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    DYSF dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) [ Homo sapiens ]

    Gene ID: 8291, updated on 20-May-2012
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    Summary

    Official Symbol
    DYSFprovided by HGNC
    Official Full Name
    dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)provided by HGNC
    Primary source
    HGNC:3097
    See related
    Ensembl:ENSG00000135636; HPRD:04307; MIM:603009; Vega:OTTHUMG00000129757
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MMD1; FER1L1; LGMD2B; FLJ00175; FLJ90168
    Summary
    The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
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    Genomic context

    Location :
    2p13.3
    Sequence :
    Chromosome: 2; NC_000002.11 (71680753..71913893)
    See DYSF in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene poly(A) binding protein interacting protein 2B Neighboring gene ZNF638 intronic transcript 1 (non-protein coding) Neighboring gene zinc finger protein 638 Neighboring gene ribosomal protein S20 pseudogene 10 Neighboring gene cytochrome P450, family 26, subfamily B, polypeptide 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells. Azakir BA, et al. J Biol Chem, 2012 Mar 23. PMID 22318734.
    2. Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation. Di Fulvio S, et al. PLoS One, 2011. PMID 22174839.
    3. Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cells. Xu L, et al. PLoS One, 2011. PMID 22110769.
    4. Unmasking potential intracellular roles for dysferlin through improved immunolabeling methods. Roche JA, et al. J Histochem Cytochem, 2011 Nov. PMID 22043020.
    5. Proteomic identification of dysferlin-interacting protein complexes in human vascular endothelium. Leung C, et al. Biochem Biophys Res Commun, 2011 Nov 18. PMID 22037454.

    See all (90) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Inhibition of the proteasome by lactacystin or Velcade increases the levels of R555W mis-sense mutated dysferlin.
      Title: Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.
    2. This study suggests a novel role for dysferlin in myogenesis and identifies HDAC6 as a novel dysferlin-interacting protein.
      Title: Dysferlin interacts with histone deacetylase 6 and increases alpha-tubulin acetylation.
    3. C2 domains mediate high affinity self-association of dysferlin in a parallel homodimer
      Title: Dysferlin forms a dimer mediated by the C2 domains and the transmembrane domain in vitro and in living cells.
    4. Studies indicate that dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene, encoding the dysferlin protein.
      Title: Translational research and therapeutic perspectives in dysferlinopathies.
    5. these data further support the claims that dysferlin not only mediates membrane repair but also trafficking of client proteins, ultimately, help bridging dysferlinopathies to aberrant membrane signaling.
      Title: Proteomic identification of dysferlin-interacting protein complexes in human vascular endothelium.
    6. This study presents the first direct and conclusive evidence that an amount of Dysferlin </=20% is pathogenic and always caused by primary dysferlin gene mutations.
      Title: Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
    7. Data suggest dysferlin has an important function in the internal membrane systems of skeletal muscle, involved in calcium homeostasis and excitation-contraction coupling.
      Title: Unmasking potential intracellular roles for dysferlin through improved immunolabeling methods.
    8. A simple and rapid screening method to detect hot spot mutations in the dysferlin gene is essential for the diagnosis of dysferlinopathy.
      Title: Rapid screening for Japanese dysferlinopathy by fluorescent primer extension.
    9. A novel mutation in exon 47 (c.5289G>C) of the dysferlin gene in the heterozygous state, causing an amino acid change (p.Glu1763Asp), was detected in 2 patients
      Title: Abnormal expression of dysferlin in skeletal muscle and monocytes supports primary dysferlinopathy in patients with one mutated allele.
    10. A new computational method establishes an increase in the mean average prediction precision for dysferlin protein partners, which is important for new targeted therapies.
      Title: In silico discovery and experimental validation of new protein-protein interactions.
    Submit: New GeneRIF Correction See all (72)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide association study identifies protein quantitative trait loci (pQTLs).

