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Protein

Beta-glucuronidase

Gene

GUSB

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

Plays an important role in the degradation of dermatan and keratan sulfates.

<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

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by L-aspartic acid.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei451Proton donor1

<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

  • beta-glucuronidase activity Source: GO_Central
  • carbohydrate binding Source: GO_Central
  • protein domain specific binding Source: AgBase
  • signaling receptor binding Source: AgBase

GO - Biological processi

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

Molecular functionGlycosidase, Hydrolase

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-2024096 HS-GAG degradation
R-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-2206292 MPS VII - Sly syndrome
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

Carbohydrate-Active enZymes

More...
CAZyi
GH2 Glycoside Hydrolase Family 2

<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:
Beta-glucuronidase (EC:3.2.1.31)
Alternative name(s):
Beta-G1
<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:GUSB
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000169919.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4696 GUSB

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611499 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P08236

<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 7 (MPS7)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive lysosomal storage disease characterized by inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.
See also OMIM:253220
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_05851130P → S in MPS7. Corresponds to variant dbSNP:rs747792546Ensembl.1
Natural variantiVAR_03791438C → G in MPS7; very mild phenotype. 1 Publication1
Natural variantiVAR_03791552S → F in MPS7; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs1424546265Ensembl.1
Natural variantiVAR_037916136G → R in MPS7. 1 PublicationCorresponds to variant dbSNP:rs1417426295Ensembl.1
Natural variantiVAR_037917148P → S in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918177EnsemblClinVar.1
Natural variantiVAR_037918150E → K in MPS7. 1 Publication1
Natural variantiVAR_058512152D → G in MPS7. 1
Natural variantiVAR_037920176L → F in MPS7. 4 PublicationsCorresponds to variant dbSNP:rs121918181EnsemblClinVar.1
Natural variantiVAR_003196216R → W in MPS7. 2 PublicationsCorresponds to variant dbSNP:rs121918174EnsemblClinVar.1
Natural variantiVAR_058513243L → P in MPS7. 1
Natural variantiVAR_037921320Y → C in MPS7. 1 Publication1
Natural variantiVAR_037922320Y → S in MPS7. 1 PublicationCorresponds to variant dbSNP:rs886044680EnsemblClinVar.1
Natural variantiVAR_058514339N → S in MPS7. 1
Natural variantiVAR_037923350K → N in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918182EnsemblClinVar.1
Natural variantiVAR_037924351H → Y in MPS7. 1 PublicationCorresponds to variant dbSNP:rs191153460Ensembl.1
Natural variantiVAR_003197354A → V in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918175EnsemblClinVar.1
Natural variantiVAR_058515361 – 369Missing in MPS7. 9
Natural variantiVAR_058516362D → N in MPS7. Corresponds to variant dbSNP:rs398123234EnsemblClinVar.1
Natural variantiVAR_058517364P → L in MPS7. Corresponds to variant dbSNP:rs771629102Ensembl.1
Natural variantiVAR_037925374R → C in MPS7. 1 PublicationCorresponds to variant dbSNP:rs747572640Ensembl.1
Natural variantiVAR_003198382R → C in MPS7. 2 PublicationsCorresponds to variant dbSNP:rs121918173EnsemblClinVar.1
Natural variantiVAR_037926382R → H in MPS7. 1 Publication1
Natural variantiVAR_037927408P → S in MPS7. 1 PublicationCorresponds to variant dbSNP:rs779091113Ensembl.1
Natural variantiVAR_037928415P → L in MPS7. 1 PublicationCorresponds to variant dbSNP:rs751025746Ensembl.1
Natural variantiVAR_037929435R → P in MPS7. 1 Publication1
Natural variantiVAR_037930477R → W in MPS7. 1 PublicationCorresponds to variant dbSNP:rs774393243Ensembl.1
Natural variantiVAR_037931495Y → C in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918178EnsemblClinVar.1
Natural variantiVAR_037932508Y → C in MPS7. 1 Publication1
Natural variantiVAR_058518540E → K in MPS7. 1
Natural variantiVAR_037933572G → D in MPS7. 1 Publication1
Natural variantiVAR_037934577R → L in MPS7; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121918183EnsemblClinVar.1
Natural variantiVAR_037935606K → N in MPS7. 1 Publication1
Natural variantiVAR_058519607G → A in MPS7. Corresponds to variant dbSNP:rs1250112198Ensembl.1
Natural variantiVAR_003199611R → W in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918176EnsemblClinVar.1
Natural variantiVAR_003200619A → V in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918172EnsemblClinVar.1
Natural variantiVAR_037936626Y → H in MPS7; very mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs777613366Ensembl.1
Natural variantiVAR_003201627W → C in MPS7. 2 PublicationsCorresponds to variant dbSNP:rs121918184EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
2990

MalaCards human disease database

More...
MalaCardsi
GUSB
MIMi253220 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000169919

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

More...
Orphaneti
584 Mucopolysaccharidosis type 7

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29075

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2728

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GUSB

Domain mapping of disease mutations (DMDM)

More...
DMDMi
146345377

<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 – 221 PublicationAdd BLAST22
<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_000001216123 – 651Beta-glucuronidaseAdd BLAST629

