InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SGCE

Summary

InnateDB Protein

IDBP-27553.6

Last Modified

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

Gene Symbol

SGCE

Protein Name

sarcoglycan, epsilon

Synonyms

DYT11; ESG;

Species

Homo sapiens

Ensembl Protein

ENSP00000265735

InnateDB Gene

IDBG-27549 (SGCE)

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 membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Golgi apparatus {ECO:0000250}.

Disease Associations

Dystonia 11 (DYT11) [MIM:159900]: A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. {ECO:0000269PubMed:11528394, ECO:0000269PubMed:12402271, ECO:0000269PubMed:15079037, ECO:0000269PubMed:15258227, ECO:0000269PubMed:16227522, ECO:0000269PubMed:17853490, ECO:0000269PubMed:18175340, ECO:0000269PubMed:18362280, ECO:0000269PubMed:19066193}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	5 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0007160	cell-matrix adhesion
GO:0007517	muscle organ development

Cellular Component

GO:0005794	Golgi apparatus
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016010	dystrophin-associated glycoprotein complex
GO:0016012	sarcoglycan complex
GO:0016020	membrane
GO:0030425	dendrite
GO:0032590	dendrite membrane
GO:0042383	sarcolemma