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DYSF dysferlin [ Pyrgilauda ruficollis (rufous-necked snowfinch) ]

Gene ID: 121352039, updated on 3-Aug-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
Gene type
protein coding
RefSeq status
MODEL
Organism
Pyrgilauda ruficollis
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Neoaves; Telluraves; Australaves; Passeriformes; Passeroidea; Passeridae; Pyrgilauda
Orthologs
human mouse all
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Genomic context

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See DYSF in Genome Data Viewer
Location:
chromosome: Un
Exon count:
57
Annotation release Status Assembly Chr Location
100 current ASM1759013v1 (GCF_017590135.1) Unplaced Scaffold NW_024517096.1 (732616..801815, complement)

NW_024517096.1Genomic Context describing neighboring genes Neighboring gene exocyst complex component 6B Neighboring gene cytochrome P450 26B1 Neighboring gene transcription factor COE4-like Neighboring gene C-type lectin domain family 4 member F-like

Genomic regions, transcripts, and products

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Genomic Sequence:
NW_024517096 Unplaced Scaffold Reference ASM1759013v1 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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: Pyrgilauda ruficollis 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 ASM1759013v1 Primary Assembly

Genomic

  1. NW_024517096.1 Reference ASM1759013v1 Primary Assembly

    Range
    732616..801815 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_041464603.1 → XP_041320537.1  dysferlin isoform X8

    Conserved Domains (7) summary
    cd04011
    Location:213 → 322
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1138 → 1266
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:377 → 536
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1563 → 1686
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1797 → 1928
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:928 → 984
    DysFN; Dysferlin domain, N-terminal region

  2. XM_041464599.1 → XP_041320533.1  dysferlin isoform X4

    Conserved Domains (7) summary
    cd04011
    Location:213 → 322
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1138 → 1266
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:377 → 536
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1584 → 1707
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1818 → 1949
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:928 → 984
    DysFN; Dysferlin domain, N-terminal region

  3. XM_041464602.1 → XP_041320536.1  dysferlin isoform X7

    Conserved Domains (7) summary
    cd04011
    Location:213 → 322
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1152 → 1280
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:377 → 550
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1577 → 1700
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1811 → 1942
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:942 → 998
    DysFN; Dysferlin domain, N-terminal region

  4. XM_041464596.1 → XP_041320530.1  dysferlin isoform X2

    Conserved Domains (7) summary
    cd04011
    Location:213 → 322
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1152 → 1280
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:377 → 550
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1598 → 1721
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1832 → 1963
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:942 → 998
    DysFN; Dysferlin domain, N-terminal region

  5. XM_041464597.1 → XP_041320531.1  dysferlin isoform X3

    Conserved Domains (7) summary
    cd04011
    Location:215 → 324
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1140 → 1268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:379 → 538
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1586 → 1709
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1820 → 1951
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:930 → 986
    DysFN; Dysferlin domain, N-terminal region

  6. XM_041464595.1 → XP_041320529.1  dysferlin isoform X1

    Conserved Domains (7) summary
    cd04011
    Location:215 → 324
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1154 → 1282
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:379 → 552
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1600 → 1723
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1834 → 1965
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:944 → 1000
    DysFN; Dysferlin domain, N-terminal region

  7. XM_041464600.1 → XP_041320534.1  dysferlin isoform X5

    Conserved Domains (7) summary
    cd04011
    Location:215 → 324
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1140 → 1268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:379 → 538
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1565 → 1688
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1799 → 1930
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:930 → 986
    DysFN; Dysferlin domain, N-terminal region

  8. XM_041464601.1 → XP_041320535.1  dysferlin isoform X6

    Conserved Domains (7) summary
    cd04011
    Location:215 → 324
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1154 → 1282
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:379 → 552
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1579 → 1702
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1813 → 1944
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:944 → 1000
    DysFN; Dysferlin domain, N-terminal region
Nucleotide Protein
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