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DYSF dysferlin [ Homo sapiens (human) ]

Gene ID: 8291, updated on 19-Jul-2014
Official Symbol
DYSFprovided by HGNC
Official Full Name
dysferlinprovided 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
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]
See DYSF in Epigenomics, MapViewer
Location:
2p13.3
Exon count :
58
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 2 NC_000002.12 (71453294..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 poly(A) binding protein interacting protein 2B Neighboring gene zinc finger protein 638 Neighboring gene ZNF638 intronic transcript 1 (non-protein coding) Neighboring gene ribosomal protein S20 pseudogene 10 Neighboring gene cytochrome P450, family 26, subfamily B, polypeptide 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
 
calcium-dependent phospholipid binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular 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
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
sarcolemma IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
dysferlin
Names
dysferlin
fer-1-like protein 1
fer-1-like family member 1
dystrophy-associated fer-1-like 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 

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

mRNA and Protein(s)

  1. NM_001130455.1NP_001123927.1  dysferlin isoform 2

    See proteins identical to 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, OTTHUMP00000202234, ENST00000394120, OTTHUMT00000327473
    Conserved Domains (10) summary
    pfam08150
    Location:787862
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:304375
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:695760
    Blast Score: 208
    FerA; FerA (NUC095) domain
    cd04011
    Location:218327
    Blast Score: 486
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11531281
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381555
    Blast Score: 650
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15801703
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18141945
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9471003
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  2. NM_001130976.1NP_001124448.1  dysferlin isoform 9

    See proteins identical to 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 (10) summary
    pfam08150
    Location:772847
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303374
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:680745
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:217326
    Blast Score: 486
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11381266
    Blast Score: 567
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380540
    Blast Score: 664
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15651688
    Blast Score: 587
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:17991930
    Blast Score: 637
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:932988
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  3. NM_001130977.1NP_001124449.1  dysferlin isoform 10

    See proteins identical to 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 (10) summary
    pfam08150
    Location:772847
    Blast Score: 400
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303374
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:680745
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:217326
    Blast Score: 486
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11381266
    Blast Score: 567
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380540
    Blast Score: 664
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15861709
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18201951
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:932988
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  4. NM_001130978.1NP_001124450.1  dysferlin isoform 11

    See proteins identical to 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, OTTHUMP00000225471, ENST00000429174, OTTHUMT00000376569
    Conserved Domains (10) summary
    pfam08150
    Location:786861
    Blast Score: 400
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303374
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:694759
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:217326
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11521280
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380554
    Blast Score: 650
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16001723
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18341965
    Blast Score: 639
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9461002
    Blast Score: 185
    DysFN; Dysferlin domain, N-terminal region
  5. NM_001130979.1NP_001124451.1  dysferlin isoform 12

    See proteins identical to 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, OTTHUMP00000225494, ENST00000413539, OTTHUMT00000376611
    Conserved Domains (10) summary
    pfam08150
    Location:817892
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:334405
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:725790
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:248357
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11831311
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411585
    Blast Score: 650
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16101733
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18441975
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9771033
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  6. NM_001130980.1NP_001124452.1  dysferlin isoform 13

    See proteins identical to 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, OTTHUMP00000202235, ENST00000409762, OTTHUMT00000327474
    Conserved Domains (10) summary
    pfam08150
    Location:803878
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:334405
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:711776
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:248357
    Blast Score: 486
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11691297
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411571
    Blast Score: 664
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15961719
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18301961
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9631019
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  7. NM_001130981.1NP_001124453.1  dysferlin isoform 14

    See proteins identical to 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, OTTHUMP00000202241, ENST00000409582, OTTHUMT00000327480
    Conserved Domains (10) summary
    pfam08150
    Location:803878
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:334405
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:711776
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:248357
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11691297
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411571
    Blast Score: 664
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16171740
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18511982
    Blast Score: 639
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9631019
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  8. NM_001130982.1NP_001124454.1  dysferlin isoform 7

    See proteins identical to 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, OTTHUMP00000202233, ENST00000409651, OTTHUMT00000327472
    Conserved Domains (10) summary
    pfam08150
    Location:818893
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:335406
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:726791
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:249358
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11841312
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412586
    Blast Score: 650
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16111734
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18451976
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9781034
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  9. NM_001130983.1NP_001124455.1  dysferlin isoform 6

