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    DYSF dysferlin [ Homo sapiens (human) ]

    Gene ID: 8291, updated on 8-Oct-2017
    Official Symbol
    DYSFprovided by HGNC
    Official Full Name
    dysferlinprovided by HGNC
    Primary source
    HGNC:HGNC:3097
    See related
    Ensembl:ENSG00000135636 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
    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]
    Orthologs
    Location:
    2p13.2
    Exon count:
    58
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (71453155..71686763)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (71680347..71913895)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374797 Neighboring gene zinc finger protein 638 Neighboring gene RNA, U6 small nuclear 105, pseudogene Neighboring gene uncharacterized LOC107985896 Neighboring gene ribosomal protein S20 pseudogene 10

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of dysferlin, limb girdle muscular dystrophy 2B (DYSF) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of dysferlin (DYSF) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • Smooth Muscle Contraction, organism-specific biosystem (from REACTOME)
      Smooth Muscle Contraction, organism-specific biosystemLayers of smooth muscle cells can be found in the walls of numerous organs and tissues within the body. Smooth muscle tissue lacks the striated banding pattern characteristic of skeletal and cardiac ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ00175, FLJ90168

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium-dependent phospholipid binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    muscle contraction TAS
    Traceable Author Statement
    more info
     
    plasma membrane repair IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle fusion IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasmic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule organizing center IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    dysferlin
    Names
    dystrophy-associated fer-1-like 1
    fer-1-like family member 1
    fer-1-like protein 1
    limb girdle muscular dystrophy 2B (autosomal recessive)

    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_001130455.1NP_001123927.1  dysferlin isoform 2

      See identical proteins and their annotated locations for NP_001123927.1

      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
      ENSP00000377678.2, OTTHUMP00000202234, ENST00000394120.6, OTTHUMT00000327473
      Conserved Domains (11) summary
      cd04011
      Location:218327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11531281
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15801703
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18141945
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9471003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:788860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19582044
      Ferlin_C; Ferlin C-terminus
    2. NM_001130976.1NP_001124448.1  dysferlin isoform 9

      See identical proteins and their annotated locations for NP_001124448.1

      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 (11) summary
      cd04011
      Location:217326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11381266
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380540
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15651688
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:17991930
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:932988
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:773845
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:684741
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19432029
      Ferlin_C; Ferlin C-terminus
    3. NM_001130977.1NP_001124449.1  dysferlin isoform 10

      See identical proteins and their annotated locations for NP_001124449.1

      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 (11) summary
      cd04011
      Location:217326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11381266
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380540
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15861709
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18201951
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:932988
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:773845
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:684741
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19642050
      Ferlin_C; Ferlin C-terminus
    4. NM_001130978.1NP_001124450.1  dysferlin isoform 11

      See identical proteins and their annotated locations for NP_001124450.1

      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
      ENSP00000398305.2, OTTHUMP00000225471, ENST00000429174.6, OTTHUMT00000376569
      Conserved Domains (11) summary
      cd04011
      Location:217326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11521280
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380554
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16001723
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18341965
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9461002
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:787859
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:698755
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19782064
      Ferlin_C; Ferlin C-terminus
    5. NM_001130979.1NP_001124451.1  dysferlin isoform 12

      See identical proteins and their annotated locations for NP_001124451.1

      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
      ENSP00000407046.2, OTTHUMP00000225494, ENST00000413539.6, OTTHUMT00000376611
      Conserved Domains (11) summary
      cd04011
      Location:248357
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11831311
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411585
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16101733
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18441975
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9771033
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:818890
      FerB; FerB (NUC096) domain
      pfam08151
      Location:355405
      FerI; FerI (NUC094) domain
      pfam08165
      Location:729786
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19882074
      Ferlin_C; Ferlin C-terminus
    6. NM_001130980.1NP_001124452.1  dysferlin isoform 13

      See identical proteins and their annotated locations for NP_001124452.1

      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
      ENSP00000387137.1, OTTHUMP00000202235, ENST00000409762.5, OTTHUMT00000327474
      Conserved Domains (11) summary
      cd04011
      Location:248357
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11691297
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411571
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15961719
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18301961
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9631019
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:804876
      FerB; FerB (NUC096) domain
      pfam08151
      Location:355405
      FerI; FerI (NUC094) domain
      pfam08165
      Location:715772
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19742060
      Ferlin_C; Ferlin C-terminus
    7. NM_001130981.1NP_001124453.1  dysferlin isoform 14

      See identical proteins and their annotated locations for NP_001124453.1

      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
      ENSP00000386547.3, OTTHUMP00000202241, ENST00000409582.7, OTTHUMT00000327480
      Conserved Domains (11) summary
      cd04011
      Location:248357
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11691297
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411571
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16171740
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18511982
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9631019
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:804876
      FerB; FerB (NUC096) domain
      pfam08151
      Location:355405
      FerI; FerI (NUC094) domain
      pfam08165
      Location:715772
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19952081
      Ferlin_C; Ferlin C-terminus
    8. NM_001130982.1NP_001124454.1  dysferlin isoform 7

