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Entry version 187 (16 Oct 2019)
Sequence version 2 (11 Jan 2011)
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Protein

Alpha-N-acetylglucosaminidase

Gene

NAGLU

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

Involved in the degradation of heparan sulfate.

Caution

A MPS3B mutation at position 100 was erroneously reported (PubMed:9950362) as an amino acid change from Arg to His. The right amino acid change is from His to Arg.1 Publication

<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

  • Hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. EC:3.2.1.50

<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

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 functionGlycosidase, Hydrolase

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.2.1.50 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2024096 HS-GAG degradation
R-HSA-2206282 MPS IIIB - Sanfilippo syndrome B

Protein family/group databases

Carbohydrate-Active enZymes

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CAZyi
GH89 Glycoside Hydrolase Family 89

<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:
Alpha-N-acetylglucosaminidase (EC:3.2.1.50)
Alternative name(s):
N-acetyl-alpha-glucosaminidase
Short name:
NAG
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:NAGLU
Synonyms:UFHSD1
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7632 NAGLU

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609701 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P54802

<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 & Seán O’Donoghue; 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

Mucopolysaccharidosis 3B (MPS3B)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Related information in OMIM
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_05469935L → F in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_05470038R → W in MPS3B; decreases the enzyme activity markedly. 1 PublicationCorresponds to variant dbSNP:rs1460260015Ensembl.1
Natural variantiVAR_05470148F → C in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs867910252Ensembl.1
Natural variantiVAR_02548948F → L in MPS3B; associated with a partially degraded polypeptide in a 16-hour chase experiment suggesting that L-48 NAGLU affects the processing and stability of the gene; some L-48 NAGLU is being correctly sorted to the lysosomal compartment. 2 PublicationsCorresponds to variant dbSNP:rs104894599EnsemblClinVar.1
Natural variantiVAR_05470269G → S in MPS3B. 1 Publication1
Natural variantiVAR_05470377V → G in MPS3B; decreases the enzyme activity markedly. 1 Publication1
Natural variantiVAR_00897979G → C in MPS3B. 2 Publications1
Natural variantiVAR_05470479G → S in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1276484671Ensembl.1
Natural variantiVAR_05470582G → D in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_00500792Y → H in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1555621454EnsemblClinVar.1
Natural variantiVAR_008980100H → R in MPS3B. 1 Publication1
Natural variantiVAR_005008115P → S in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs758785463EnsemblClinVar.1
Natural variantiVAR_054706130R → C in MPS3B; does not yield active enzyme. 2 Publications1
Natural variantiVAR_005009140Y → C in MPS3B. 6 PublicationsCorresponds to variant dbSNP:rs753520553EnsemblClinVar.1
Natural variantiVAR_008981142Missing in MPS3B. 1 Publication1
Natural variantiVAR_079424153 – 743Missing in MPS3B. 1 PublicationAdd BLAST591
Natural variantiVAR_005010153E → K in MPS3B. 2 Publications1
Natural variantiVAR_054707154I → R in MPS3B; does not yield active enzyme. 1 PublicationCorresponds to variant dbSNP:rs770684838EnsemblClinVar.1
Natural variantiVAR_054708156W → C in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_054709227H → P in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs747155746EnsemblClinVar.1
Natural variantiVAR_054710234R → C in MPS3B. 3 PublicationsCorresponds to variant dbSNP:rs104894601EnsemblClinVar.1
Natural variantiVAR_054711241V → M in MPS3B. 1 Publication1
Natural variantiVAR_054712242L → P in MPS3B; no enzyme activity. 1 Publication1
Natural variantiVAR_008982243P → L in MPS3B. 1 Publication1
Natural variantiVAR_054713246A → P in MPS3B; produces 12.7% residual enzyme activity. 1 Publication1
Natural variantiVAR_054714248H → R in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs1465855291Ensembl.1
Natural variantiVAR_054715268W → R in MPS3B. 1 Publication1
Natural variantiVAR_008983277C → F in MPS3B. 1 Publication1
Natural variantiVAR_008984280L → P in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1392732615Ensembl.1
Natural variantiVAR_008985292G → R in MPS3B. 4 PublicationsCorresponds to variant dbSNP:rs1358994052EnsemblClinVar.1
Natural variantiVAR_054716309Y → C in MPS3B; does not yield active enzyme. 2 PublicationsCorresponds to variant dbSNP:rs1305299665Ensembl.1
Natural variantiVAR_025490314F → L in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs104894600Ensembl.1
Natural variantiVAR_054717334V → F in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs749140168EnsemblClinVar.1
Natural variantiVAR_054718335Y → C in MPS3B; decreases the enzyme activity markedly. 1 PublicationCorresponds to variant dbSNP:rs768918822EnsemblClinVar.1
Natural variantiVAR_005011358P → L in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs368687817EnsemblClinVar.1
Natural variantiVAR_054719410F → S in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs574688121EnsemblClinVar.1
Natural variantiVAR_054720412G → E in MPS3B; does not yield active enzyme. 1 Publication1
Natural variantiVAR_054721414H → R in MPS3B; no enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs768814260EnsemblClinVar.1
Natural variantiVAR_054722437T → I in MPS3B. 1 Publication1
Natural variantiVAR_054723446E → K in MPS3B; no enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs114625063EnsemblClinVar.1
Natural variantiVAR_008986452E → K in MPS3B. 3 PublicationsCorresponds to variant dbSNP:rs1183634153Ensembl.1
Natural variantiVAR_054724455Y → C in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs375103824EnsemblClinVar.1
Natural variantiVAR_054725474W → G in MPS3B. 1 Publication1
Natural variantiVAR_054726482R → Q in MPS3B; no enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs200909691EnsemblClinVar.1
Natural variantiVAR_008987482R → W in MPS3B. 3 PublicationsCorresponds to variant dbSNP:rs104894596EnsemblClinVar.1
Natural variantiVAR_054727501V → G in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_054728516P → L in MPS3B; no enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs773054539Ensembl.1
Natural variantiVAR_054729520R → W in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 2 PublicationsCorresponds to variant dbSNP:rs992677795EnsemblClinVar.1
Natural variantiVAR_025491521P → L in MPS3B; accounts for approximately 6% of mutations in Australasian patients with MPS3B. 4 PublicationsCorresponds to variant dbSNP:rs104894595EnsemblClinVar.1
Natural variantiVAR_054730534S → Y in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_079425550L → P in MPS3B; unknown pathological significance. 1 Publication1
Natural variantiVAR_054731560L → P in MPS3B. 1 Publication1
Natural variantiVAR_008988561L → R in MPS3B. 1 Publication1
Natural variantiVAR_025492565R → P in MPS3B; does not yield active enzyme. 3 PublicationsCorresponds to variant dbSNP:rs104894598EnsemblClinVar.1
Natural variantiVAR_008989565R → Q in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs104894598EnsemblClinVar.1
Natural variantiVAR_025493565R → W in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B. 6 PublicationsCorresponds to variant dbSNP:rs104894597EnsemblClinVar.1
Natural variantiVAR_054732591L → P in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1215582852EnsemblClinVar.1
Natural variantiVAR_054733612S → G in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs148881970EnsemblClinVar.1
Natural variantiVAR_054734617L → F in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1555622482EnsemblClinVar.1
Natural variantiVAR_025494643R → C in MPS3B; accounts for approximately 20% of MPS3B alleles in a Dutch patient group. 1 PublicationCorresponds to variant dbSNP:rs104894594EnsemblClinVar.1
Natural variantiVAR_005012643R → H in MPS3B. Corresponds to variant dbSNP:rs104894593EnsemblClinVar.1
Natural variantiVAR_054735649W → C in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_054736650G → E in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs527236037EnsemblClinVar.1
Natural variantiVAR_054737658Y → F in MPS3B. 1 Publication1
Natural variantiVAR_005013664A → V in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs746006696EnsemblClinVar.1
Natural variantiVAR_054738674R → C in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs763299645EnsemblClinVar.1
Natural variantiVAR_005014674R → H in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs104894590EnsemblClinVar.1
Natural variantiVAR_054739676R → P in MPS3B. 1 Publication1
Natural variantiVAR_005015682L → R in MPS3B. 2 Publications1
Natural variantiVAR_008990705E → K in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs1364203992EnsemblClinVar.1
Charcot-Marie-Tooth disease 2V (CMT2V)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_074607403I → T in CMT2V. 1 PublicationCorresponds to variant dbSNP:rs796052122EnsemblClinVar.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Mucopolysaccharidosis, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

