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UniProtKB - P35475 (IDUA_HUMAN)

Entry version 195 (02 Jun 2021)
Sequence version 2 (04 Apr 2006)
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Protein

Alpha-L-iduronidase

Gene

IDUA

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei91Substrate1
Binding sitei181Substrate1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 sitei182Proton donorPROSITE-ProRule annotation1 Publication1
Binding sitei264Substrate1
Active sitei299Nucleophile1 Publication1
Binding sitei349Substrate1
Binding sitei363Substrate1

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS05096-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.2.1.76, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P35475

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-2024096, HS-GAG degradation
R-HSA-2024101, CS/DS degradation
R-HSA-2206302, MPS I - Hurler syndrome

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		P35475

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GH39, Glycoside Hydrolase Family 39

<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%5Fand%5Ftaxonomy%5Fsection">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-L-iduronidase (EC:3.2.1.76)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:IDUA
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Human Gene Nomenclature Database

More...HGNCi		HGNC:5391, IDUA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		252800, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P35475

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000127415.12

<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

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 1H (MPS1H)15 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.
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_00334916 – 19Missing in MPS1H. 1 Publication4
Natural variantiVAR_00335151G → D in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs794726877EnsemblClinVar.1
Natural variantiVAR_00335275A → T in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs758452450EnsemblClinVar.1
Natural variantiVAR_066217103T → P in MPS1H; uncertain pathological role. 1 Publication1
Natural variantiVAR_020977133M → I in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs558683362EnsemblClinVar.1
Natural variantiVAR_020978182E → K in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs754154200Ensembl.1
Natural variantiVAR_020979208G → D in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1430681871EnsemblClinVar.1
Natural variantiVAR_003358218L → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs869025584EnsemblClinVar.1
Natural variantiVAR_003360315D → Y in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Natural variantiVAR_003361327A → P in MPS1H; MPS1H/S. 5 PublicationsCorresponds to variant dbSNP:rs199801029EnsemblClinVar.1
Natural variantiVAR_003363349 – 350Missing in MPS1H. 1 Publication2
Natural variantiVAR_003362349D → N in MPS1H. Corresponds to variant dbSNP:rs368454909EnsemblClinVar.1
Natural variantiVAR_020982349D → Y in MPS1H. 1 Publication1
Natural variantiVAR_003365366T → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs121965024EnsemblClinVar.1
Natural variantiVAR_066225385P → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1553917309EnsemblClinVar.1
Natural variantiVAR_003368388T → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs794727896EnsemblClinVar.1
Natural variantiVAR_003369396L → LALL in MPS1H. 1
Natural variantiVAR_003370409G → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs11934801EnsemblClinVar.1
Natural variantiVAR_003373489R → P in MPS1H. 1 Publication1
Natural variantiVAR_003378533P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant dbSNP:rs121965021EnsemblClinVar.1
Natural variantiVAR_072368620V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Mucopolysaccharidosis 1H/S (MPS1H/S)8 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to mid-teens, causing considerable loss of mobility.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02097579A → V in MPS1H/S; reduction of activity and protein levels. 1 PublicationCorresponds to variant dbSNP:rs747981483EnsemblClinVar.1
Natural variantiVAR_00335382H → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs794727239EnsemblClinVar.1
Natural variantiVAR_06621684G → R in MPS1H/S. 1 Publication1
Natural variantiVAR_066218178E → K in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs992336192Ensembl.1
Natural variantiVAR_066219188F → L in MPS1H/S; associated with R-423. 1 Publication1
Natural variantiVAR_020980238L → Q in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs148789453EnsemblClinVar.1
Natural variantiVAR_020981260S → F in MPS1H/S. 1 Publication1
Natural variantiVAR_066221265G → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs369090960EnsemblClinVar.1
Natural variantiVAR_066222276E → K in MPS1H/S and MPS1S. 1 Publication1
Natural variantiVAR_017436346L → R in MPS1H/S; 0.4% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965033EnsemblClinVar.1
Natural variantiVAR_020984363R → C in MPS1H/S; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs750496798EnsemblClinVar.1
Natural variantiVAR_003366380Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant dbSNP:rs762903007EnsemblClinVar.1
Natural variantiVAR_066226396L → P in MPS1H/S. 1 Publication1
Natural variantiVAR_020985423S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 PublicationsCorresponds to variant dbSNP:rs931627770Ensembl.1
Natural variantiVAR_066227436A → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003374490L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965027EnsemblClinVar.1
Natural variantiVAR_003376496P → L in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar.1
Natural variantiVAR_066229496P → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar.1
Natural variantiVAR_003377504M → T in MPS1H/S. 1 Publication1
Natural variantiVAR_003378533P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant dbSNP:rs121965021EnsemblClinVar.1
Natural variantiVAR_066230535L → F in MPS1H/S. 1 Publication1
Natural variantiVAR_020986602F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication1
Natural variantiVAR_017437619R → G in MPS1H/S; 1.5% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965031EnsemblClinVar.1
Natural variantiVAR_003379626W → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs1281475543Ensembl.1
Natural variantiVAR_020987628R → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs200448421Ensembl.1
Mucopolysaccharidosis 1S (MPS1S)8 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236718L → P in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs794726878EnsemblClinVar.1
Natural variantiVAR_06621576Y → C in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs780165694EnsemblClinVar.1
Natural variantiVAR_00335489R → Q in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965029EnsemblClinVar.1
Natural variantiVAR_00335589R → W in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs754966840EnsemblClinVar.1
Natural variantiVAR_066220219G → E in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs1230234600Ensembl.1
Natural variantiVAR_066222276E → K in MPS1H/S and MPS1S. 1 Publication1
Natural variantiVAR_066223306W → L in MPS1S. 1 Publication1
Natural variantiVAR_066224348N → K in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs746766617EnsemblClinVar.1
Natural variantiVAR_020983350N → I in MPS1S. 1 Publication1
Natural variantiVAR_003366380Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant dbSNP:rs762903007EnsemblClinVar.1
Natural variantiVAR_003367383R → H in MPS1S; 2-3% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs754949360EnsemblClinVar.1
Natural variantiVAR_020985423S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 PublicationsCorresponds to variant dbSNP:rs931627770Ensembl.1
Natural variantiVAR_003371445Missing in MPS1S. 1 Publication1
Natural variantiVAR_003374490L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965027EnsemblClinVar.1
Natural variantiVAR_003375492R → P in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965026EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

