InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SGCD

Summary

InnateDB Protein

IDBP-380769.4

Last Modified

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

Gene Symbol

SGCD

Protein Name

sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)

Synonyms

35DAG; CMD1L; DAGD; SG-delta; SGCDP; SGD;

Species

Homo sapiens

Ensembl Protein

ENSP00000403003

InnateDB Gene

IDBG-55191 (SGCD)

Protein Structure

UniProt Annotation

Function

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

Subcellular Localization

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.

Disease Associations

Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287]: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. {ECO:0000269PubMed:9832045}. Note=The disease is caused by mutations affecting the gene represented in this entry.Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269PubMed:10974018}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.

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 7 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	3 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0007517

muscle organ development

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0016010	dystrophin-associated glycoprotein complex
GO:0016012	sarcoglycan complex
GO:0016021	integral component of membrane
GO:0042383	sarcolemma