InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AGA

Summary

InnateDB Protein

IDBP-45571.6

Last Modified

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

Gene Symbol

AGA

Protein Name

aspartylglucosaminidase

Synonyms

AGU; ASRG; GA;

Species

Homo sapiens

Ensembl Protein

ENSP00000264595

InnateDB Gene

IDBG-45569 (AGA)

Protein Structure

UniProt Annotation

Function

Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.

Subcellular Localization

Lysosome.

Disease Associations

Aspartylglucosaminuria (AGU) [MIM:208400]: An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities. {ECO:0000269PubMed:11309371, ECO:0000269PubMed:1703489, ECO:0000269PubMed:1904874, ECO:0000269PubMed:2011603, ECO:0000269PubMed:8776587, ECO:0000269PubMed:9137882}. 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 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	4 [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:0003948	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity
GO:0008233	peptidase activity
GO:0016787	hydrolase activity
GO:0043621	protein self-association