More...DisGeNETi		3425

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

More...GeneReviewsi		IDUA

MalaCards human disease database

More...MalaCardsi		IDUA
MIMi607014, phenotype
607015, phenotype
607016, phenotype

Open Targets

More...OpenTargetsi		ENSG00000127415

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

More...Orphaneti		93473, Hurler syndrome
93476, Hurler-Scheie syndrome
93474, Scheie syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29638

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P35475, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB09301, Chondroitin sulfate

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IDUA

Domain mapping of disease mutations (DMDM)

More...DMDMi		92090608

<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 – 27Sequence analysisAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001220028 – 653Alpha-L-iduronidaseAdd BLAST626

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi110N-linked (GlcNAc...) asparagine3 Publications1
Glycosylationi190N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi336N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi372N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi415N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi451N-linked (GlcNAc...) asparagine1 Publication1
<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 bondi541 ↔ 5772 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

N-glycosylation at Asn-372 contributes to substrate binding and is required for full enzymatic activity.3 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P35475

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P35475

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P35475

MaxQB - The MaxQuant DataBase

More...MaxQBi		P35475

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

More...PaxDbi		P35475

PeptideAtlas

More...PeptideAtlasi		P35475

PRoteomics IDEntifications database

More...PRIDEi		P35475

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		3793
55068 [P35475-1]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1006, 5 N-Linked glycans (2 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P35475, 6 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P35475

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

More...PhosphoSitePlusi		P35475

<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

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000127415, Expressed in right hemisphere of cerebellum and 161 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P35475, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P35475, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000127415, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