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DisGeNETi
4669

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
NAGLU

MalaCards human disease database

More...
MalaCardsi
NAGLU
MIMi252920 phenotype
616491 phenotype

Open Targets

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OpenTargetsi
ENSG00000108784

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

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Orphaneti
447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V
79270 Sanfilippo syndrome type B

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31437

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
P54802

Chemistry databases

Drug and drug target database

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DrugBanki
DB06773 Human calcitonin
DB00141 N-Acetylglucosamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NAGLU

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373322

<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 – 23Add 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_000002072824 – 743Alpha-N-acetylglucosaminidase 82 kDa formAdd BLAST720
ChainiPRO_000002072959 – 743Alpha-N-acetylglucosaminidase 77 kDa formAdd BLAST685

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Glycosylationi261N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi272N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi435N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi503N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi526N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi532N-linked (GlcNAc...) asparagineCombined sources2 Publications1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P54802

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P54802

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P54802

MaxQB - The MaxQuant DataBase

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MaxQBi
P54802

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

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PaxDbi
P54802

PeptideAtlas

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PeptideAtlasi
P54802

PRoteomics IDEntifications database

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PRIDEi
P54802

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56721

Consortium for Top Down Proteomics

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TopDownProteomicsi
P54802

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
803

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P54802

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

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PhosphoSitePlusi
P54802

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
P54802

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Liver, ovary, peripheral blood leukocytes, testis, prostate, spleen, colon, lung, placenta and kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000108784 Expressed in 206 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P54802 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54802 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038815

<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

Monomer and homodimer.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110750, 29 interactors

Protein interaction database and analysis system

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IntActi
P54802, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000225927

<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

1743
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P54802

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi68 – 71Poly-Gly4
Compositional biasi84 – 87Poly-Ala4

<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 glycosyl hydrolase 89 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2233 Eukaryota
ENOG410XNMK LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005900

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000214539

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54802

KEGG Orthology (KO)

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KOi
K01205

Identification of Orthologs from Complete Genome Data

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OMAi
LHDYGGN

Database of Orthologous Groups

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OrthoDBi
584128at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P54802

TreeFam database of animal gene trees

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TreeFami
TF300689

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.379.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017853 Glycoside_hydrolase_SF
IPR029018 Hex-like_dom2
IPR007781 NAGLU
IPR024732 NAGLU_C
IPR024240 NAGLU_N
IPR024733 NAGLU_tim-barrel

The PANTHER Classification System

More...
PANTHERi
PTHR12872 PTHR12872, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF05089 NAGLU, 1 hit
PF12972 NAGLU_C, 1 hit
PF12971 NAGLU_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF51445 SSF51445, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<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 4 potential isoforms that are computationally mapped.Show allAlign All

