Homo sapiens Gene: AGA
Summary
InnateDB Gene IDBG-45569.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol AGA
Gene Name aspartylglucosaminidase
Synonyms AGU; ASRG; GA;
Species Homo sapiens
Ensembl Gene ENSG00000038002
Encoded Proteins
aspartylglucosaminidase
aspartylglucosaminidase
aspartylglucosaminidase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Aspartylglucosaminidase is involved in the catabolism of N-linked oligosaccharides of glycoproteins. It cleaves asparagine from N-acetylglucosamines as one of the final steps in the lysosomal breakdown of glycoproteins. The lysosomal storage disease aspartylglycosaminuria is caused by a deficiency in the AGA enzyme. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Jan 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:177430770-177442503
Strand Reverse strand
Band q34.3
Transcripts
ENST00000264595 ENSP00000264595
ENST00000502310 ENSP00000423798
ENST00000506853
ENST00000510635 ENSP00000421471
ENST00000510955
ENST00000511231
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
Biological Process
GO:0006508 proteolysis
GO:0006517 protein deglycosylation
GO:0008152 metabolic process
GO:0051604 protein maturation
Cellular Component
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
Other glycan degradation pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 175
UniGene Hs.207776 Hs.605070
RefSeq NM_000027 NM_001171988 XM_006714123
HUGO HGNC:318
OMIM 613228
CCDS CCDS3829
HPRD 01949
IMGT
EMBL
GenPept
RNA Seq Atlas 175