2 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109651, 5 interactors

Protein interaction database and analysis system

More...IntActi		P35475, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000247933

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P35475, protein

<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

1653
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

More...SMRi		P35475

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...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

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>Regioni305 – 306Substrate binding2

<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 39 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QRES, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000015494

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P35475

Identification of Orthologs from Complete Genome Data

More...OMAi		AHYTSGD

Database for complete collections of gene phylogenies

More...PhylomeDBi		P35475

TreeFam database of animal gene trees

More...TreeFami		TF323228

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000514, Glyco_hydro_39
IPR017853, Glycoside_hydrolase_SF
IPR013783, Ig-like_fold

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01229, Glyco_hydro_39, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00745, GLHYDRLASE39

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF51445, SSF51445, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS01027, GLYCOSYL_HYDROL_F39, 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%5Flength">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>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: P35475-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRPLRPRAAL LALLASLLAA PPVAPAEAPH LVHVDAARAL WPLRRFWRST 
        60         70         80         90        100
GFCPPLPHSQ ADQYVLSWDQ QLNLAYVGAV PHRGIKQVRT HWLLELVTTR 
       110        120        130        140        150
GSTGRGLSYN FTHLDGYLDL LRENQLLPGF ELMGSASGHF TDFEDKQQVF 
       160        170        180        190        200
EWKDLVSSLA RRYIGRYGLA HVSKWNFETW NEPDHHDFDN VSMTMQGFLN 
       210        220        230        240        250
YYDACSEGLR AASPALRLGG PGDSFHTPPR SPLSWGLLRH CHDGTNFFTG 
       260        270        280        290        300
EAGVRLDYIS LHRKGARSSI SILEQEKVVA QQIRQLFPKF ADTPIYNDEA 
       310        320        330        340        350
DPLVGWSLPQ PWRADVTYAA MVVKVIAQHQ NLLLANTTSA FPYALLSNDN 
       360        370        380        390        400
AFLSYHPHPF AQRTLTARFQ VNNTRPPHVQ LLRKPVLTAM GLLALLDEEQ 
       410        420        430        440        450
LWAEVSQAGT VLDSNHTVGV LASAHRPQGP ADAWRAAVLI YASDDTRAHP 
       460        470        480        490        500
NRSVAVTLRL RGVPPGPGLV YVTRYLDNGL CSPDGEWRRL GRPVFPTAEQ 
       510        520        530        540        550
FRRMRAAEDP VAAAPRPLPA GGRLTLRPAL RLPSLLLVHV CARPEKPPGQ 
       560        570        580        590        600
VTRLRALPLT QGQLVLVWSD EHVGSKCLWT YEIQFSQDGK AYTPVSRKPS 
       610        620        630        640        650
TFNLFVFSPD TGAVSGSYRV RALDYWARPG PFSDPVPYLE VPVPRGPPSP 

GNP
Length:653
Mass (Da):72,670
Last modified:April 4, 2006 - 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:i9D2399B22FD172BD
GO
Isoform 2 (identifier: P35475-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     53-100: CPPLPHSQADQYVLSWDQQLNLAYVGAVPHRGIKQVRTHWLLELVTTR → W
     265-324: GARSSISILE...DVTYAAMVVK → VRPAPPSAPV...PGPSCPGHPQ

Show »
Length:675
Mass (Da):73,455
Checksum:i6599D5F961F1E06C
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
D6R9D5D6R9D5_HUMAN
Alpha-L-iduronidase
IDUA
224Annotation 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>
H0Y9R9H0Y9R9_HUMAN
Alpha-L-iduronidase
IDUA
195Annotation 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 conflicti622A → T in AAA51698 (PubMed:1505961).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00334916 – 19Missing in MPS1H. 1 Publication4
Natural variantiVAR_07236718L → P in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs794726878EnsemblClinVar.1
Natural variantiVAR_00335033H → Q5 PublicationsCorresponds to variant dbSNP:rs10794537EnsemblClinVar.1
Natural variantiVAR_00335151G → D in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs794726877EnsemblClinVar.1
Natural variantiVAR_00335275A → T in MPS1H. 2 PublicationsCorresponds to variant dbSNP:rs758452450EnsemblClinVar.1
Natural variantiVAR_06621576Y → C in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs780165694EnsemblClinVar.1
Natural variantiVAR_02097579A → V in MPS1H/S; reduction of activity and protein levels. 1 PublicationCorresponds to variant dbSNP:rs747981483EnsemblClinVar.1
Natural variantiVAR_00335382H → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs794727239EnsemblClinVar.1
Natural variantiVAR_02097682H → Q Reduction of protein levels. 1 PublicationCorresponds to variant dbSNP:rs148775298EnsemblClinVar.1
Natural variantiVAR_06621684G → R in MPS1H/S. 1 Publication1
Natural variantiVAR_00335489R → Q in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965029EnsemblClinVar.1
Natural variantiVAR_00335589R → W in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs754966840EnsemblClinVar.1
Natural variantiVAR_066217103T → P in MPS1H; uncertain pathological role. 1 Publication1
Natural variantiVAR_003356105R → Q3 PublicationsCorresponds to variant dbSNP:rs3755955EnsemblClinVar.1
Natural variantiVAR_003357116G → R. Corresponds to variant dbSNP:rs148946496EnsemblClinVar.1
Natural variantiVAR_020977133M → I in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs558683362EnsemblClinVar.1
Natural variantiVAR_066218178E → K in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs992336192Ensembl.1
Natural variantiVAR_020978182E → K in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs754154200Ensembl.1
Natural variantiVAR_066219188F → L in MPS1H/S; associated with R-423. 1 Publication1
Natural variantiVAR_020979208G → D in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1430681871EnsemblClinVar.1
Natural variantiVAR_003358218L → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs869025584EnsemblClinVar.1
Natural variantiVAR_066220219G → E in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs1230234600Ensembl.1
Natural variantiVAR_020980238L → Q in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs148789453EnsemblClinVar.1
Natural variantiVAR_020981260S → F in MPS1H/S. 1 Publication1
Natural variantiVAR_066221265G → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs369090960EnsemblClinVar.1
Natural variantiVAR_066222276E → K in MPS1H/S and MPS1S. 1 Publication1
Natural variantiVAR_003359279V → A. 1
Natural variantiVAR_017435300A → T in IDUA pseudodeficiency. 1 PublicationCorresponds to variant dbSNP:rs121965030EnsemblClinVar.1
Natural variantiVAR_066223306W → L in MPS1S. 1 Publication1
Natural variantiVAR_003360315D → Y in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Natural variantiVAR_003361327A → P in MPS1H; MPS1H/S. 5 PublicationsCorresponds to variant dbSNP:rs199801029EnsemblClinVar.1
Natural variantiVAR_017436346L → R in MPS1H/S; 0.4% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965033EnsemblClinVar.1
Natural variantiVAR_066224348N → K in MPS1S. 1 PublicationCorresponds to variant dbSNP:rs746766617EnsemblClinVar.1
