• Gene id: 175

Gene Summary

• Gene Symbol: AGA   Gene   UCSC   Ensembl
• Aliases: AGU, ASRG, GA
• Gene name: aspartylglucosaminidase
• Alternate names: N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase, N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase, aspartylglucosylamine deaspartylase, glycosylasparaginase,
• Gene location: 4q34.3 (177442502: 177430773)     Exons: 9     NC_000004.12
• Gene summary(Entrez): 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 catabolis
• OMIM: 217070

SNPs

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

Protein Summary

• Protein general information: P20933  
  • Name: N(4) (beta N acetylglucosaminyl) L asparaginase (EC 3.5.1.26) (Aspartylglucosaminidase) (Glycosylasparaginase) (N4 (N acetyl beta glucosaminyl) L asparagine amidase) [Cleaved into: Glycosylasparaginase alpha chain; Glycosylasparaginase beta chain]
  • Length: 346  
  • Mass: 37208
• Sequence:

  MARKSNLPVLLVPFLLCQALVRCSSPLPLVVNTWPFKNATEAAWRALASGGSALDAVESGCAMCEREQCDGSVGF
  GGSPDELGETTLDAMIMDGTTMDVGAVGDLRRIKNAIGVARKVLEHTTHTLLVGESATTFAQSMGFINEDLSTTA
  SQALHSDWLARNCQPNYWRNVIPDPSKYCGPYKPPGILKQDIPIHKETEDDRGHDTIGMVVIHKTGHIAAGTSTN
  GIKFKIHGRVGDSPIPGAGAYADDTAGAAAATGNGDILMRFLPSYQAVEYMRRGEDPTIACQKVISRIQKHFPEF
  FGAVICANVTGSYGAACNKLSTFTQFSFMVYNSEKNQPTEEKVDCI

• Structural information:
  • Interpro: IPR029055  IPR000246  
  • PDB: 1APY 1APZ
  • PDBsum: 1APY 1APZ
  • STRING: ENSP00000264595
• Other Databases: GeneCards:  AGA  Malacards:  AGA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005764	lysosome	IBA	cellular component
GO:0006517	protein deglycosylation	IBA	biological process
GO:0003948	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0003948	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IEA	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0043621	protein self-association	IEA	molecular function
GO:0003948	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IEA	molecular function
GO:0003948	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0006517	protein deglycosylation	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0003948	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0006517	protein deglycosylation	IMP	biological process
GO:0003948	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04142	Lysosome
hsa00511	Other glycan degradation

Diseases

Associated diseases	References
Glycoproteinoses	KEGG:H00422
Aspartylglucosaminuria	KEGG:H00145
Glycoproteinoses	KEGG:H00422
Aspartylglucosaminuria	KEGG:H00145
Lysosomal storage disease	PMID:1703489
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray