AGA (aspartylglucosaminidase)

2003-05-01  

Identity

HGNC
LOCATION
4q34.3
LOCUSID
ALIAS
AGU,ASRG,GA
FUSION GENES

Other Information

Locus ID:

NCBI: 175
MIM: 613228
HGNC: 318
Ensembl: ENSG00000038002

Variants:

dbSNP: 175
ClinVar: 175
TCGA: ENSG00000038002
COSMIC: AGA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000038002ENST00000264595P20933
ENSG00000038002ENST00000502310H0Y9C7
ENSG00000038002ENST00000510635H0Y8L9

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Other glycan degradationKEGGko00511
Other glycan degradationKEGGhsa00511
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
218543562012Expanding targets for a metabolic therapy of cancer: L-asparaginase.16
146160882004Autoproteolytic activation of human aspartylglucosaminidase.9
153659922004A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.6
232717572014Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.6
189922242008Structural basis of aspartylglucosaminuria.5
284577192017Crystal structure of a mutant glycosylasparaginase shedding light on aspartylglycosaminuria-causing mechanism as well as on hydrolysis of non-chitobiose substrate.3
164352292005Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).2
274710122016Development of a model system for neuronal dysfunction in Fabry disease.2
191002472009Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.1
299931272018Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder - aspartylglucosaminuria.1

Citation

Dessen P

AGA (aspartylglucosaminidase)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/593/aga-(aspartylglucosaminidase)