dysferlin; dystrophy-associated fer-1-like protein; fer-1-like protein 1 (DYSF, FER1L1)
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Function
- key Ca+2 sensor involved in the Ca+2-triggered synaptic vesicle - plasma membrane fusion
- role in the sarcolemma repair mechanism of both skeletal muscle & cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (putative)
- interacts with CACNA1S
- interacts with ANXA1 & ANXA2; (Ca+2 & injury state dependent)
- interacts with CACNA1S & PARVB
- interacts with TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation (putative)
- interacts with CAV3 & PARVB
- interacts with AHNAK (Ca+2-independent)
- interacts with AHNAK2 (Ca+2-independent)
Structure
- C2 domain 1 associates with lipid membranes (Ca+2-dependent)
- belongs to the ferlin family
- contains 5 C2 domains
- homologous to C. elegans spermatogenesis factor fer-1; fer-1 spermatozoa show defective mobility
Compartment
- single-pass type 2 membrane protein
- cell membrane, sarcolemma
- cytoplasmic vesicle membrane
- colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules & at the site of contact between two myotubes or a myoblast & a myotube
- wounding of myotubes leads to its focal enrichment to the site of injury & to its relocalization (Ca+2-dependent) toward the plasma membrane
- colocalizes with AHNAK, AHNAK2 & PARVB at the sarcolemma of skeletal muscle
- detected on apical plasma membrane of syncytiotrophoblast
- reaches the plasma membrane through a caveolin-independent mechanism
- retained by caveolin at the plasma membrane
- colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (putative)
- accumulates & colocalizes with fusion vesicles at the sarcolemma disruption sites (putative) Alternative
- splicing: named isoforms=15
Expression
- expressed in skeletal muscle, myoblast, myotube & in the syncytiotrophoblast of the placenta (at protein level)
- highly expressed in skeletal muscle
- also found in heart, brain, spleen, intestine, placenta & at lower levels in liver, lung, kidney & pancreas
- expression in limb tissue from 5-6 weeks embryos; persists throughout development
Pathology
- defects in DYSF are the cause of
Laboratory
More general terms
References
- ↑ Liu J et al Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nature Genetics 20:31-6, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9731526
- ↑ Bashir R et al A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics 20:37-42, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9731527
- ↑ UniProt http://www.uniprot.org/uniprot/O75923.html
- ↑ Leiden muscular Dystrophy pages: Dysferlin http://www.dmd.nl/dysf_home.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/DYSF
- ↑ Wikipedia: Dysferlin http://en.wikipedia.org/wiki/Dysferlin
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=8291
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8291
- OMIM: https://mirror.omim.org/entry/253601
- OMIM: https://mirror.omim.org/entry/254130
- OMIM: https://mirror.omim.org/entry/603009
- OMIM: https://mirror.omim.org/entry/606768
- UniProt: http://www.uniprot.org/uniprot/O75923.html