    Miyoshi muscular dystrophy 1

    Muscular dystrophy, limb-girdle, type 2B

    Myopathy, distal, with anterior tibial onset

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O75923 P04083 ANXA1    HPRD  PubMed  
    O75923 P07355 ANXA2    HPRD  PubMed  
    O75923 P20807 CAPN3    HPRD  PubMed  
    O75923 P56539 CAV3    HPRD  PubMed  
    BioGRID:113896 BioGRID:107307 CAV3    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:113896 BioGRID:115330 HDAC6    BioGRID  PubMed Affinity Capture-Western 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium-dependent phospholipid binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    dysferlin
    Names
    dysferlin
    fer-1-like protein 1
    dystrophy-associated fer-1-like 1
    dystrophy-associated fer-1-like protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008694.1 RefSeqGene

      Range
      5001..238141
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130455.1 → NP_001123927.1  dysferlin isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AF075575, DB292971, DQ267935
      Consensus CDS
      CCDS46331.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000377678, OTTHUMP00000202234, ENST00000394120, OTTHUMT00000327473
      Conserved Domains (10) summary
      pfam08150
      Location:787 – 862
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:947 – 1003
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:304 – 375
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:695 – 760
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:218 – 327
      Blast Score: 485
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1153 – 1281
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 – 555
      Blast Score: 612
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1580 – 1703
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 – 124
      Blast Score: 392
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1814 – 1945
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    2. NM_001130976.1 → NP_001124448.1  dysferlin isoform 9

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (9) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AI128455, AI192657, AK074649, DB292971, EU515156
      UniProtKB/Swiss-Prot
      O75923
      Conserved Domains (10) summary
      pfam08150
      Location:772 – 847
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:932 – 988
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:303 – 374
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:680 – 745
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:217 – 326
      Blast Score: 485
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1138 – 1266
      Blast Score: 558
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 – 540
      Blast Score: 645
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1565 – 1688
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 – 123
      Blast Score: 347
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1799 – 1930
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    3. NM_001130977.1 → NP_001124449.1  dysferlin isoform 10

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (10) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AI192657, AI739271, AK074649, DB292971, EU515159
      UniProtKB/Swiss-Prot
      O75923
      Conserved Domains (10) summary
      pfam08150
      Location:772 – 847
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:932 – 988
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:303 – 374
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:680 – 745
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:217 – 326
      Blast Score: 485
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1138 – 1266
      Blast Score: 558
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 – 540
      Blast Score: 645
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1586 – 1709
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 – 123
      Blast Score: 347
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1820 – 1951
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    4. NM_001130978.1 → NP_001124450.1  dysferlin isoform 11

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (11) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AI128455, AI192657, AK074649, DB292971, EU515157
      Consensus CDS
      CCDS46326.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000398305, OTTHUMP00000225471, ENST00000429174, OTTHUMT00000376569
      Conserved Domains (10) summary
      pfam08150
      Location:786 – 861
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:946 – 1002
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:303 – 374
      Blast Score: 322
      FerI; FerI (NUC094) domain
      pfam08165
      Location:694 – 759
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:217 – 326
      Blast Score: 485
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1152 – 1280
      Blast Score: 558
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 – 554
      Blast Score: 612
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1600 – 1723
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 – 123
      Blast Score: 347
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1834 – 1965
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    5. NM_001130979.1 → NP_001124451.1  dysferlin isoform 12

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (12) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AI128455, AI192657, AK074649, DB292971, EU515155
      Consensus CDS
      CCDS46323.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000407046, OTTHUMP00000225494, ENST00000413539, OTTHUMT00000376611
      Conserved Domains (10) summary
      pfam08150
      Location:817 – 892
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:977 – 1033
      Blast Score: 173
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:334 – 405
      Blast Score: 322
      FerI; FerI (NUC094) domain
      pfam08165
      Location:725 – 790
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:248 – 357
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1183 – 1311
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411 – 585
      Blast Score: 612
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1610 – 1733
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 – 123
      Blast Score: 347
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1844 – 1975
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    6. NM_001130980.1 → NP_001124452.1  dysferlin isoform 13

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (13) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AI128455, AI192657, AK074649, DB292971, EU515158
      Consensus CDS
      CCDS46325.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000387137, OTTHUMP00000202235, ENST00000409762, OTTHUMT00000327474
      Conserved Domains (10) summary
      pfam08150
      Location:803 – 878
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:963 – 1019
      Blast Score: 173
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:334 – 405
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:711 – 776
      Blast Score: 203
      FerA; FerA (NUC095) domain
      cd04011
      Location:248 – 357
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1169 – 1297
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411 – 571
      Blast Score: 645
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1596 – 1719
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 – 123
      Blast Score: 347
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1830 – 1961
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    7. NM_001130981.1 → NP_001124453.1  dysferlin isoform 14