P54802-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEAVAVAAAV GVLLLAGAGG AAGDEAREAA AVRALVARLL GPGPAADFSV
60 70 80 90 100
SVERALAAKP GLDTYSLGGG GAARVRVRGS TGVAAAAGLH RYLRDFCGCH
110 120 130 140 150
VAWSGSQLRL PRPLPAVPGE LTEATPNRYR YYQNVCTQSY SFVWWDWARW
160 170 180 190 200
EREIDWMALN GINLALAWSG QEAIWQRVYL ALGLTQAEIN EFFTGPAFLA
210 220 230 240 250
WGRMGNLHTW DGPLPPSWHI KQLYLQHRVL DQMRSFGMTP VLPAFAGHVP
260 270 280 290 300
EAVTRVFPQV NVTKMGSWGH FNCSYSCSFL LAPEDPIFPI IGSLFLRELI
310 320 330 340 350
KEFGTDHIYG ADTFNEMQPP SSEPSYLAAA TTAVYEAMTA VDTEAVWLLQ
360 370 380 390 400
GWLFQHQPQF WGPAQIRAVL GAVPRGRLLV LDLFAESQPV YTRTASFQGQ
410 420 430 440 450
PFIWCMLHNF GGNHGLFGAL EAVNGGPEAA RLFPNSTMVG TGMAPEGISQ
460 470 480 490 500
NEVVYSLMAE LGWRKDPVPD LAAWVTSFAA RRYGVSHPDA GAAWRLLLRS
510 520 530 540 550
VYNCSGEACR GHNRSPLVRR PSLQMNTSIW YNRSDVFEAW RLLLTSAPSL
560 570 580 590 600
ATSPAFRYDL LDLTRQAVQE LVSLYYEEAR SAYLSKELAS LLRAGGVLAY
610 620 630 640 650
ELLPALDEVL ASDSRFLLGS WLEQARAAAV SEAEADFYEQ NSRYQLTLWG
660 670 680 690 700
PEGNILDYAN KQLAGLVANY YTPRWRLFLE ALVDSVAQGI PFQQHQFDKN
710 720 730 740
VFQLEQAFVL SKQRYPSQPR GDTVDLAKKI FLKYYPRWVA GSW
Length:743
Mass (Da):82,266
Last modified:January 11, 2011 - 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:i6D8D6A42C7BA7CF3
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ENX5K7ENX5_HUMAN
Alpha-N-acetylglucosaminidase
NAGLU
170Annotation 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>
K7EQH9K7EQH9_HUMAN
Alpha-N-acetylglucosaminidase
NAGLU
122Annotation 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>
K7ESD7K7ESD7_HUMAN
Alpha-N-acetylglucosaminidase
NAGLU
65Annotation 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>
K7END1K7END1_HUMAN
Alpha-N-acetylglucosaminidase
NAGLU
81Annotation 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 conflicti551A → L AA sequence (PubMed:8776591).Curated1
Sequence conflicti553S → L AA sequence (PubMed:8776591).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05469935L → F in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_05470038R → W in MPS3B; decreases the enzyme activity markedly. 1 PublicationCorresponds to variant dbSNP:rs1460260015Ensembl.1
Natural variantiVAR_05470148F → C in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs867910252Ensembl.1
Natural variantiVAR_02548948F → L in MPS3B; associated with a partially degraded polypeptide in a 16-hour chase experiment suggesting that L-48 NAGLU affects the processing and stability of the gene; some L-48 NAGLU is being correctly sorted to the lysosomal compartment. 2 PublicationsCorresponds to variant dbSNP:rs104894599EnsemblClinVar.1
Natural variantiVAR_05470269G → S in MPS3B. 1 Publication1
Natural variantiVAR_05470377V → G in MPS3B; decreases the enzyme activity markedly. 1 Publication1
Natural variantiVAR_00897979G → C in MPS3B. 2 Publications1
Natural variantiVAR_05470479G → S in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1276484671Ensembl.1
Natural variantiVAR_05470582G → D in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_00500792Y → H in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1555621454EnsemblClinVar.1
Natural variantiVAR_008980100H → R in MPS3B. 1 Publication1
Natural variantiVAR_005008115P → S in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs758785463EnsemblClinVar.1
Natural variantiVAR_054706130R → C in MPS3B; does not yield active enzyme. 2 Publications1
Natural variantiVAR_005009140Y → C in MPS3B. 6 PublicationsCorresponds to variant dbSNP:rs753520553EnsemblClinVar.1
Natural variantiVAR_008981142Missing in MPS3B. 1 Publication1
Natural variantiVAR_079424153 – 743Missing in MPS3B. 1 PublicationAdd BLAST591
Natural variantiVAR_005010153E → K in MPS3B. 2 Publications1
Natural variantiVAR_054707154I → R in MPS3B; does not yield active enzyme. 1 PublicationCorresponds to variant dbSNP:rs770684838EnsemblClinVar.1
Natural variantiVAR_054708156W → C in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_054709227H → P in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs747155746EnsemblClinVar.1
Natural variantiVAR_054710234R → C in MPS3B. 3 PublicationsCorresponds to variant dbSNP:rs104894601EnsemblClinVar.1
Natural variantiVAR_054711241V → M in MPS3B. 1 Publication1
Natural variantiVAR_054712242L → P in MPS3B; no enzyme activity. 1 Publication1
Natural variantiVAR_008982243P → L in MPS3B. 1 Publication1
Natural variantiVAR_054713246A → P in MPS3B; produces 12.7% residual enzyme activity. 1 Publication1
Natural variantiVAR_054714248H → R in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs1465855291Ensembl.1
Natural variantiVAR_054715268W → R in MPS3B. 1 Publication1
Natural variantiVAR_008983277C → F in MPS3B. 1 Publication1
Natural variantiVAR_008984280L → P in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1392732615Ensembl.1
Natural variantiVAR_008985292G → R in MPS3B. 4 PublicationsCorresponds to variant dbSNP:rs1358994052EnsemblClinVar.1