Natural variantiVAR_003363349 – 350Missing in MPS1H. 1 Publication2
Natural variantiVAR_003362349D → N in MPS1H. Corresponds to variant dbSNP:rs368454909EnsemblClinVar.1
Natural variantiVAR_020982349D → Y in MPS1H. 1 Publication1
Natural variantiVAR_020983350N → I in MPS1S. 1 Publication1
Natural variantiVAR_003364361A → T4 PublicationsCorresponds to variant dbSNP:rs6831280EnsemblClinVar.1
Natural variantiVAR_020984363R → C in MPS1H/S; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs750496798EnsemblClinVar.1
Natural variantiVAR_003365366T → P in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs121965024EnsemblClinVar.1
Natural variantiVAR_003366380Q → R in MPS1H/S and MPS1S. 3 PublicationsCorresponds to variant dbSNP:rs762903007EnsemblClinVar.1
Natural variantiVAR_003367383R → H in MPS1S; 2-3% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs754949360EnsemblClinVar.1
Natural variantiVAR_066225385P → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs1553917309EnsemblClinVar.1
Natural variantiVAR_003368388T → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs794727896EnsemblClinVar.1
Natural variantiVAR_003369396L → LALL in MPS1H. 1
Natural variantiVAR_066226396L → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003370409G → R in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs11934801EnsemblClinVar.1
Natural variantiVAR_020985423S → R in MPS1S and MPS1H/S; associated with L-188 in a patient with MPS1H/S; significant reduction of activity and protein levels. 2 PublicationsCorresponds to variant dbSNP:rs931627770Ensembl.1
Natural variantiVAR_066227436A → P in MPS1H/S. 1 Publication1
Natural variantiVAR_003371445Missing in MPS1S. 1 Publication1
Natural variantiVAR_066228449H → N1 PublicationCorresponds to variant dbSNP:rs532731688EnsemblClinVar.1
Natural variantiVAR_003372454V → I3 PublicationsCorresponds to variant dbSNP:rs73066479EnsemblClinVar.1
Natural variantiVAR_003373489R → P in MPS1H. 1 Publication1
Natural variantiVAR_003374490L → P in MPS1H/S and MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965027EnsemblClinVar.1
Natural variantiVAR_003375492R → P in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965026EnsemblClinVar.1
Natural variantiVAR_003376496P → L in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar.1
Natural variantiVAR_066229496P → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs772416503EnsemblClinVar.1
Natural variantiVAR_003377504M → T in MPS1H/S. 1 Publication1
Natural variantiVAR_003378533P → R in MPS1H and MPS1H/S; in 3% of the MPS1H patients; reduces catalytic activity and protein stability. 5 PublicationsCorresponds to variant dbSNP:rs121965021EnsemblClinVar.1
Natural variantiVAR_066230535L → F in MPS1H/S. 1 Publication1
Natural variantiVAR_066231591A → T1 PublicationCorresponds to variant dbSNP:rs398123257EnsemblClinVar.1
Natural variantiVAR_020986602F → I in MPS1H/S; reduction of activity and protein levels. 1 Publication1
Natural variantiVAR_017437619R → G in MPS1H/S; 1.5% of normal activity. 1 PublicationCorresponds to variant dbSNP:rs121965031EnsemblClinVar.1
Natural variantiVAR_072368620V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Natural variantiVAR_003379626W → R in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs1281475543Ensembl.1
Natural variantiVAR_020987628R → P in MPS1H/S. 1 PublicationCorresponds to variant dbSNP:rs200448421Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_05702953 – 100CPPLP…LVTTR → W in isoform 2. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_057030265 – 324GARSS…AMVVK → VRPAPPSAPVFCALSRCAPG RADPGGAEAAPPAGCAQLHL HPGAGEGRRAADPAALPQVR GHPHLQRRGGPAGGLVPATA VEGGRDLRGHGGEGGPAQRP ARPPATFLPRRDRRAVAAPP GPSCPGHPQ in isoform 2. 1 PublicationAdd BLAST60

