AGA - aspartylglucosaminidase Gene

Also Known as GA; AGU; ASRG

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 175

About AGA

Cytogenetic location: 4q34.3 Genomic coordinates (GRCh38): 4:177,430,774-177,442,437 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 10.5), testis (RPKM 10.0) and 25 other tissues.

Summary

This gene encodes a member of the N-terminal nucleophile (Ntn) hydrolase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta chains that comprise the mature enzyme. This enzyme 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. Mutations in this gene are associated with the lysosomal storage disease aspartylglycosaminuria that results in progressive neurodegeneration. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is subject to proteolytic processing. [provided by RefSeq, Nov 2015]

AGA Products (2)

mRNA	Protein	Name
NM_000027.4	NP_000018.2	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein
NM_001171988.2	NP_001165459.1	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IDA IDA: Inferred from direct assay	1281977	GOA
enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IMP IMP: Inferred from mutant phenotype	1904874	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein deglycosylation	IDA IDA: Inferred from direct assay	1281977	GOA
involved in protein deglycosylation	IMP IMP: Inferred from mutant phenotype	1904874	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	8776587	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	25645918	GOA
located in lysosome	IDA IDA: Inferred from direct assay	8776587	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AGA Protein Structure

Asparaginase_2

0
100
200
300
346 a.a.

Protein Preferred Names	Protein Names
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase

AGA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AGA	P20933	KIF1B	Homo sapiens	O60333-2	Validated Y2H	32814053
Intra	AGA	P20933	KIF1B	Homo sapiens	O60333-2	Y2H Pooling	32814053
Intra	AGA	P20933	KIF1B	Homo sapiens	O60333-2	Y2H Array	32814053
Intra	AGA	P20933	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Prey Pooling	32296183
Intra	AGA	P20933	KRTAP1-3	Homo sapiens	Q8IUG1	Y2H Array	32296183
Intra	AGA	P20933	NEFL	Homo sapiens	P07196	Validated Y2H	32814053
Intra	AGA	P20933	NEFL	Homo sapiens	P07196	Y2H Pooling	32814053
Intra	AGA	P20933	NEFL	Homo sapiens	P07196	Y2H Array	32814053
Intra	AGA	P20933	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	AGA	P20933	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	AGA	P20933	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant AGA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76737	AGA/Aspartylglucosaminidase Protein, Human (HEK293, His)	CAA39029.1 (S24-I346)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Aspartylglucosaminuria	Aspartylglycosaminuria Glycosylasparaginase Deficiency Aspartylglucosaminidase Deficiency Aga Deficiency AGU Aspartylglucosamidase Deficiency Glycoasparaginase Aspartylglucosamidase Deficiency Hyperammonemia, Type Iii
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Fabry Disease	Alpha-Galactosidase A Deficiency Anderson-Fabry Disease Angiokeratoma Corporis Diffusum Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac Variant Fabry'S Disease Hereditary Dystopic Lipidosis Gla Deficiency FD Alpha Galactosidase Deficiency Deficiency Of Melibiase Angiokeratoma, Diffuse Angiokeratoma Diffuse Diffuse Angiokeratoma
Tinea Favosa	Favus

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-132609	Patisiran sodium		99.09%	Unkown

Clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Phase
HY-108753	Eteplirsen		98.50%	Phase 3
HY-143230	Custirsen	Inducer	96.12%	Phase 3
HY-132596	Tivanisiran	Inhibitor	97.48%	Phase 3
HY-150724	ODN 1018	Agonist	99.28%	Phase 2

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1851A	AGA-(C8R) HNG17, humanin derivative TFA		99.22%	Unkown
HY-118528A	TP0427736 hydrochloride	Inhibitor	99.91%	Unkown
HY-145726	ISIS 104838	Inhibitor	91.02%	Unkown
HY-147412	Ultevursen	Modulator	94.24%	Unkown
HY-161618	MJ04	Inhibitor	98.08%	Unkown
HY-170448	PROTAC AR Degrader-9	Degrader	/	Unkown
HY-170450	AR ligand-38	Ligand	/	Unkown
HY-P1851	AGA-(C8R) HNG17, humanin derivative		/	Unkown
HY-RS00436	AGA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-175719	SRD5A1-IN-2	Inhibitor	/	Unkown
HY-RS17521	Aga Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23977	Aga Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AGA	MGD	MGI:104873
Macaca mulatta	AGA	VGNC	VGNC:69742
Bos taurus	AGA	VGNC	VGNC:25719
Felis catus	AGA	VGNC	VGNC:59673
Canis familiaris	AGA	VGNC	VGNC:37694
Rattus norvegicus	AGA	RGD	RGD:1309646
Others	AGA	NCBI