InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SGCA

Summary

InnateDB Protein

IDBP-58168.4

Last Modified

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

Gene Symbol

SGCA

Protein Name

sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

Synonyms

50-DAG; A2; adhalin; ADL; DAG2; DMDA2; LGMD2D; SCARMD1;

Species

Homo sapiens

Ensembl Protein

ENSP00000262018

InnateDB Gene

IDBG-58166 (SGCA)

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 {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.

Disease Associations

Limb-girdle muscular dystrophy 2D (LGMD2D) [MIM:608099]: An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. {ECO:0000269PubMed:7657792, ECO:0000269PubMed:7663524, ECO:0000269PubMed:8069911, ECO:0000269PubMed:8528203, ECO:0000269PubMed:9032047, ECO:0000269PubMed:9192266, ECO:0000269PubMed:9585331}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.

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	4 [view]
Protein-DNA	0
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
GO:0005509	calcium ion binding

Biological Process

GO:0006936	muscle contraction
GO:0007517	muscle organ development

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005911	cell-cell junction
GO:0016010	dystrophin-associated glycoprotein complex
GO:0016011	dystroglycan complex
GO:0016012	sarcoglycan complex
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0042383	sarcolemma
GO:0045121	membrane raft