InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Dysf

Summary

InnateDB Protein

IDBP-253059.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Dysf

Protein Name

dysferlin

Synonyms

2310004N10Rik; AI604795; D6Pas3;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000109449

InnateDB Gene

IDBG-162220 (Dysf)

Protein Structure

UniProt Annotation

Function

Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. {ECO:0000269PubMed:12736685, ECO:0000269PubMed:14506282, ECO:0000269PubMed:17607357}.

Subcellular Localization

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Cell membrane {ECO:0000250}. Note=Colocalizes, during muscle differentiation, with BIN1 in the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites. Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)- dependent manner toward the plasma membrane (By similarity). Colocalizes with ANXA1 and ANXA2 at the sarcolemma in skeletal muscle. Colocalizes with PARVB at the sarcolemma of skeletal muscle (By similarity). Retained by caveolin at the plasmma membrane. Reaches the plasmma membrane through a caveolin- independent mechanism. Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules. Detected on the apical plasma membrane of the syncytiotrophoblast (By similarity). {ECO:0000250}.

Disease Associations

Note=Defects in Dysf are the cause of a slowly progressive muscular dystrophy observed in SJL mice. It affects primarily the proximal muscles and it is inherited as autosomal recessive trait.

Tissue Specificity

Expressed in skeletal and cardiac muscles (at protein level). Expressed in skeletal muscle and heart. Also found in brain, liver and kidney. {ECO:0000269PubMed:11234777, ECO:0000269PubMed:12736685}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
They are also associated with 44 interaction(s) predicted by orthology.

Experimentally validated
Total	11 [view]
Protein-Protein	11 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	44 [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:0030659	cytoplasmic vesicle membrane
GO:0031410	cytoplasmic vesicle
GO:0042383	sarcolemma