      See identical proteins and their annotated locations for NP_001124454.1

      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
      ENSP00000386683.1, OTTHUMP00000202233, ENST00000409651.5, OTTHUMT00000327472
      Conserved Domains (11) summary
      cd04011
      Location:249358
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11841312
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412586
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16111734
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18451976
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9781034
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:819891
      FerB; FerB (NUC096) domain
      pfam08151
      Location:356406
      FerI; FerI (NUC094) domain
      pfam08165
      Location:730787
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19892075
      Ferlin_C; Ferlin C-terminus
    9. NM_001130983.1NP_001124455.1  dysferlin isoform 6

      See identical proteins and their annotated locations for NP_001124455.1

      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
      ENSP00000386512.1, OTTHUMP00000202237, ENST00000409366.5, OTTHUMT00000327476
      Conserved Domains (11) summary
      cd04011
      Location:218327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11531281
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381555
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16011724
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18351966
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9471003
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:788860
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:699756
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19792065
      Ferlin_C; Ferlin C-terminus
    10. NM_001130984.1NP_001124456.1  dysferlin isoform 5

      See identical proteins and their annotated locations for NP_001124456.1

      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
      ENSP00000386285.1, OTTHUMP00000202236, ENST00000409744.5, OTTHUMT00000327475
      Conserved Domains (11) summary
      cd04011
      Location:218327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11391267
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381541
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15871710
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18211952
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:933989
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:774846
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:685742
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19652051
      Ferlin_C; Ferlin C-terminus
    11. NM_001130985.1NP_001124457.1  dysferlin isoform 4

      See identical proteins and their annotated locations for NP_001124457.1

      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
      ENSP00000386617.1, OTTHUMP00000202240, ENST00000410041.1, OTTHUMT00000327479
      Conserved Domains (11) summary
      cd04011
      Location:249358
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11701298
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412572
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15971720
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18311962
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9641020
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:805877
      FerB; FerB (NUC096) domain
      pfam08151
      Location:356406
      FerI; FerI (NUC094) domain
      pfam08165
      Location:716773
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19752061
      Ferlin_C; Ferlin C-terminus
    12. NM_001130986.1NP_001124458.1  dysferlin isoform 3

      See identical proteins and their annotated locations for NP_001124458.1

      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 (11) summary
      cd04011
      Location:218327
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11391267
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:381541
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15661689
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18001931
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:933989
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:774846
      FerB; FerB (NUC096) domain
      pfam08151
      Location:325375
      FerI; FerI (NUC094) domain
      pfam08165
      Location:685742
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19442030
      Ferlin_C; Ferlin C-terminus
    13. NM_001130987.1NP_001124459.1  dysferlin isoform 1

      See identical proteins and their annotated locations for NP_001124459.1

      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
      ENSP00000386881.3, OTTHUMP00000202238, ENST00000410020.7, OTTHUMT00000327477
      Conserved Domains (11) summary
      cd04011
      Location:249358
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11701298
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412572
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16181741
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18521983
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9641020
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:805877
      FerB; FerB (NUC096) domain
      pfam08151
      Location:356406
      FerI; FerI (NUC094) domain
      pfam08165
      Location:716773
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19962082
      Ferlin_C; Ferlin C-terminus
    14. NM_003494.3NP_003485.1  dysferlin isoform 8

      See identical proteins and their annotated locations for NP_003485.1

      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
      ENSP00000258104.3, OTTHUMP00000160176, ENST00000258104.7, OTTHUMT00000251970
      Conserved Domains (11) summary
      cd04011
      Location:217326
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11521280
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:380554
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:15791702
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18131944
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9461002
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:787859
      FerB; FerB (NUC096) domain
      pfam08151
      Location:324374
      FerI; FerI (NUC094) domain
      pfam08165
      Location:698755
      FerA; FerA (NUC095) domain
      pfam16165
      Location:19572043
      Ferlin_C; Ferlin C-terminus

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      71453155..71686763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264585.4XP_005264642.1  dysferlin isoform X2

      Conserved Domains (11) summary
      cd04011
      Location:248357
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11831311
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:411585
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16311754
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:20133
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18651996
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9771033
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:818890
      FerB; FerB (NUC096) domain
      pfam08151
      Location:355405
      FerI; FerI (NUC094) domain
      pfam08165
      Location:729786
      FerA; FerA (NUC095) domain
      pfam16165
      Location:20092095
      Ferlin_C; Ferlin C-terminus
    2. XM_005264584.4XP_005264641.1  dysferlin isoform X1

      Conserved Domains (11) summary
      cd04011
      Location:249358
      C2B_Ferlin; C2 domain second repeat in Ferlin
      cd04017
      Location:11841312
      C2D_Ferlin; C2 domain fourth repeat in Ferlin
      cd04018
      Location:412586
      C2C_Ferlin; C2 domain third repeat in Ferlin
      cd04037
      Location:16321755
      C2E_Ferlin; C2 domain fifth repeat in Ferlin
      cd08373
      Location:5134
      C2A_Ferlin; C2 domain first repeat in Ferlin
      cd08374
      Location:18661997
      C2F_Ferlin; C2 domain sixth repeat in Ferlin
      smart00693
      Location:9781034
      DysFN; Dysferlin domain, N-terminal region
      pfam08150
      Location:819891
      FerB; FerB (NUC096) domain
      pfam08151
      Location:356406
      FerI; FerI (NUC094) domain
      pfam08165
      Location:730787
      FerA; FerA (NUC095) domain
      pfam16165
      Location:20102096
      Ferlin_C; Ferlin C-terminus

    RNA

    1. XR_001738969.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      71610103..71843209
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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