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DYSF dysferlin [ Cyanistes caeruleus (blue tit) ]

Gene ID: 111929145, updated on 3-Aug-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
See related
Ensembl:ENSCCEG00000011861
Gene type
protein coding
RefSeq status
MODEL
Organism
Cyanistes caeruleus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Neoaves; Telluraves; Australaves; Passeriformes; Paridae; Cyanistes
Orthologs
human mouse all
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Genomic context

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See DYSF in Genome Data Viewer
Location:
chromosome: 4
Exon count:
57
Annotation release Status Assembly Chr Location
100 current cyaCae2 (GCF_002901205.1) 4 Unlocalized Scaffold NW_019776388.1 (4811256..4888528, complement)

NW_019776388.1Genomic Context describing neighboring genes Neighboring gene cytochrome P450 26B1 Neighboring gene uncharacterized LOC111929182 Neighboring gene transcription factor COE4-like Neighboring gene adipose secreted signaling protein

Genomic regions, transcripts, and products

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Genomic Sequence:
NW_019776388 Chromosome 4 Unlocalized Scaffold Reference cyaCae2

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: Cyanistes caeruleus 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 cyaCae2

Genomic

  1. NW_019776388.1 Reference cyaCae2

    Range
    4811256..4888528 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_023926663.1 → XP_023782431.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A8C0V887
    Related
    ENSCCEP00000018046.1, ENSCCET00000027719.1
    Conserved Domains (11) 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
    pfam08150
    Location:771 → 843
    FerB; FerB (NUC096) domain
    pfam08151
    Location:322 → 372
    FerI; FerI (NUC094) domain
    pfam08165
    Location:682 → 739
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1943 → 2031
    Ferlin_C; Ferlin C-terminus

  2. XM_023926661.1 → XP_023782429.1  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A8C0ZGA1
    Conserved Domains (11) 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:1587 → 1710
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1821 → 1952
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:930 → 986
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:771 → 843
    FerB; FerB (NUC096) domain
    pfam08151
    Location:322 → 372
    FerI; FerI (NUC094) domain
    pfam08165
    Location:682 → 739
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1965 → 2053
    Ferlin_C; Ferlin C-terminus

  3. XM_023926660.1 → XP_023782428.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A8C0ZGA1
    Conserved Domains (11) 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:1614 → 1737
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1848 → 1979
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:944 → 1000
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:785 → 857
    FerB; FerB (NUC096) domain
    pfam08151
    Location:322 → 372
    FerI; FerI (NUC094) domain
    pfam08165
    Location:696 → 753
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1992 → 2080
    Ferlin_C; Ferlin C-terminus

  4. XM_023926662.1 → XP_023782430.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A8C0ZGA1
    Related
    ENSCCEP00000018259.1, ENSCCET00000028010.1
    Conserved Domains (11) 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:1580 → 1703
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1814 → 1945
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:944 → 1000
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:785 → 857
    FerB; FerB (NUC096) domain
    pfam08151
    Location:322 → 372
    FerI; FerI (NUC094) domain
    pfam08165
    Location:696 → 753
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1958 → 2046
    Ferlin_C; Ferlin C-terminus
Nucleotide Protein
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