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Protein

N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase

Gene

AGA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins.3 Publications

Catalytic activityi

N4-(beta-N-acetyl-D-glucosaminyl)-L-asparagine + H2O = N-acetyl-beta-D-glucosaminylamine + L-aspartate.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei206Nucleophile1 Publication1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Protease

Enzyme and pathway databases

BioCyciMetaCyc:HS00528-MONOMER
BRENDAi3.5.1.26 2681
ReactomeiR-HSA-6798695 Neutrophil degranulation
SABIO-RKiP20933

Protein family/group databases

MEROPSiT02.001

Names & Taxonomyi

Protein namesi
Recommended name:
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase (EC:3.5.1.263 Publications)
Alternative name(s):
Aspartylglucosaminidase
Glycosylasparaginase
N4-(N-acetyl-beta-glucosaminyl)-L-asparagine amidase
Cleaved into the following 2 chains:
Gene namesi
Name:AGA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000038002.8
HGNCiHGNC:318 AGA
MIMi613228 gene
neXtProtiNX_P20933

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome

Pathology & Biotechi

Involvement in diseasei

Aspartylglucosaminuria (AGU)6 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe mental retardation manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.
See also OMIM:208400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01542712V → L in AGU; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74626221EnsemblClinVar.1
Natural variantiVAR_00506960G → D in AGU. Corresponds to variant dbSNP:rs121964907EnsemblClinVar.1
Natural variantiVAR_00507072S → P in AGU; specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs121964909EnsemblClinVar.1
Natural variantiVAR_015428100G → E in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833421EnsemblClinVar.1
Natural variantiVAR_005071101A → V in AGU. Corresponds to variant dbSNP:rs121964908EnsemblClinVar.1
Natural variantiVAR_015429135F → S in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833427EnsemblClinVar.1
Natural variantiVAR_005072161R → Q in AGU. 3 PublicationsCorresponds to variant dbSNP:rs192195150Ensembl.1
Natural variantiVAR_005073163C → S in AGU; most frequent mutation; abolishes autocatalytic cleavage and enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs121964904EnsemblClinVar.1
Natural variantiVAR_015430252G → E in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833433EnsemblClinVar.1
Natural variantiVAR_015431252G → R in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833432EnsemblClinVar.1
Natural variantiVAR_015432257T → I in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833434EnsemblClinVar.1
Natural variantiVAR_005074302G → R in AGU. Corresponds to variant dbSNP:rs121964905EnsemblClinVar.1
Natural variantiVAR_005075306C → R in AGU. Corresponds to variant dbSNP:rs121964906EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi175
MalaCardsiAGA
MIMi208400 phenotype
OpenTargetsiENSG00000038002
Orphaneti93 Aspartylglucosaminuria
PharmGKBiPA24615

Polymorphism and mutation databases

BioMutaiAGA
DMDMi288558804

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Combined sources1 PublicationAdd BLAST23
ChainiPRO_000000233324 – 205Glycosylasparaginase alpha chainAdd BLAST182
ChainiPRO_0000002334206 – 346Glycosylasparaginase beta chainAdd BLAST141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei24Blocked amino end (Ser)1
Glycosylationi38N-linked (GlcNAc...) asparagineCombined sources3 Publications1
Disulfide bondi64 ↔ 69Combined sources1 Publication
Disulfide bondi163 ↔ 179Combined sources1 Publication
Disulfide bondi286 ↔ 306Combined sources1 Publication
Glycosylationi308N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Disulfide bondi317 ↔ 345Combined sources1 Publication

Post-translational modificationi

Cleaved into an alpha and beta chain by autocatalysis; this activates the enzyme. The N-terminal residue of the beta subunit is responsible for the nucleophile hydrolase activity.3 Publications
N-glycosylated.1 Publication

Keywords - PTMi

Autocatalytic cleavage, Disulfide bond, Glycoprotein

Proteomic databases

EPDiP20933
MaxQBiP20933
PaxDbiP20933
PeptideAtlasiP20933
PRIDEiP20933
ProteomicsDBi53827

PTM databases

GlyConnecti1530
iPTMnetiP20933
PhosphoSitePlusiP20933

Miscellaneous databases

PMAP-CutDBiP20933

Expressioni

Gene expression databases

BgeeiENSG00000038002 Expressed in 223 organ(s), highest expression level in testis
CleanExiHS_AGA
ExpressionAtlasiP20933 baseline and differential
GenevisibleiP20933 HS

Organism-specific databases

HPAiHPA031415
HPA031417

Interactioni

Subunit structurei

Heterotetramer of two alpha and two beta chains arranged as a dimer of alpha/beta heterodimers.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106683, 8 interactors
IntActiP20933, 2 interactors
STRINGi9606.ENSP00000264595

