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DYSF dysferlin [ Ursus maritimus (polar bear) ]

Gene ID: 103671383, updated on 11-Mar-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
See related
Ensembl:ENSUMAG00000022152
Gene type
protein coding
RefSeq status
MODEL
Organism
Ursus maritimus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Caniformia; Ursidae; Ursus
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: Un
Exon count:
57
Annotation release Status Assembly Chr Location
101 current ASM1731132v1 (GCF_017311325.1) Unplaced Scaffold NW_024426774.1 (49574812..49778292, complement)
100 previous assembly UrsMar_1.0 (GCF_000687225.1) Unplaced Scaffold NW_007907179.1 (27779200..27982097)

NW_024426774.1Genomic Context describing neighboring genes Neighboring gene cytochrome P450 26B1 Neighboring gene small nucleolar RNA U3 Neighboring gene U6 spliceosomal RNA Neighboring gene zinc finger protein 638 Neighboring gene poly(A) binding protein interacting protein 2B

Genomic regions, transcripts, and products

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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: Ursus maritimus Annotation Release 101 details...Open this link in a new tab

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

Reference ASM1731132v1 Primary Assembly

Genomic

  1. NW_024426774.1 Reference ASM1731132v1 Primary Assembly

    Range
    49574812..49778292 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_008699984.2 → XP_008698206.2  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A384CTR4, A0A452VBH2
    Conserved Domains (8) summary
    cd04011
    Location:219 → 328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1140 → 1268
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 542
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1588 → 1711
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1822 → 1953
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934 → 990
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1336 → 1424
    C2; C2 domain

  2. XM_040623327.1 → XP_040479261.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A452VBN8, A0A8M1F7D3
    Conserved Domains (8) summary
    cd04011
    Location:219 → 328
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1154 → 1282
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:382 → 556
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1581 → 1704
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1815 → 1946
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:948 → 1004
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1350 → 1438
    C2; C2 domain

  3. XM_040623325.1 → XP_040479259.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A452VBH2, A0A8M1FEW3
    Conserved Domains (8) summary
    cd04011
    Location:220 → 329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1155 → 1283
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:383 → 557
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1603 → 1726
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1837 → 1968
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:949 → 1005
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1351 → 1439
    C2; C2 domain

  4. XM_040623326.1 → XP_040479260.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A452VBN8, A0A8M1FAM7
    Conserved Domains (8) summary
    cd04011
    Location:220 → 329
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1141 → 1269
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:383 → 543
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1568 → 1691
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 136
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1802 → 1933
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:935 → 991
    DysFN; Dysferlin domain, N-terminal region
    cl14603
    Location:1337 → 1425
    C2; C2 domain
Nucleotide Protein
Heading Accession and Version

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