Natural variantiVAR_054716309Y → C in MPS3B; does not yield active enzyme. 2 PublicationsCorresponds to variant dbSNP:rs1305299665Ensembl.1
Natural variantiVAR_025490314F → L in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs104894600Ensembl.1
Natural variantiVAR_054717334V → F in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs749140168EnsemblClinVar.1
Natural variantiVAR_054718335Y → C in MPS3B; decreases the enzyme activity markedly. 1 PublicationCorresponds to variant dbSNP:rs768918822EnsemblClinVar.1
Natural variantiVAR_005011358P → L in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs368687817EnsemblClinVar.1
Natural variantiVAR_074607403I → T in CMT2V. 1 PublicationCorresponds to variant dbSNP:rs796052122EnsemblClinVar.1
Natural variantiVAR_054719410F → S in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs574688121EnsemblClinVar.1
Natural variantiVAR_054720412G → E in MPS3B; does not yield active enzyme. 1 Publication1
Natural variantiVAR_054721414H → R in MPS3B; no enzyme activity. 3 PublicationsCorresponds to variant dbSNP:rs768814260EnsemblClinVar.1
Natural variantiVAR_054722437T → I in MPS3B. 1 Publication1
Natural variantiVAR_054723446E → K in MPS3B; no enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs114625063EnsemblClinVar.1
Natural variantiVAR_008986452E → K in MPS3B. 3 PublicationsCorresponds to variant dbSNP:rs1183634153Ensembl.1
Natural variantiVAR_054724455Y → C in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs375103824EnsemblClinVar.1
Natural variantiVAR_054725474W → G in MPS3B. 1 Publication1
Natural variantiVAR_054726482R → Q in MPS3B; no enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs200909691EnsemblClinVar.1
Natural variantiVAR_008987482R → W in MPS3B. 3 PublicationsCorresponds to variant dbSNP:rs104894596EnsemblClinVar.1
Natural variantiVAR_054727501V → G in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_054728516P → L in MPS3B; no enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs773054539Ensembl.1
Natural variantiVAR_054729520R → W in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 2 PublicationsCorresponds to variant dbSNP:rs992677795EnsemblClinVar.1
Natural variantiVAR_025491521P → L in MPS3B; accounts for approximately 6% of mutations in Australasian patients with MPS3B. 4 PublicationsCorresponds to variant dbSNP:rs104894595EnsemblClinVar.1
Natural variantiVAR_054730534S → Y in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_079425550L → P in MPS3B; unknown pathological significance. 1 Publication1
Natural variantiVAR_054731560L → P in MPS3B. 1 Publication1
Natural variantiVAR_008988561L → R in MPS3B. 1 Publication1
Natural variantiVAR_025492565R → P in MPS3B; does not yield active enzyme. 3 PublicationsCorresponds to variant dbSNP:rs104894598EnsemblClinVar.1
Natural variantiVAR_008989565R → Q in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs104894598EnsemblClinVar.1
Natural variantiVAR_025493565R → W in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B. 6 PublicationsCorresponds to variant dbSNP:rs104894597EnsemblClinVar.1
Natural variantiVAR_054732591L → P in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1215582852EnsemblClinVar.1
Natural variantiVAR_054733612S → G in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs148881970EnsemblClinVar.1
Natural variantiVAR_054734617L → F in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs1555622482EnsemblClinVar.1
Natural variantiVAR_025494643R → C in MPS3B; accounts for approximately 20% of MPS3B alleles in a Dutch patient group. 1 PublicationCorresponds to variant dbSNP:rs104894594EnsemblClinVar.1
Natural variantiVAR_005012643R → H in MPS3B. Corresponds to variant dbSNP:rs104894593EnsemblClinVar.1
Natural variantiVAR_054735649W → C in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type. 1 Publication1
Natural variantiVAR_054736650G → E in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs527236037EnsemblClinVar.1
Natural variantiVAR_054737658Y → F in MPS3B. 1 Publication1
Natural variantiVAR_005013664A → V in MPS3B. 1 PublicationCorresponds to variant dbSNP:rs746006696EnsemblClinVar.1
Natural variantiVAR_054738674R → C in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs763299645EnsemblClinVar.1
Natural variantiVAR_005014674R → H in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs104894590EnsemblClinVar.1
Natural variantiVAR_054739676R → P in MPS3B. 1 Publication1
Natural variantiVAR_005015682L → R in MPS3B. 2 Publications1
Natural variantiVAR_008990705E → K in MPS3B. 2 PublicationsCorresponds to variant dbSNP:rs1364203992EnsemblClinVar.1
Natural variantiVAR_008991737R → G6 PublicationsCorresponds to variant dbSNP:rs86312EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U43572 Genomic DNA Translation: AAC50512.1
U43573 mRNA Translation: AAC50513.1
U40846 mRNA Translation: AAB06188.1
L78464 mRNA Translation: AAB36604.1
AC067852 Genomic DNA No translation available.
BC053991 mRNA Translation: AAH53991.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11427.1