Chemistry databases

BindingDBiP20933

Structurei

Secondary structure

1346
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP20933
SMRiP20933
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP20933

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni234 – 237Substrate binding1 Publication4
Regioni257 – 260Substrate binding1 Publication4

Sequence similaritiesi

Belongs to the Ntn-hydrolase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG1593 Eukaryota
COG1446 LUCA
GeneTreeiENSGT00530000063034
HOVERGENiHBG004289
InParanoidiP20933
KOiK01444
OMAiNIENHDT
OrthoDBiEOG091G0L36
PhylomeDBiP20933
TreeFamiTF300756

Family and domain databases

InterProiView protein in InterPro
IPR029055 Ntn_hydrolases_N
IPR000246 Peptidase_T2
PANTHERiPTHR10188 PTHR10188, 1 hit
PfamiView protein in Pfam
PF01112 Asparaginase_2, 1 hit
SUPFAMiSSF56235 SSF56235, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P20933-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MARKSNLPVL LVPFLLCQAL VRCSSPLPLV VNTWPFKNAT EAAWRALASG
60 70 80 90 100
GSALDAVESG CAMCEREQCD GSVGFGGSPD ELGETTLDAM IMDGTTMDVG
110 120 130 140 150
AVGDLRRIKN AIGVARKVLE HTTHTLLVGE SATTFAQSMG FINEDLSTTA
160 170 180 190 200
SQALHSDWLA RNCQPNYWRN VIPDPSKYCG PYKPPGILKQ DIPIHKETED
210 220 230 240 250
DRGHDTIGMV VIHKTGHIAA GTSTNGIKFK IHGRVGDSPI PGAGAYADDT
260 270 280 290 300
AGAAAATGNG DILMRFLPSY QAVEYMRRGE DPTIACQKVI SRIQKHFPEF
310 320 330 340
FGAVICANVT GSYGAACNKL STFTQFSFMV YNSEKNQPTE EKVDCI
Length:346
Mass (Da):37,208
Last modified:February 9, 2010 - v2
Checksum:i766F1690B5B62FFA
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y8L9H0Y8L9_HUMAN
N(4)-(beta-N-acetylglucosaminyl)-L-...
AGA
138Annotation score:
H0Y9C7H0Y9C7_HUMAN
N(4)-(beta-N-acetylglucosaminyl)-L-...
AGA
154Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21V → A in AAB60655 (PubMed:1840528).Curated1
Sequence conflicti21V → A in CAA43958 (PubMed:1840528).Curated1
Sequence conflicti25S → C AA sequence (PubMed:2011603).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01542712V → L in AGU; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs74626221EnsemblClinVar.1
Natural variantiVAR_00506960G → D in AGU. Corresponds to variant dbSNP:rs121964907EnsemblClinVar.1
Natural variantiVAR_00507072S → P in AGU; specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs121964909EnsemblClinVar.1
Natural variantiVAR_015428100G → E in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833421EnsemblClinVar.1
Natural variantiVAR_005071101A → V in AGU. Corresponds to variant dbSNP:rs121964908EnsemblClinVar.1
Natural variantiVAR_015429135F → S in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833427EnsemblClinVar.1
Natural variantiVAR_033533149T → S8 PublicationsCorresponds to variant dbSNP:rs2228119EnsemblClinVar.1
Natural variantiVAR_005072161R → Q in AGU. 3 PublicationsCorresponds to variant dbSNP:rs192195150Ensembl.1
Natural variantiVAR_005073163C → S in AGU; most frequent mutation; abolishes autocatalytic cleavage and enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs121964904EnsemblClinVar.1
Natural variantiVAR_015430252G → E in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833433EnsemblClinVar.1
Natural variantiVAR_015431252G → R in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833432EnsemblClinVar.1
Natural variantiVAR_015432257T → I in AGU. 1 PublicationCorresponds to variant dbSNP:rs386833434EnsemblClinVar.1
Natural variantiVAR_005074302G → R in AGU. Corresponds to variant dbSNP:rs121964905EnsemblClinVar.1
Natural variantiVAR_005075306C → R in AGU. Corresponds to variant dbSNP:rs121964906EnsemblClinVar.1
Natural variantiVAR_061026322T → I. Corresponds to variant dbSNP:rs56849061EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X55762 mRNA Translation: CAA39288.1
X55330 mRNA Translation: CAA39029.1
U21281
, U21273, U21274, U21275, U21277, U21278, U21279, U21280 Genomic DNA Translation: AAB60655.1
X61959 Genomic DNA Translation: CAA43958.1
M64073 mRNA Translation: AAA35903.1
M64075 mRNA Translation: AAA35904.1 Sequence problems.
M64076 mRNA Translation: AAA35905.1 Sequence problems.
M60808 mRNA Translation: AAA35901.1
M60809 mRNA Translation: AAA35902.1
AK312982 mRNA Translation: BAG35819.1
CR541715 mRNA Translation: CAG46516.1
AC078881 Genomic DNA Translation: AAY40915.1
AC027627 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX04714.1
CH471056 Genomic DNA Translation: EAX04715.1
BC012392 mRNA Translation: AAH12392.1
CCDSiCCDS3829.1
PIRiS11343 MUHUGD
RefSeqiNP_000018.2, NM_000027.3
NP_001165459.1, NM_001171988.1
UniGeneiHs.207776

