InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DYSF

Summary

InnateDB Protein

IDBP-242224.7

Last Modified

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

Gene Symbol

DYSF

Protein Name

dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

Synonyms

FER1L1; LGMD2B; MMD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000377678

InnateDB Gene

IDBG-56039 (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 (By similarity). {ECO:0000250}.

Subcellular Localization

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell membrane. 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. 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. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle. Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes with fusion vesicles at the sarcolemma disruption sites (By similarity). {ECO:0000250}.

Disease Associations

Limb-girdle muscular dystrophy 2B (LGMD2B) [MIM:253601]: An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. {ECO:0000269PubMed:10196377, ECO:0000269PubMed:11134403, ECO:0000269PubMed:14678801, ECO:0000269PubMed:15469449, ECO:0000269PubMed:16010686, ECO:0000269PubMed:16100712, ECO:0000269PubMed:16705711, ECO:0000269PubMed:16996541, ECO:0000269PubMed:17287450, ECO:0000269PubMed:18306167, ECO:0000269PubMed:18853459, ECO:0000269PubMed:9731526}. Note=The disease is caused by mutations affecting the gene represented in this entry.Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]: A late- onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. {ECO:0000269PubMed:10196377, ECO:0000269PubMed:11134403, ECO:0000269PubMed:11468312, ECO:0000269PubMed:12796534, ECO:0000269PubMed:15116377, ECO:0000269PubMed:15469449, ECO:0000269PubMed:15477515, ECO:0000269PubMed:15515206, ECO:0000269PubMed:16010686, ECO:0000269PubMed:16100712, ECO:0000269PubMed:17287450, ECO:0000269PubMed:18306167, ECO:0000269PubMed:18853459, ECO:0000269PubMed:9731526, ECO:0000269Ref.25}. Note=The disease is caused by mutations affecting the gene represented in this entry.Distal myopathy with anterior tibial onset (DMAT) [MIM:606768]: Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver, lung, kidney and pancreas. {ECO:0000269PubMed:10196375, ECO:0000269PubMed:11532985, ECO:0000269PubMed:11959863, ECO:0000269PubMed:15318348, ECO:0000269PubMed:16896923, ECO:0000269PubMed:17185750, ECO:0000269PubMed:17363620, ECO:0000269PubMed:17554076, ECO:0000269PubMed:24239457}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [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

Cellular Component

GO:0005886	plasma membrane
GO:0016021	integral component of membrane
GO:0030315	T-tubule
GO:0030659	cytoplasmic vesicle membrane
GO:0042383	sarcolemma
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000008 C2 domain
IPR006614 Peroxin/Ferlin domain
IPR012560 Ferlin A-domain
IPR012561 Ferlin B-domain
IPR012968 FerIin domain
IPR016196 Major facilitator superfamily domain, general substrate transporter

PFAM

PF00168
PF08165
PF08150
PF08151

PRINTS

PR00360

PIRSF

SMART

SM00239
SM00693
SM00694

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt