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DYSF dysferlin [ Nipponia nippon (crested ibis) ]

Gene ID: 104019166, updated on 3-Aug-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
Locus tag
Y956_05147
Gene type
protein coding
RefSeq status
MODEL
Organism
Nipponia nippon
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Neoaves; Aequornithes; Pelecaniformes; Threskiornithidae; Nipponia
Annotation information
Annotation category: partial on reference assembly
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: Un
Exon count:
53
Annotation release Status Assembly Chr Location
100 current ASM70822v1 (GCF_000708225.1) Unplaced Scaffold NW_009002464.1 (2173..97130)

NW_009002464.1Genomic 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_009002464.1 Unplaced Scaffold Reference ASM70822v1 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: Nipponia nippon 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 ASM70822v1 Primary Assembly

Genomic

  1. NW_009002464.1 Reference ASM70822v1 Primary Assembly

    Range
    2173..97130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_009472395.1 → XP_009470670.1  dysferlin

    UniProtKB/TrEMBL
    A0A091WVA6
    Conserved Domains (11) summary
    cd04011
    Location:134 → 243
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1069 → 1197
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:297 → 471
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1516 → 1639
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08374
    Location:1750 → 1881
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:863 → 919
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:704 → 776
    FerB; FerB (NUC096) domain
    pfam08151
    Location:241 → 291
    FerI; FerI (NUC094) domain
    pfam08165
    Location:615 → 672
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1894 → 1988
    Ferlin_C; Ferlin C-terminus
    cl14603
    Location:1 → 54
    C2; C2 domain
Nucleotide Protein
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