Sequence Detail

ID/Version

Q9ESD7 Q80VT0 Q6KAR3 Q9QXC0 (UniProt | EBI)

Last sequence update: 2008-12-16
Last annotation update: 2025-02-05

Sequence description from provider

RecName: Full=Dysferlin;AltName: Full=Dystrophy-associated fer-1-like protein;AltName: Full=Fer-1-like protein 1;

Provider

SWISS-PROT

Sequence

Polypeptide 2090 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Dysf	dysferlin	85	98	3	46

Sequence references in MGI

J:57764 Bittner RE, et al., Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B [letter]. Nat Genet. 1999 Oct;23(2):141-2
J:67994 Vafiadaki E, et al., Cloning of the mouse dysferlin gene and genomic characterization of the SJL-Dysf mutation. Neuroreport. 2001 Mar 5;12(3):625-9
J:83126 Bansal D, et al., Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003 May 8;423(6936):168-72
J:87169 Lennon NJ, et al., Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem. 2003 Dec 12;278(50):50466-73
J:92574 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of FLJ genes: the complete nucleotide sequences of 110 mouse FLJ-homologous cDnas identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2004 Apr 30;11(2):127-35
J:124212 Han R, et al., Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury. J Clin Invest. 2007 Jul;117(7):1805-13
J:150684 Cai C, et al., Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. J Biol Chem. 2009 Jun 5;284(23):15894-902
J:292518 Huttlin EL, et al., A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89