InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ALG13

Summary

InnateDB Protein

IDBP-379370.4

Last Modified

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

Gene Symbol

ALG13

Protein Name

asparagine-linked glycosylation 13 homolog (S. cerevisiae)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000392990

InnateDB Gene

IDBG-82767 (ALG13)

Protein Structure

UniProt Annotation

Function

Isoform 1: Possible multifunctional enzyme with both glycosyltransferase and deubiquitinase activities.Isoform 2: May be involved in protein N-glycosylation, second step of the dolichol-linked oligosaccharide pathway.

Subcellular Localization

Isoform 2: Endoplasmic reticulum {ECO:0000305}. Note=Could be recruited to the cytosolic face of the endoplasmic reticulum membrane through its interaction with ALG14.

Disease Associations

Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:22492991}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.