      Status: REVIEWED

      Description
      Transcript Variant: This variant (14) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (14) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AI128455, AI192657, AK074649, DB292971, EU515160
      Consensus CDS
      CCDS46324.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386547, OTTHUMP00000202241, ENST00000409582, OTTHUMT00000327480
      Conserved Domains (10) summary
      pfam08150
      Location:803 – 878
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:963 – 1019
      Blast Score: 173
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:334 – 405
      Blast Score: 322
      FerI; FerI (NUC094) domain
      pfam08165
      Location:711 – 776
      Blast Score: 203
      FerA; FerA (NUC095) domain
      cd04011
      Location:248 – 357
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1169 – 1297
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411 – 571
      Blast Score: 645
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1617 – 1740
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 – 123
      Blast Score: 347
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1851 – 1982
      Blast Score: 619
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    8. NM_001130982.1 → NP_001124454.1  dysferlin isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 7 which is shorter than isoform 1.
      Source sequence(s)
      AF075575, DB292971, EU515161
      Consensus CDS
      CCDS46327.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386683, OTTHUMP00000202233, ENST00000409651, OTTHUMT00000327472
      Conserved Domains (10) summary
      pfam08150
      Location:818 – 893
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:978 – 1034
      Blast Score: 173
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:335 – 406
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:726 – 791
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:249 – 358
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1184 – 1312
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412 – 586
      Blast Score: 613
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1611 – 1734
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 – 124
      Blast Score: 392
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1845 – 1976
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    9. NM_001130983.1 → NP_001124455.1  dysferlin isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 6 which is shorter than isoform 1.
      Source sequence(s)
      AF075575, AK074649, DB292971, EU515157, EU515163
      Consensus CDS
      CCDS46330.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386512, OTTHUMP00000202237, ENST00000409366, OTTHUMT00000327476
      Conserved Domains (10) summary
      pfam08150
      Location:787 – 862
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:947 – 1003
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:304 – 375
      Blast Score: 322
      FerI; FerI (NUC094) domain
      pfam08165
      Location:695 – 760
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:218 – 327
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1153 – 1281
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 – 555
      Blast Score: 613
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1601 – 1724
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 – 124
      Blast Score: 392
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1835 – 1966
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    10. NM_001130984.1 → NP_001124456.1  dysferlin isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 5 which is shorter than isoform 1.
      Source sequence(s)
      AF075575, AK074649, DB292971, EU515157, EU515165
      Consensus CDS
      CCDS46332.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386285, OTTHUMP00000202236, ENST00000409744, OTTHUMT00000327475
      Conserved Domains (10) summary
      pfam08150
      Location:773 – 848
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:933 – 989
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:304 – 375
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:681 – 746
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:218 – 327
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1139 – 1267
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 – 541
      Blast Score: 646
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1587 – 1710
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 – 124
      Blast Score: 392
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1821 – 1952
      Blast Score: 619
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    11. NM_001130985.1 → NP_001124457.1  dysferlin isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4 which is shorter than isoform 1.
      Source sequence(s)
      AF075575, DB292971, EU515164
      Consensus CDS
      CCDS46329.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386617, OTTHUMP00000202240, ENST00000410041, OTTHUMT00000327479
      Conserved Domains (10) summary
      pfam08150
      Location:804 – 879
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:964 – 1020
      Blast Score: 173
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:335 – 406
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:712 – 777
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:249 – 358
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1170 – 1298
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412 – 572
      Blast Score: 646
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1597 – 1720
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 – 124
      Blast Score: 392
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1831 – 1962
      Blast Score: 619
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    12. NM_001130986.1 → NP_001124458.1  dysferlin isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 3 which is shorter than isoform 1.
      Source sequence(s)
      AF075575, DB292971, EU515162
      UniProtKB/Swiss-Prot
      O75923
      Conserved Domains (10) summary
      pfam08150
      Location:773 – 848
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:933 – 989
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:304 – 375
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:681 – 746
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:218 – 327
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1139 – 1267
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381 – 541
      Blast Score: 645
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1566 – 1689
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 – 124
      Blast Score: 392
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1800 – 1931
      Blast Score: 619
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    13. NM_001130987.1 → NP_001124459.1  dysferlin isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AF075575, AK074649, DB292971, EU515157, EU515166
      Consensus CDS
      CCDS46328.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000386881, OTTHUMP00000202238, ENST00000410020, OTTHUMT00000327477
      Conserved Domains (10) summary
      pfam08150
      Location:804 – 879
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:964 – 1020
      Blast Score: 173
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:335 – 406
      Blast Score: 322
      FerI; FerI (NUC094) domain
      pfam08165
      Location:712 – 777
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:249 – 358
      Blast Score: 486
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1170 – 1298
      Blast Score: 559
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412 – 572
      Blast Score: 646
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1618 – 1741
      Blast Score: 584
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5 – 124
      Blast Score: 393
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1852 – 1983
      Blast Score: 619
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    14. NM_003494.3 → NP_003485.1  dysferlin isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (8) with an alternate N-terminus compared to isoform 1.
      Source sequence(s)
      AF075575, AI128455, AI192657, DB292971
      Consensus CDS
      CCDS1918.1
      UniProtKB/Swiss-Prot
      O75923
      Related
      ENSP00000258104, OTTHUMP00000160176, ENST00000258104, OTTHUMT00000251970
      Conserved Domains (10) summary
      pfam08150
      Location:786 – 861
      Blast Score: 390
      FerB; FerB (NUC096) domain
      smart00693
      Location:946 – 1002
      Blast Score: 174
      DysFN; Dysferlin domain, N-terminal region.
      pfam08151
      Location:303 – 374
      Blast Score: 323
      FerI; FerI (NUC094) domain
      pfam08165
      Location:694 – 759
      Blast Score: 202
      FerA; FerA (NUC095) domain
      cd04011
      Location:217 – 326
      Blast Score: 485
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:1152 – 1280
      Blast Score: 558
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380 – 554
      Blast Score: 612
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:1579 – 1702
      Blast Score: 583
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20 – 123
      Blast Score: 346
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:1813 – 1944
      Blast Score: 618
      C2F_Ferlin; C2 domain sixth repeat in Ferlin

