AGA aspartylglucosaminidase [Homo sapiens (human)] - Gene

Summary

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Official Symbol: AGAprovided by HGNC
Official Full Name: aspartylglucosaminidaseprovided by HGNC
Primary source: HGNC:318
See related: Ensembl:ENSG00000038002; HPRD:01949; MIM:613228; Vega:OTTHUMG00000160723
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GA; AGU; ASRG
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]

Genomic context

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Location :: 4q34.3

Sequence :: Chromosome: 4; NC_000004.11 (178351928..178363657, complement)

See AGA in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

[review] Natural killer (NK) cell tumors, subtypes of myeloid leukemias and T-cell lymphomas respond to ASNase; ovarian carcinomas and other solid tumors have been proposed as additional targets for ASNase, with a potential role for glutaminase. activity.
Title: Expanding targets for a metabolic therapy of cancer: L-asparaginase.
Increased AGA plasma activity, although a consistent finding in congenital disorders of glycosylation patients, is not specific to this group of disorders.
Title: Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
The amino acid substitutions in aspartylglucosaminidase responsible for aspartylglucosaminuria were classified and divided in three groups.
Title: Structural basis of aspartylglucosaminuria.
Molecular mechanism for the autoproteolytic activation of aspartylglucosaminidase.
Title: Autoproteolytic activation of human aspartylglucosaminidase.
A new point mutation, c.44T>G, found in a Finnish compound heterozygote causes a L15R AA substitution in the signal sequence of the AGA enzyme, affecting AGA translocation by altering a critical hydrophobic core structure in the signal sequence.
Title: A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
aspartylglucosaminidase may have a role in development of congenital disorders of glycosylation type I
Title: Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I).

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
P20933	P20933	AGA	HPRD	PubMed
P20933	P02768	ALB	HPRD	PubMed
P20933	P11717	IGF2R	HPRD	PubMed
BioGRID:106683	BioGRID:106683	AGA	BioGRID	PubMed	Co-purification
BioGRID:106683	BioGRID:106715	ALB	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
Lysosome, organism-specific biosystem (from KEGG)
Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
Lysosome, conserved biosystem (from KEGG)
Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
Other glycan degradation, organism-specific biosystem (from KEGG)
Other glycan degradation, organism-specific biosystem
Other glycan degradation
Other glycan degradation, conserved biosystem (from KEGG)
Other glycan degradation, conserved biosystem
Other glycan degradation

General gene information

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Markers

GDB:607621 (e-PCR)
- UniSTS:158242

STS-X55330 (e-PCR)
- UniSTS:28451

GDB:607635 (e-PCR)
- UniSTS:158246

GDB:607636 (e-PCR)
- UniSTS:158247

GDB:607637 (e-PCR)
- UniSTS:158248

GDB:607638 (e-PCR)
- UniSTS:158249

GDB:607643 (e-PCR)
- UniSTS:158251

GDB:607646 (e-PCR)
- UniSTS:158252

GDB:607647 (e-PCR)
- UniSTS:158253

GDB:607648 (e-PCR)
- UniSTS:158254

D4S3226 (e-PCR)
- UniSTS:80194

Genotypes

See AGA SNP Geneview Report
See AGA SNP Genotype Report
See AGA SNP Variation Viewer Report

Homology

Homologs of the AGA gene: The AGA gene is conserved in chimpanzee, Rhesus monkey, dog, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, M.oryzae, N.crassa, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IDA Inferred from Direct Assay more info	PubMed
N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IMP Inferred from Mutant Phenotype more info	PubMed
peptidase activity	IEA Inferred from Electronic Annotation more info
protein self-association	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
protein deglycosylation	IDA Inferred from Direct Assay more info	PubMed
protein deglycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
protein maturation	IEA Inferred from Electronic Annotation more info
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
lysosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase

Names: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase; glycosylasparaginase; aspartylglucosylamine deaspartylase; N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase

NP_000018.2

EC 3.5.1.26

NP_001165459.1

EC 3.5.1.26

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011845.2 RefSeqGene

Range

5001..16730

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000027.3 → NP_000018.2 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 1 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC027627, AW467768, BC012392, BM968469, DA346002

Consensus CDS

CCDS3829.1

UniProtKB/Swiss-Prot

P20933

Related

ENSP00000264595, OTTHUMP00000218812, ENST00000264595, OTTHUMT00000361916

Conserved Domains (1) summary

cd04513
Location:29 – 331
Blast Score: 904

Glycosylasparaginase; Glycosylasparaginase catalyzes the hydrolysis of the glycosylamide bond of asparagine-linked glycoproteins. This enzyme is an amidase located inside lysosomes. Mutation of this gene in humans causes a genetic disorder known as aspartylglycosaminuria (AGU) ...
NM_001171988.1 → NP_001165459.1 N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC027627, AW467768, BC012392, BM968469, DA346002

UniProtKB/Swiss-Prot

P20933

Conserved Domains (1) summary

cd04513
Location:29 – 321
Blast Score: 837

Glycosylasparaginase; Glycosylasparaginase catalyzes the hydrolysis of the glycosylamide bond of asparagine-linked glycoproteins. This enzyme is an amidase located inside lysosomes. Mutation of this gene in humans causes a genetic disorder known as aspartylglycosaminuria (AGU) ...

RNA

NR_033655.1 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA490958, AC027627, AC078881, CX869892, DA346002

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p10 Primary Assembly

Range

178351928..178363657, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

174102201..174113937, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018915.1 Alternate CHM1_1.0

Range

178123745..178135467, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01070426.1 (74822..86558)	None
genomic	AC027627.6 (181307..189665)	None
genomic	AC078881.5	AAY40915.1
genomic	AMYH01014739.1 (202258..213980)	None
genomic	CH471056.2	EAX04712.1
		EAX04713.1
		EAX04714.1
		EAX04715.1
genomic	S83096.1	AAD14424.1
genomic	U21273.1	AAB60655.1
genomic	U21274.1	AAB60655.1
genomic	U21275.1	AAB60655.1
genomic	U21276.1	AAB60655.1
genomic	U21277.1	AAB60655.1
genomic	U21278.1	AAB60655.1
genomic	U21279.1	AAB60655.1
genomic	U21280.1	AAB60655.1
genomic	U21281.1	AAB60655.1
genomic	X61959.1	CAA43958.1
mRNA	AA490958.1	None
mRNA	AK303370.1	BAG64427.1
mRNA	AK312982.1	BAG35819.1
mRNA	AW467768.1	None
mRNA	BC012392.1	AAH12392.1
mRNA	BM968469.1	None
mRNA	CR541715.1	CAG46516.1
mRNA	CX869892.1	None
mRNA	DA346002.1	None
mRNA	DA905583.1	None
mRNA	M60808.1	AAA35901.1
mRNA	M60809.1	AAA35902.1
mRNA	M64073.1	AAA35903.1
mRNA	M64075.1	AAA35904.1
mRNA	M64076.1	AAA35905.1
mRNA	M83247.1	AAA36215.1
mRNA	X55762.1	CAA39288.1
mRNA	X73071.1	CAA51529.1
other-genetic	DQ891353.2	ABM82279.1
other-genetic	DQ894534.2	ABM85460.1