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AGA aspartylglucosaminidase [ Homo sapiens (human) ]

Gene ID: 175, updated on 22-May-2022

Summary

Official Symbol
AGAprovided by HGNC
Official Full Name
aspartylglucosaminidaseprovided by HGNC
Primary source
HGNC:HGNC:318
See related
Ensembl:ENSG00000038002 MIM:613228; AllianceGenome:HGNC:318
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
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]
Expression
Ubiquitous expression in thyroid (RPKM 10.5), testis (RPKM 10.0) and 25 other tissues See more
Orthologs
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Genomic context

See AGA in Genome Data Viewer
Location:
4q34.3
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (177430774..177442437, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (180769443..180781108, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (178351928..178363591, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377558 Neighboring gene nei like DNA glycosylase 3 Neighboring gene Sharpr-MPRA regulatory region 1660 Neighboring gene Sharpr-MPRA regulatory region 1546 Neighboring gene RNA, 5S ribosomal pseudogene 172 Neighboring gene AGA divergent transcript Neighboring gene U7 small nuclear RNA

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Aspartylglucosaminuria
MedGen: C0268225 OMIM: 208400 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study for biomarker identification of Rapamycin and Everolimus using a lymphoblastoid cell line system.
EBI GWAS Catalog
Genome-wide association study of serum selenium concentrations.
EBI GWAS Catalog
No evidence of gene-calcium interactions from genome-wide analysis of colorectal cancer risk.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in protein deglycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein deglycosylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein deglycosylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in azurophil granule lumen TAS
Traceable Author Statement
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase
Names
N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase
aspartylglucosylamine deaspartylase
glycosylasparaginase
NP_000018.2
NP_001165459.1
XP_047305678.1

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

  1. NG_011845.2 RefSeqGene

    Range
    5067..16730
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000018.2

    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
    ENSP00000264595.2, ENST00000264595.7
    Conserved Domains (1) summary
    cd04513
    Location:29332
    Glycosylasparaginase; Glycosylasparaginase and similar proteins
  2. NM_001171988.2NP_001165459.1  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses two alternate in-frame splice sites in the central coding region compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC027627, AW467768, BC012392, BM968469, DA346002
    UniProtKB/Swiss-Prot
    P20933
    Conserved Domains (1) summary
    cd04513
    Location:29322
    Glycosylasparaginase; Glycosylasparaginase and similar proteins

RNA

  1. NR_033655.2 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    177430774..177442437 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449722.1XP_047305678.1  N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase isoform X1

    Related
    ENST00000506853.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    180769443..180781108 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)