    See proteins identical to 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, OTTHUMP00000202237, ENST00000409366, OTTHUMT00000327476
    Conserved Domains (10) summary
    pfam08150
    Location:787862
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:304375
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:695760
    Blast Score: 208
    FerA; FerA (NUC095) domain
    cd04011
    Location:218327
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11531281
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381555
    Blast Score: 651
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16011724
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18351966
    Blast Score: 639
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9471003
    Blast Score: 185
    DysFN; Dysferlin domain, N-terminal region
  10. NM_001130984.1NP_001124456.1  dysferlin isoform 5

    See proteins identical to 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, OTTHUMP00000202236, ENST00000409744, OTTHUMT00000327475
    Conserved Domains (10) summary
    pfam08150
    Location:773848
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:304375
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:681746
    Blast Score: 208
    FerA; FerA (NUC095) domain
    cd04011
    Location:218327
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11391267
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381541
    Blast Score: 664
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15871710
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18211952
    Blast Score: 639
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:933989
    Blast Score: 185
    DysFN; Dysferlin domain, N-terminal region
  11. NM_001130985.1NP_001124457.1  dysferlin isoform 4

    See proteins identical to 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, OTTHUMP00000202240, ENST00000410041, OTTHUMT00000327479
    Conserved Domains (10) summary
    pfam08150
    Location:804879
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:335406
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:712777
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:249358
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11701298
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412572
    Blast Score: 664
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15971720
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18311962
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9641020
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  12. NM_001130986.1NP_001124458.1  dysferlin isoform 3

    See proteins identical to 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 (10) summary
    pfam08150
    Location:773848
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:304375
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:681746
    Blast Score: 208
    FerA; FerA (NUC095) domain
    cd04011
    Location:218327
    Blast Score: 486
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11391267
    Blast Score: 567
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:381541
    Blast Score: 664
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15661689
    Blast Score: 587
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18001931
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:933989
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  13. NM_001130987.1NP_001124459.1  dysferlin isoform 1

    See proteins identical to 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, OTTHUMP00000202238, ENST00000410020, OTTHUMT00000327477
    Conserved Domains (10) summary
    pfam08150
    Location:804879
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:335406
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:712777
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:249358
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11701298
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412572
    Blast Score: 665
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16181741
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18521983
    Blast Score: 639
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9641020
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  14. NM_003494.3NP_003485.1  dysferlin isoform 8

    See proteins identical to 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, OTTHUMP00000160176, ENST00000258104, OTTHUMT00000251970
    Conserved Domains (10) summary
    pfam08150
    Location:786861
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:303374
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:694759
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:217326
    Blast Score: 486
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11521280
    Blast Score: 567
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:380554
    Blast Score: 650
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:15791702
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18131944
    Blast Score: 638
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9461002
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000002.12 

    Range
    71453294..71686763
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264585.2XP_005264642.1  

    Conserved Domains (10) summary
    pfam08150
    Location:817892
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:334405
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:725790
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:248357
    Blast Score: 487
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11831311
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:411585
    Blast Score: 650
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16311754
    Blast Score: 588
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:20133
    Blast Score: 383
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18651996
    Blast Score: 639
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9771033
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region
  2. XM_005264584.2XP_005264641.1  

    Conserved Domains (10) summary
    pfam08150
    Location:818893
    Blast Score: 399
    FerB; FerB (NUC096) domain
    pfam08151
    Location:335406
    Blast Score: 340
    FerI; FerI (NUC094) domain
    pfam08165
    Location:726791
    Blast Score: 209
    FerA; FerA (NUC095) domain
    cd04011
    Location:249358
    Blast Score: 488
    C2B_Ferlin; C2 domain second repeat in Ferlin
    cd04017
    Location:11841312
    Blast Score: 568
    C2D_Ferlin; C2 domain fourth repeat in Ferlin
    cd04018
    Location:412586
    Blast Score: 651
    C2C_Ferlin; C2 domain third repeat in Ferlin
    cd04037
    Location:16321755
    Blast Score: 589
    C2E_Ferlin; C2 domain fifth repeat in Ferlin
    cd08373
    Location:5134
    Blast Score: 430
    C2A_Ferlin; C2 domain first repeat in Ferlin
    cd08374
    Location:18661997
    Blast Score: 639
    C2F_Ferlin; C2 domain sixth repeat in Ferlin
    smart00693
    Location:9781034
    Blast Score: 184
    DysFN; Dysferlin domain, N-terminal region

Alternate HuRef

Genomic

  1. AC_000134.1 

    Range
    71417813..71651420
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 

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

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