Version 5.4
Bos taurus Gene: DYSF
Summary
InnateDB Gene IDBG-631645.2
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DYSF
Gene Name dysferlin
Synonyms FER1L1
Species Bos taurus
Ensembl Gene ENSBTAG00000013290
Encoded Proteins
IDBP-683300
dysferlin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000135636:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:12894979-13123270
Strand Reverse strand
Band
Transcripts
ENSBTAT00000033154 ENSBTAP00000033077
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 43 interaction(s) predicted by orthology.
Predicted by orthology
Total 43 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0005544 calcium-dependent phospholipid binding
Biological Process
GO:0001778 plasma membrane repair
GO:0006906 vesicle fusion
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0030027 lamellipodium
GO:0030315 T-tubule
GO:0031410 cytoplasmic vesicle
GO:0042383 sarcolemma
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000135636
View Gene Order
ENSMUSG00000033788
View Gene Order
Cross-References
SwissProt
TrEMBL F1MB01
UniProt Splice Variant
Entrez Gene 508157
UniGene Bt.8795 Bt.89402
RefSeq NM_001102490 XM_005212489 XM_005212490
HUGO HGNC:3097
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02030385 DAAA02030386 DAAA02030387
GenPept
RNA Seq Atlas 508157

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca