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DYSF dysferlin [ Phascolarctos cinereus (koala) ]

Gene ID: 110218445, updated on 15-Mar-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
See related
Ensembl:ENSPCIG00000013799
Gene type
protein coding
RefSeq status
MODEL
Organism
Phascolarctos cinereus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Metatheria; Diprotodontia; Phascolarctidae; Phascolarctos
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:
60
Annotation release Status Assembly Chr Location
100 current phaCin_unsw_v4.1 (GCF_002099425.1) Unplaced Scaffold NW_018344040.1 (5341022..5598615)

NW_018344040.1Genomic Context describing neighboring genes Neighboring gene zinc finger protein 638 Neighboring gene F-actin-capping protein subunit beta pseudogene Neighboring gene uncharacterized protein DDB_G0290685-like Neighboring gene cytochrome c oxidase subunit 6A1, mitochondrial pseudogene

Genomic regions, transcripts, and products

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Genomic Sequence:
NW_018344040 Unplaced Scaffold Reference phaCin_unsw_v4.1 Primary Assembly

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: Phascolarctos cinereus 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 phaCin_unsw_v4.1 Primary Assembly

Genomic

  1. NW_018344040.1 Reference phaCin_unsw_v4.1 Primary Assembly

    Range
    5341022..5598615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_021001167.1 → XP_020856826.1  dysferlin isoform X2

    UniProtKB/TrEMBL
    A0A6P5LLV1
    Conserved Domains (12) summary
    cd04011
    Location:246 → 355
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1183 → 1308
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:409 → 583
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1649 → 1772
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1883 → 2014
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:977 → 1033
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:818 → 890
    FerB; FerB (NUC096) domain
    pfam08151
    Location:353 → 403
    FerI; FerI (NUC094) domain
    pfam08165
    Location:727 → 784
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2027 → 2114
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1377 → 1753
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  2. XM_021001176.1 → XP_020856835.1  dysferlin isoform X11

    UniProtKB/TrEMBL
    A0A6P5LEQ9
    Conserved Domains (12) summary
    cd04011
    Location:246 → 355
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1183 → 1308
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:409 → 583
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1610 → 1733
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1844 → 1975
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:977 → 1033
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:818 → 890
    FerB; FerB (NUC096) domain
    pfam08151
    Location:353 → 403
    FerI; FerI (NUC094) domain
    pfam08165
    Location:727 → 784
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1988 → 2075
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1363 → 1714
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  3. XM_021001178.1 → XP_020856837.1  dysferlin isoform X12

    UniProtKB/TrEMBL
    A0A6P5LFG9
    Related
    ENSPCIP00000037357.2, ENSPCIT00000046009.2
    Conserved Domains (12) summary
    cd04011
    Location:246 → 355
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1169 → 1294
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:409 → 569
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1596 → 1719
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 133
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1830 → 1961
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:963 → 1019
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:804 → 876
    FerB; FerB (NUC096) domain
    pfam08151
    Location:353 → 403
    FerI; FerI (NUC094) domain
    pfam08165
    Location:713 → 770
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1974 → 2061
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1349 → 1700
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  4. XM_021001166.1 → XP_020856825.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    A0A6P5LEP9
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1185 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 585
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1651 → 1774
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1885 → 2016
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:979 → 1035
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:820 → 892
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:729 → 786
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2029 → 2116
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1379 → 1755
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  5. XM_021001168.1 → XP_020856827.1  dysferlin isoform X3

    UniProtKB/TrEMBL
    A0A6P5LFF7
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1185 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 585
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1647 → 1770
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1881 → 2012
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:979 → 1035
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:820 → 892
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:729 → 786
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2025 → 2112
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1379 → 1751
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  6. XM_021001171.1 → XP_020856830.1  dysferlin isoform X6

    UniProtKB/TrEMBL
    A0A6P5LEQ4
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1185 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 585
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1626 → 1749
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1860 → 1991
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:979 → 1035
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:820 → 892
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:729 → 786
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2004 → 2091
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1379 → 1730
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  7. XM_021001170.1 → XP_020856829.1  dysferlin isoform X5

    UniProtKB/TrEMBL
    A0A6P5LJW3
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1185 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 585
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1637 → 1760
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1871 → 2002
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:979 → 1035
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:820 → 892
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:729 → 786
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2015 → 2102
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1365 → 1741
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  8. XM_021001174.1 → XP_020856833.1  dysferlin isoform X9

    UniProtKB/TrEMBL
    A0A6P5LG39
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1185 → 1310
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 585
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1612 → 1735
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1846 → 1977
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:979 → 1035
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:820 → 892
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:729 → 786
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1990 → 2077
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1365 → 1716
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  9. XM_021001169.1 → XP_020856828.1  dysferlin isoform X4

    UniProtKB/TrEMBL
    A0A6P5LG34
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1171 → 1296
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1637 → 1760
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1871 → 2002
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:965 → 1021
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:806 → 878
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2015 → 2102
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1365 → 1741
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  10. XM_021001172.1 → XP_020856831.1  dysferlin isoform X7

    UniProtKB/TrEMBL
    A0A6P5LLV5
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1171 → 1296
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1623 → 1746
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1857 → 1988
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:965 → 1021
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:806 → 878
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:2001 → 2088
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1351 → 1727
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  11. XM_021001175.1 → XP_020856834.1  dysferlin isoform X10

    UniProtKB/TrEMBL
    A0A6P5LJW8
    Related
    ENSPCIP00000037494.2, ENSPCIT00000046190.2
    Conserved Domains (12) summary
    cd04011
    Location:248 → 357
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1171 → 1296
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411 → 571
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1598 → 1721
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1832 → 1963
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:965 → 1021
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:806 → 878
    FerB; FerB (NUC096) domain
    pfam08151
    Location:355 → 405
    FerI; FerI (NUC094) domain
    pfam08165
    Location:715 → 772
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1976 → 2063
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1351 → 1702
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  12. XM_021001173.1 → XP_020856832.1  dysferlin isoform X8

    UniProtKB/TrEMBL
    A0A6P5LFG4
    Conserved Domains (12) summary
    cd04011
    Location:217 → 326
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1154 → 1279
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380 → 554
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1620 → 1743
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 135
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1854 → 1985
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:948 → 1004
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:789 → 861
    FerB; FerB (NUC096) domain
    pfam08151
    Location:324 → 374
    FerI; FerI (NUC094) domain
    pfam08165
    Location:698 → 755
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1998 → 2085
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1348 → 1724
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
Nucleotide Protein
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