2+-dependent lipid-binding protein, contains C2 domain [General function prediction only]

  2. XM_039751924.1 → XP_039607858.1  dysferlin isoform X5

    UniProtKB/TrEMBL
    A0A8X8BT77
    Related
    ENSSTSP00000007606.1, ENSSTST00000009665.1
    Conserved Domains (7) summary
    cd04011
    Location:212 → 321
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1134 → 1262
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:375 → 535
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1575 → 1698
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1809 → 1940
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:859 → 917
    DysFN; Dysferlin domain, N-terminal region

  3. XM_039751920.1 → XP_039607854.1  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A8X8BT77
    Conserved Domains (7) summary
    cd04011
    Location:214 → 323
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1276
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:377 → 549
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1610 → 1733
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:7 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1844 → 1975
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:873 → 931
    DysFN; Dysferlin domain, N-terminal region

  4. XM_039751921.1 → XP_039607855.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A8X8BT77
    Conserved Domains (7) summary
    cd04011
    Location:214 → 323
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1148 → 1276
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:377 → 549
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1589 → 1712
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:7 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1823 → 1954
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:873 → 931
    DysFN; Dysferlin domain, N-terminal region

  5. XM_039751922.1 → XP_039607856.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A8X8BT77
    Related
    ENSSTSP00000007269.1, ENSSTST00000009244.1
    Conserved Domains (7) summary
    cd04011
    Location:214 → 323
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1136 → 1264
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:377 → 537
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1577 → 1700
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:7 → 137
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1811 → 1942
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:861 → 919
    DysFN; Dysferlin domain, N-terminal region
Nucleotide Protein
Heading Accession and Version

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