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Protein

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

Gene

AGA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei206Nucleophile1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • hydrolase activity Source: GO_Central
  • N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity Source: UniProtKB
  • peptidase activity Source: UniProtKB-KW
  • protein self-association Source: Ensembl

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...
BioCyci
MetaCyc:HS00528-MONOMER

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.5.1.26 2681

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6798695 Neutrophil degranulation

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
P20933

Protein family/group databases

MEROPS protease database

More...
MEROPSi
T02.001

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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:
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:AGA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000038002.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:318 AGA

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
613228 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P20933

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
175

MalaCards human disease database

More...
MalaCardsi
AGA
MIMi208400 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000038002

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93 Aspartylglucosaminuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24615

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
AGA

Domain mapping of disease mutations (DMDM)

More...
DMDMi
288558804

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 23Combined sources1 PublicationAdd BLAST23
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000233324 – 205Glycosylasparaginase alpha chainAdd BLAST182
ChainiPRO_0000002334206 – 346Glycosylasparaginase beta chainAdd BLAST141

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei24Blocked amino end (Ser)1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi38N-linked (GlcNAc...) asparagineCombined sources3 Publications1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
P20933

MaxQB - The MaxQuant DataBase

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MaxQBi
P20933

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P20933

PeptideAtlas

More...
PeptideAtlasi
P20933

PRoteomics IDEntifications database

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PRIDEi
P20933

ProteomicsDB human proteome resource

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ProteomicsDBi
53827

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1530

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P20933

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P20933

Miscellaneous databases

CutDB - Proteolytic event database

More...
PMAP-CutDBi
P20933

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000038002 Expressed in 223 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_AGA

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P20933 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P20933 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA031415
HPA031417

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106683, 8 interactors

Protein interaction database and analysis system

More...
IntActi
P20933, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264595

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P20933

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P20933

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P20933

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P20933

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni234 – 237Substrate binding1 Publication4
Regioni257 – 260Substrate binding1 Publication4

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Ntn-hydrolase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1593 Eukaryota
COG1446 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153552

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004289

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P20933

KEGG Orthology (KO)

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KOi
K01444

Identification of Orthologs from Complete Genome Data

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OMAi
NIENHDT

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0L36

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P20933

TreeFam database of animal gene trees

More...
TreeFami
TF300756

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029055 Ntn_hydrolases_N
IPR000246 Peptidase_T2

The PANTHER Classification System

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PANTHERi
PTHR10188 PTHR10188, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01112 Asparaginase_2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF56235 SSF56235, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i766F1690B5B62FFA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

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

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8L9H0Y8L9_HUMAN
N(4)-(beta-N-acetylglucosaminyl)-L-...
AGA
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS3829.1

Protein sequence database of the Protein Information Resource

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PIRi
S11343 MUHUGD

NCBI Reference Sequences

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RefSeqi
NP_000018.2, NM_000027.3
NP_001165459.1, NM_001171988.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.207776

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000264595; ENSP00000264595; ENSG00000038002

Database of genes from NCBI RefSeq genomes

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GeneIDi
175

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:175

UCSC genome browser

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UCSCi
uc003iuu.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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

The DNASU plasmid repository

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DNASUi
175
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
175
DisGeNETi175
EuPathDBiHostDB:ENSG00000038002.8

GeneCards: human genes, protein and diseases

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GeneCardsi
AGA

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0004652
HGNCiHGNC:318 AGA
HPAiHPA031415
HPA031417
MalaCardsiAGA
MIMi208400 phenotype
613228 gene
neXtProtiNX_P20933
OpenTargetsiENSG00000038002
Orphaneti93 Aspartylglucosaminuria
PharmGKBiPA24615

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1593 Eukaryota
COG1446 LUCA
GeneTreeiENSGT00940000153552
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
AGA human
EvolutionaryTraceiP20933

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Aspartylglucosaminidase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
175
PMAP-CutDBiP20933

Protein Ontology

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PROi
PR:P20933

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiASPG_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P20933
Secondary accession number(s): B2R7H2
, D3DP47, Q4W5Q2, Q6FHN6, Q9UCK6, Q9UCK7, Q9UCK8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1991
Last sequence update: February 9, 2010
Last modified: December 5, 2018
This is version 185 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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

Documents

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