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
M74715 mRNA Translation: AAA81589.1
M95740, M95739 Genomic DNA Translation: AAA51698.1
AK125223 mRNA Translation: BAG54168.1
AC019103 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3343.1 [P35475-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S53645

NCBI Reference Sequences

More...RefSeqi		NP_000194.2, NM_000203.4 [P35475-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000247933; ENSP00000247933; ENSG00000127415 [P35475-1]
ENST00000514224; ENSP00000425081; ENSG00000127415 [P35475-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3425

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3425

UCSC genome browser

More...UCSCi		uc003gby.5, human [P35475-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
M74715 mRNA Translation: AAA81589.1
M95740, M95739 Genomic DNA Translation: AAA51698.1
AK125223 mRNA Translation: BAG54168.1
AC019103 Genomic DNA No translation available.
CCDSiCCDS3343.1 [P35475-1]
PIRiS53645
RefSeqiNP_000194.2, NM_000203.4 [P35475-1]

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
1Y24model-A36-522[»]
3W81X-ray2.30A/B27-653[»]
3W82X-ray2.76A/B27-653[»]
4KGJX-ray2.99A/B27-653[»]
4KGLX-ray2.70A/B27-653[»]
4KH2X-ray2.36A/B27-653[»]
4MJ2X-ray2.10A/B1-653[»]
4MJ4X-ray2.17A1-653[»]
4OBRX-ray2.46A/B27-653[»]
4OBSX-ray2.26A27-653[»]
6I6RX-ray2.02A/B27-653[»]
6I6XX-ray2.39A/B27-653[»]
SMRiP35475
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109651, 5 interactors
IntActiP35475, 2 interactors
STRINGi9606.ENSP00000247933

Chemistry databases

DrugBankiDB09301, Chondroitin sulfate

Protein family/group databases

CAZyiGH39, Glycoside Hydrolase Family 39

PTM databases

GlyConnecti1006, 5 N-Linked glycans (2 sites)
GlyGeniP35475, 6 sites
iPTMnetiP35475
PhosphoSitePlusiP35475

Genetic variation databases

BioMutaiIDUA
DMDMi92090608

Proteomic databases

EPDiP35475
jPOSTiP35475
MassIVEiP35475
MaxQBiP35475
PaxDbiP35475
PeptideAtlasiP35475
PRIDEiP35475
ProteomicsDBi3793
55068 [P35475-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		43016, 214 antibodies

The DNASU plasmid repository

More...DNASUi		3425

Genome annotation databases

EnsembliENST00000247933; ENSP00000247933; ENSG00000127415 [P35475-1]
ENST00000514224; ENSP00000425081; ENSG00000127415 [P35475-1]
GeneIDi3425
KEGGihsa:3425
UCSCiuc003gby.5, human [P35475-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3425
DisGeNETi3425

GeneCards: human genes, protein and diseases

More...GeneCardsi		IDUA
GeneReviewsiIDUA
HGNCiHGNC:5391, IDUA
HPAiENSG00000127415, Low tissue specificity
MalaCardsiIDUA
MIMi252800, gene
607014, phenotype
607015, phenotype
607016, phenotype
neXtProtiNX_P35475
OpenTargetsiENSG00000127415
Orphaneti93473, Hurler syndrome
93476, Hurler-Scheie syndrome
93474, Scheie syndrome
PharmGKBiPA29638
VEuPathDBiHostDB:ENSG00000127415.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QRES, Eukaryota
GeneTreeiENSGT00390000015494
InParanoidiP35475
OMAiAHYTSGD
PhylomeDBiP35475
TreeFamiTF323228

Enzyme and pathway databases

BioCyciMetaCyc:HS05096-MONOMER
BRENDAi3.2.1.76, 2681
PathwayCommonsiP35475
ReactomeiR-HSA-2024096, HS-GAG degradation
R-HSA-2024101, CS/DS degradation
R-HSA-2206302, MPS I - Hurler syndrome
SABIO-RKiP35475

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3425, 3 hits in 990 CRISPR screens

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

More...ChiTaRSi		IDUA, human

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

More...GenomeRNAii		3425
PharosiP35475, Tbio

Protein Ontology

More...PROi		PR:P35475
RNActiP35475, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000127415, Expressed in right hemisphere of cerebellum and 161 other tissues
ExpressionAtlasiP35475, baseline and differential
GenevisibleiP35475, HS

Family and domain databases

Gene3Di2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR000514, Glyco_hydro_39
IPR017853, Glycoside_hydrolase_SF
IPR013783, Ig-like_fold
PfamiView protein in Pfam
PF01229, Glyco_hydro_39, 1 hit
PRINTSiPR00745, GLHYDRLASE39
SUPFAMiSSF51445, SSF51445, 1 hit
PROSITEiView protein in PROSITE
PS01027, GLYCOSYL_HYDROL_F39, 1 hit

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 nameiIDUA_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: P35475
Secondary accession number(s): B3KWK6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: April 4, 2006
Last modified: June 2, 2021
This is version 195 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, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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