Protein sequence database of the Protein Information Resource

More...
PIRi
G02270

NCBI Reference Sequences

More...
RefSeqi
NP_000254.2, NM_000263.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000225927; ENSP00000225927; ENSG00000108784

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
4669

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4669

UCSC genome browser

More...
UCSCi
uc002hzv.4 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
U43572 Genomic DNA Translation: AAC50512.1
U43573 mRNA Translation: AAC50513.1
U40846 mRNA Translation: AAB06188.1
L78464 mRNA Translation: AAB36604.1
AC067852 Genomic DNA No translation available.
BC053991 mRNA Translation: AAH53991.1
CCDSiCCDS11427.1
PIRiG02270
RefSeqiNP_000254.2, NM_000263.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4XWHX-ray2.32A24-743[»]
SMRiP54802
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi110750, 29 interactors
IntActiP54802, 21 interactors
STRINGi9606.ENSP00000225927

Chemistry databases

DrugBankiDB06773 Human calcitonin
DB00141 N-Acetylglucosamine

Protein family/group databases

CAZyiGH89 Glycoside Hydrolase Family 89

PTM databases

GlyConnecti803
iPTMnetiP54802
PhosphoSitePlusiP54802
UniCarbKBiP54802

Polymorphism and mutation databases

BioMutaiNAGLU
DMDMi317373322

Proteomic databases

EPDiP54802
jPOSTiP54802
MassIVEiP54802
MaxQBiP54802
PaxDbiP54802
PeptideAtlasiP54802
PRIDEiP54802
ProteomicsDBi56721
TopDownProteomicsiP54802

Genome annotation databases

EnsembliENST00000225927; ENSP00000225927; ENSG00000108784
GeneIDi4669
KEGGihsa:4669
UCSCiuc002hzv.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4669
DisGeNETi4669

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NAGLU
GeneReviewsiNAGLU
HGNCiHGNC:7632 NAGLU
HPAiHPA038815
MalaCardsiNAGLU
MIMi252920 phenotype
609701 gene
616491 phenotype
neXtProtiNX_P54802
OpenTargetsiENSG00000108784
Orphaneti447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V
79270 Sanfilippo syndrome type B
PharmGKBiPA31437

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2233 Eukaryota
ENOG410XNMK LUCA
GeneTreeiENSGT00390000005900
HOGENOMiHOG000214539
InParanoidiP54802
KOiK01205
OMAiLHDYGGN
OrthoDBi584128at2759
PhylomeDBiP54802
TreeFamiTF300689

Enzyme and pathway databases

BRENDAi3.2.1.50 2681
ReactomeiR-HSA-2024096 HS-GAG degradation
R-HSA-2206282 MPS IIIB - Sanfilippo syndrome B

Miscellaneous databases

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

More...
ChiTaRSi
NAGLU human

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

More...
GenomeRNAii
4669
PharosiP54802

Protein Ontology

More...
PROi
PR:P54802

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000108784 Expressed in 206 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiP54802 baseline and differential
GenevisibleiP54802 HS

Family and domain databases

Gene3Di3.30.379.10, 1 hit
InterProiView protein in InterPro
IPR017853 Glycoside_hydrolase_SF
IPR029018 Hex-like_dom2
IPR007781 NAGLU
IPR024732 NAGLU_C
IPR024240 NAGLU_N
IPR024733 NAGLU_tim-barrel
PANTHERiPTHR12872 PTHR12872, 1 hit
PfamiView protein in Pfam
PF05089 NAGLU, 1 hit
PF12972 NAGLU_C, 1 hit
PF12971 NAGLU_N, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiANAG_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: P54802
<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: October 1, 1996
Last sequence update: January 11, 2011
Last modified: October 16, 2019
This is version 187 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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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