Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

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

  • L-iduronidase activity Source: UniProtKB
  • signaling receptor binding Source: Ensembl

GO - Biological processi

  • chondroitin sulfate catabolic process Source: Reactome
  • dermatan sulfate catabolic process Source: UniProtKB
  • disaccharide metabolic process Source: ProtInc
  • glycosaminoglycan catabolic process Source: Reactome
  • heparin catabolic process Source: MGI

<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

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_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-L-iduronidase (EC:3.2.1.76)
<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:IDUA
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000127415.12

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

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

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

Keywords - Cellular componenti

Lysosome

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

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

Mucopolysaccharidosis 1H (MPS1H)15 Publications
The disease is caused by mutations 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.
See also OMIM:607014
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 Publication1
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 Publication1
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_072368620V → F in MPS1H; loss of function; undetectable enzyme activity. 1 Publication1
Mucopolysaccharidosis 1H/S (MPS1H/S)8 Publications
The disease is caused by mutations 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.
See also OMIM:607015
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 Publication1
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:rs369090960Ensembl.1
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_066226396L → P in MPS1H/S. 1 Publication1
Natural variantiVAR_066227436A → P in MPS1H/S. 1 Publication1
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_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 mutations 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.
See also OMIM:607016
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_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_003367383R → H in MPS1S; 2-3% of normal activity. 2 PublicationsCorresponds to variant dbSNP:rs754949360EnsemblClinVar.1
Natural variantiVAR_003371445Missing in MPS1S. 1 Publication1
Natural variantiVAR_003375492R → P in MPS1S. 2 PublicationsCorresponds to variant dbSNP:rs121965026EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, 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

Polymorphism and mutation 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.<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_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>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_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

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 human proteome resource

More...
ProteomicsDBi
55068

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1006

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 143 organ(s), highest expression level in right hemisphere of cerebellum

CleanEx database of gene expression profiles

More...
CleanExi
HS_IDUA

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
CAB025901
HPA046979
HPA054254

<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.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109651, 2 interactors

Protein interaction database and analysis system

More...
IntActi
P35475, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000247933

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P35475

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

More...
SMRi
P35475

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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
ENOG410IEET Eukaryota
ENOG410XWW3 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000015494

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007042

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG006121

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P35475

KEGG Orthology (KO)

More...
KOi
K01217

Identification of Orthologs from Complete Genome Data

More...
OMAi
IANESAF

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0N7H

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 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 5 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 'canonical' 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

Note: No experimental confirmation available.
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 5 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>
D6REB5D6REB5_HUMAN
Alpha-L-iduronidase
IDUA
521Annotation 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>
H0Y9B3H0Y9B3_HUMAN
Alpha-L-iduronidase
IDUA
232Annotation 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>
D6RBD5D6RBD5_HUMAN
Alpha-L-iduronidase
IDUA
176Annotation 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:rs148946496Ensembl.1
Natural variantiVAR_020977133M → I in MPS1H. 1 PublicationCorresponds to variant dbSNP:rs558683362EnsemblClinVar.1
Natural variantiVAR_066218178E → K in MPS1H/S. 1 Publication1
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 Publication1
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:rs369090960Ensembl.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 Publication1
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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.89560

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000247933; ENSP00000247933; 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, 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
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]
UniGeneiHs.89560

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[»]
ProteinModelPortaliP35475
SMRiP35475
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109651, 2 interactors
IntActiP35475, 1 interactor
STRINGi9606.ENSP00000247933

Protein family/group databases

CAZyiGH39 Glycoside Hydrolase Family 39

PTM databases

GlyConnecti1006
iPTMnetiP35475
PhosphoSitePlusiP35475

Polymorphism and mutation databases

BioMutaiIDUA
DMDMi92090608

Proteomic databases

EPDiP35475
MaxQBiP35475
PaxDbiP35475
PeptideAtlasiP35475
PRIDEiP35475
ProteomicsDBi55068

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3425
DisGeNETi3425
EuPathDBiHostDB:ENSG00000127415.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IDUA
GeneReviewsiIDUA

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0200643
HGNCiHGNC:5391 IDUA
HPAiCAB025901
HPA046979
HPA054254
MalaCardsiIDUA
MIMi252800 gene
607014 phenotype
607015 phenotype
607016 phenotype
neXtProtiNX_P35475
OpenTargetsiENSG00000127415
Orphaneti93473 Hurler syndrome
93476 Hurler-Scheie syndrome
93474 Scheie syndrome
PharmGKBiPA29638

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IEET Eukaryota
ENOG410XWW3 LUCA
GeneTreeiENSGT00390000015494
HOGENOMiHOG000007042
HOVERGENiHBG006121
InParanoidiP35475
KOiK01217
OMAiIANESAF
OrthoDBiEOG091G0N7H
PhylomeDBiP35475
TreeFamiTF323228

Enzyme and pathway databases

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

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:P35475

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000127415 Expressed in 143 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_IDUA
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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_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: June 1, 1994
Last sequence update: April 4, 2006
Last modified: December 5, 2018
This is version 178 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, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  4. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again