Genome annotation databases

EnsembliENST00000264595; ENSP00000264595; ENSG00000038002
GeneIDi175
KEGGihsa:175
UCSCiuc003iuu.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X55762 mRNA Translation: CAA39288.1
X55330 mRNA Translation: CAA39029.1
U21281
, U21273, U21274, U21275, U21277, U21278, U21279, U21280 Genomic DNA Translation: AAB60655.1
X61959 Genomic DNA Translation: CAA43958.1
M64073 mRNA Translation: AAA35903.1
M64075 mRNA Translation: AAA35904.1 Sequence problems.
M64076 mRNA Translation: AAA35905.1 Sequence problems.
M60808 mRNA Translation: AAA35901.1
M60809 mRNA Translation: AAA35902.1
AK312982 mRNA Translation: BAG35819.1
CR541715 mRNA Translation: CAG46516.1
AC078881 Genomic DNA Translation: AAY40915.1
AC027627 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX04714.1
CH471056 Genomic DNA Translation: EAX04715.1
BC012392 mRNA Translation: AAH12392.1
CCDSiCCDS3829.1
PIRiS11343 MUHUGD
RefSeqiNP_000018.2, NM_000027.3
NP_001165459.1, NM_001171988.1
UniGeneiHs.207776

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1APYX-ray2.00A/C24-185[»]
B/D206-346[»]
1APZX-ray2.30A/C24-185[»]
B/D206-346[»]
ProteinModelPortaliP20933
SMRiP20933
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106683, 8 interactors
IntActiP20933, 2 interactors
STRINGi9606.ENSP00000264595

Chemistry databases

BindingDBiP20933

Protein family/group databases

MEROPSiT02.001

PTM databases

GlyConnecti1530
iPTMnetiP20933
PhosphoSitePlusiP20933

Polymorphism and mutation databases

BioMutaiAGA
DMDMi288558804

Proteomic databases

EPDiP20933
MaxQBiP20933
PaxDbiP20933
PeptideAtlasiP20933
PRIDEiP20933
ProteomicsDBi53827

Protocols and materials databases

DNASUi175
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264595; ENSP00000264595; ENSG00000038002
GeneIDi175
KEGGihsa:175
UCSCiuc003iuu.3 human

Organism-specific databases

CTDi175
DisGeNETi175
EuPathDBiHostDB:ENSG00000038002.8
GeneCardsiAGA
H-InvDBiHIX0004652
HGNCiHGNC:318 AGA
HPAiHPA031415
HPA031417
MalaCardsiAGA
MIMi208400 phenotype
613228 gene
neXtProtiNX_P20933
OpenTargetsiENSG00000038002
Orphaneti93 Aspartylglucosaminuria
PharmGKBiPA24615
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1593 Eukaryota
COG1446 LUCA
GeneTreeiENSGT00530000063034
HOVERGENiHBG004289
InParanoidiP20933
KOiK01444
OMAiNIENHDT
OrthoDBiEOG091G0L36
PhylomeDBiP20933
TreeFamiTF300756

Enzyme and pathway databases

BioCyciMetaCyc:HS00528-MONOMER
BRENDAi3.5.1.26 2681
ReactomeiR-HSA-6798695 Neutrophil degranulation
SABIO-RKiP20933

Miscellaneous databases

ChiTaRSiAGA human
EvolutionaryTraceiP20933
GeneWikiiAspartylglucosaminidase
GenomeRNAii175
PMAP-CutDBiP20933
PROiPR:P20933
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000038002 Expressed in 223 organ(s), highest expression level in testis
CleanExiHS_AGA
ExpressionAtlasiP20933 baseline and differential
GenevisibleiP20933 HS

Family and domain databases

InterProiView protein in InterPro
IPR029055 Ntn_hydrolases_N
IPR000246 Peptidase_T2
PANTHERiPTHR10188 PTHR10188, 1 hit
PfamiView protein in Pfam
PF01112 Asparaginase_2, 1 hit
SUPFAMiSSF56235 SSF56235, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiASPG_HUMAN
AccessioniPrimary (citable) accession number: P20933
Secondary accession number(s): B2R7H2
, D3DP47, Q4W5Q2, Q6FHN6, Q9UCK6, Q9UCK7, Q9UCK8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: February 9, 2010
Last modified: October 10, 2018
This is version 183 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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