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DYSF dysferlin [ Otolemur garnettii (small-eared galago) ]

Gene ID: 100955034, updated on 8-Mar-2024

Summary

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Gene symbol
DYSF
Gene description
dysferlin
See related
Ensembl:ENSOGAG00000001155
Gene type
protein coding
RefSeq status
MODEL
Organism
Otolemur garnettii
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Strepsirrhini; Lorisiformes; Galagidae; Otolemur
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:
58
Annotation release Status Assembly Chr Location
102 current OtoGar3 (GCF_000181295.1) Unplaced Scaffold NW_003852463.1 (4299929..4515169, complement)

NW_003852463.1Genomic Context describing neighboring genes Neighboring gene cytochrome P450 family 26 subfamily B member 1 Neighboring gene 60S ribosomal protein L31 pseudogene Neighboring gene U1 spliceosomal RNA Neighboring gene ADP-sugar pyrophosphatase-like Neighboring gene zinc finger protein 638

Genomic regions, transcripts, and products

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Genomic Sequence:
NW_003852463 Unplaced Scaffold Reference OtoGar3

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
Names
dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: Otolemur garnettii Annotation Release 102 details...Open this link in a new tab

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

Reference OtoGar3

Genomic

  1. NW_003852463.1 Reference OtoGar3

    Range
    4299929..4515169 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_012807420.1 → XP_012662874.1  dysferlin isoform X14

    Conserved Domains (11) 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 → 131
    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
    pfam08150
    Location:789 → 861
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:700 → 757
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1959 → 2045
    Ferlin_C; Ferlin C-terminus

  2. XM_012807419.1 → XP_012662873.1  dysferlin isoform X12

    Conserved Domains (11) 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:1602 → 1725
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 131
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1836 → 1967
    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:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:700 → 757
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1980 → 2066
    Ferlin_C; Ferlin C-terminus

  3. XM_012807414.1 → XP_012662868.1  dysferlin isoform X2

    Conserved Domains (11) summary
    cd04011
    Location:250 → 359
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1171 → 1299
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:413 → 573
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1619 → 1742
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 131
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1853 → 1984
    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:357 → 407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:717 → 774
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1997 → 2083
    Ferlin_C; Ferlin C-terminus

  4. XM_012807418.1 → XP_012662872.1  dysferlin isoform X10

    Conserved Domains (11) summary
    cd04011
    Location:250 → 359
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1185 → 1313
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:413 → 587
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1612 → 1735
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 131
    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:357 → 407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:731 → 788
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1990 → 2076
    Ferlin_C; Ferlin C-terminus

  5. XM_012807417.1 → XP_012662871.1  dysferlin isoform X8

    Conserved Domains (11) 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:1567 → 1690
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 131
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1801 → 1932
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:934 → 990
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:775 → 847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:686 → 743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1945 → 2031
    Ferlin_C; Ferlin C-terminus

  6. XM_012807416.1 → XP_012662870.1  dysferlin isoform X6

    Conserved Domains (11) 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 → 131
    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
    pfam08150
    Location:775 → 847
    FerB; FerB (NUC096) domain
    pfam08151
    Location:326 → 376
    FerI; FerI (NUC094) domain
    pfam08165
    Location:686 → 743
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1966 → 2052
    Ferlin_C; Ferlin C-terminus

  7. XM_012807415.1 → XP_012662869.1  dysferlin isoform X4

    Conserved Domains (11) summary
    cd04011
    Location:250 → 359
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1171 → 1299
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:413 → 573
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1598 → 1721
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20 → 131
    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:357 → 407
    FerI; FerI (NUC094) domain
    pfam08165
    Location:717 → 774
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1976 → 2062
    Ferlin_C; Ferlin C-terminus

  8. XM_023515275.1 → XP_023371043.1  dysferlin isoform X7

    Conserved Domains (12) 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 → 132
    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
    pfam08150
    Location:776 → 848
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327 → 377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:687 → 744
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1946 → 2033
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1162 → 1422
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  9. XM_023515274.1 → XP_023371042.1  dysferlin isoform X5

    Conserved Domains (12) 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:1589 → 1712
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 132
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1823 → 1954
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:935 → 991
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:776 → 848
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327 → 377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:687 → 744
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1967 → 2054
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1162 → 1422
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  10. XM_023515273.1 → XP_023371041.1  dysferlin isoform X3

    Conserved Domains (12) summary
    cd04011
    Location:251 → 360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1172 → 1300
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414 → 574
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1599 → 1722
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 132
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1833 → 1964
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:966 → 1022
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:807 → 879
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358 → 408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:718 → 775
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1977 → 2064
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1193 → 1453
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  11. XM_023515272.1 → XP_023371040.1  dysferlin isoform X1

    UniProtKB/TrEMBL
    H0WI03
    Related
    ENSOGAP00000001034.2, ENSOGAT00000001158.2
    Conserved Domains (12) summary
    cd04011
    Location:251 → 360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1172 → 1300
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414 → 574
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1620 → 1743
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 132
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1854 → 1985
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:966 → 1022
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:807 → 879
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358 → 408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:718 → 775
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1998 → 2085
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1193 → 1453
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  12. XM_023515278.1 → XP_023371046.1  dysferlin isoform X13

    Conserved Domains (12) 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:1582 → 1705
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 132
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1816 → 1947
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:949 → 1005
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:790 → 862
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327 → 377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:701 → 758
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1960 → 2047
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1176 → 1436
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  13. XM_023515277.1 → XP_023371045.1  dysferlin isoform X11

    Conserved Domains (12) 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 → 132
    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
    pfam08150
    Location:790 → 862
    FerB; FerB (NUC096) domain
    pfam08151
    Location:327 → 377
    FerI; FerI (NUC094) domain
    pfam08165
    Location:701 → 758
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1981 → 2068
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1176 → 1436
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

  14. XM_023515276.1 → XP_023371044.1  dysferlin isoform X9

    Conserved Domains (12) summary
    cd04011
    Location:251 → 360
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:1186 → 1314
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:414 → 588
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:1613 → 1736
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5 → 132
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:1847 → 1978
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:980 → 1036
    DysFN; Dysferlin domain, N-terminal region
    pfam08150
    Location:821 → 893
    FerB; FerB (NUC096) domain
    pfam08151
    Location:358 → 408
    FerI; FerI (NUC094) domain
    pfam08165
    Location:732 → 789
    FerA; FerA (NUC095) domain
    pfam16165
    Location:1991 → 2078
    Ferlin_C; Ferlin C-terminus
    cl27773
    Location:1207 → 1467
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
Nucleotide Protein
Heading Accession and Version

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