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DYSF dysferlin [ Athene cunicularia (burrowing owl) ]

Gene ID: 113479132, updated on 3-Aug-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
See related
Ensembl:ENSACUG00000013062
Gene type
protein coding
RefSeq status
MODEL
Organism
Athene cunicularia
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Neoaves; Telluraves; Strigiformes; Strigidae; Athene
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:
53
Annotation release Status Assembly Chr Location
100 current athCun1 (GCF_003259725.1) 4 Unlocalized Scaffold NW_020799098.1 (1670..88510)

NW_020799098.1Genomic Context describing neighboring genes Neighboring gene cytochrome P450 26B1 Neighboring gene exocyst complex component 6B

Genomic regions, transcripts, and products

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Genomic Sequence:
NW_020799098 Chromosome 4 Unlocalized Scaffold Reference athCun1

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: Athene cunicularia 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 athCun1

Genomic

  1. NW_020799098.1 Reference athCun1

    Range
    1670..88510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_026846857.1 → XP_026702658.1  dysferlin

    UniProtKB/TrEMBL
    A0A663N8N5
    Related
    ENSACUP00000020794.1, ENSACUT00000022171.1
    Conserved Domains (11) summary
    cd04011
    Location:150 → 259
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1027 → 1155
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:313 → 487
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1476 → 1579
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1690 → 1820
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:808 → 866
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:720 → 792
    FerB; FerB (NUC096) domain
    pfam08151
    Location:257 → 307
    FerI; FerI (NUC094) domain
    pfam08165
    Location:635 → 688
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1834 → 1947
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:16 → 61
    C2; C2 domain
Nucleotide Protein
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