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      71680753..71913893
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      71417813..71651420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010147.11 AAY14954.1
    genomic AC104084.5 AAY24199.1
    genomic AJ007973.1 CAA07800.1
    genomic AJ566204.1 CAD92859.1
    genomic CH471053.2 EAW99763.1
      EAW99764.1
      EAW99765.1
    genomic HQ222984.1 ADQ57464.1
    mRNA AF075575.1 AAC63519.1
    mRNA AI128455.1 None
    mRNA AI192657.1 None
    mRNA AI739271.1 None
    mRNA AK074104.1 BAB84930.1
    mRNA AK074442.1 BAB85086.1
    mRNA AK074649.1 BAG51981.1
    mRNA AK295004.1 BAH11947.1
    mRNA AK303364.1 BAH13950.1
    mRNA AK310739.1 None
    mRNA BC038246.1 None
    mRNA BC171803.1 None
    mRNA DB292971.1 None
    mRNA DQ267935.1 ABB89736.1
    mRNA EU515155.1 ACB12752.1
    mRNA EU515156.1 ACB12753.1
    mRNA EU515157.1 ACB12754.1
    mRNA EU515158.1 ACB12755.1
    mRNA EU515159.1 ACB12756.1
    mRNA EU515160.1 ACB12757.1
    mRNA EU515161.1 ACB12758.1
    mRNA EU515162.1 ACB12759.1
    mRNA EU515163.1 ACB12760.1
    mRNA EU515164.1 ACB12761.1
    mRNA EU515165.1 ACB12762.1
    mRNA EU515166.1 ACB12763.1
    other-genetic BC172229.1 AAI72229.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0FK00 GenPept UniProtKB/TrEMBL:A0FK00
    O75923.1 GenPept UniProtKB/Swiss-Prot:O75923
    Q7Z6P1 GenPept UniProtKB/TrEMBL:Q7Z6P1
    Q8TCI0 GenPept UniProtKB/TrEMBL:Q8TCI0
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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