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>Glycosylationi173N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi272N-linked (GlcNAc...) asparagine3 Publications1
Glycosylationi420N-linked (GlcNAc...) asparagine1
Glycosylationi631N-linked (GlcNAc...) asparagine1 Publication1

<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-linked glycosylated with 3 to 4 oligosaccharide chains.3 Publications

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P08236

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P08236

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

More...
PaxDbi
P08236

PeptideAtlas

More...
PeptideAtlasi
P08236

PRoteomics IDEntifications database

More...
PRIDEi
P08236

ProteomicsDB human proteome resource

More...
ProteomicsDBi
52092
52093 [P08236-2]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1037

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P08236

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

More...
PhosphoSitePlusi
P08236

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000169919 Expressed in 234 organ(s), highest expression level in endometrium epithelium

CleanEx database of gene expression profiles

More...
CleanExi
HS_GUSB

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P08236 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P08236 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036322
HPA036323

<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

Homotetramer.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
109245, 12 interactors

Database of interacting proteins

More...
DIPi
DIP-29724N

Protein interaction database and analysis system

More...
IntActi
P08236, 5 interactors

Molecular INTeraction database

More...
MINTi
P08236

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000302728

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
P08236

<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

1651
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
P08236

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

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SMRi
P08236

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P08236

<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

<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 2 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2024 Eukaryota
COG3250 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000001752

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000120896

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG004843

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P08236

KEGG Orthology (KO)

More...
KOi
K01195

Identification of Orthologs from Complete Genome Data

More...
OMAi
QRWTQDL

Database of Orthologous Groups

More...
OrthoDBi
EOG091G02MO

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P08236

TreeFam database of animal gene trees

More...
TreeFami
TF300685

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.120.260, 1 hit
2.60.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036156 Beta-gal/glucu_dom_sf
IPR008979 Galactose-bd-like_sf
IPR006101 Glyco_hydro_2
IPR023232 Glyco_hydro_2_AS
IPR006103 Glyco_hydro_2_cat
IPR023230 Glyco_hydro_2_CS
IPR006102 Glyco_hydro_2_Ig-like
IPR006104 Glyco_hydro_2_N
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00703 Glyco_hydro_2, 1 hit
PF02836 Glyco_hydro_2_C, 1 hit
PF02837 Glyco_hydro_2_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00132 GLHYDRLASE2

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49303 SSF49303, 1 hit
SSF49785 SSF49785, 1 hit
SSF51445 SSF51445, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00719 GLYCOSYL_HYDROL_F2_1, 1 hit
PS00608 GLYCOSYL_HYDROL_F2_2, 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 (3+)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 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P08236-1) [UniParc]FASTAAdd to basket
Also known as: Long

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
MARGSAVAWA ALGPLLWGCA LGLQGGMLYP QESPSRECKE LDGLWSFRAD
60 70 80 90 100
FSDNRRRGFE EQWYRRPLWE SGPTVDMPVP SSFNDISQDW RLRHFVGWVW
110 120 130 140 150
YEREVILPER WTQDLRTRVV LRIGSAHSYA IVWVNGVDTL EHEGGYLPFE
160 170 180 190 200
ADISNLVQVG PLPSRLRITI AINNTLTPTT LPPGTIQYLT DTSKYPKGYF
210 220 230 240 250
VQNTYFDFFN YAGLQRSVLL YTTPTTYIDD ITVTTSVEQD SGLVNYQISV
260 270 280 290 300
KGSNLFKLEV RLLDAENKVV ANGTGTQGQL KVPGVSLWWP YLMHERPAYL
310 320 330 340 350
YSLEVQLTAQ TSLGPVSDFY TLPVGIRTVA VTKSQFLING KPFYFHGVNK
360 370 380 390 400
HEDADIRGKG FDWPLLVKDF NLLRWLGANA FRTSHYPYAE EVMQMCDRYG
410 420 430 440 450
IVVIDECPGV GLALPQFFNN VSLHHHMQVM EEVVRRDKNH PAVVMWSVAN
460 470 480 490 500
EPASHLESAG YYLKMVIAHT KSLDPSRPVT FVSNSNYAAD KGAPYVDVIC
510 520 530 540 550
LNSYYSWYHD YGHLELIQLQ LATQFENWYK KYQKPIIQSE YGAETIAGFH
560 570 580 590 600
QDPPLMFTEE YQKSLLEQYH LGLDQKRRKY VVGELIWNFA DFMTEQSPTR
610 620 630 640 650
VLGNKKGIFT RQRQPKSAAF LLRERYWKIA NETRYPHSVA KSQCLENSLF

T
Length:651
Mass (Da):74,732
Last modified:May 1, 2007 - 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:i6BA7B1D935C9ABBD
GO
Isoform 2 (identifier: P08236-2) [UniParc]FASTAAdd to basket
Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     305-355: Missing.

Show »
Length:600
Mass (Da):69,142
Checksum:i8101B66EA73520F8
GO
Isoform 3 (identifier: P08236-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     159-304: Missing.

Note: No experimental confirmation available.
Show »
Length:505
Mass (Da):58,345
Checksum:iDF74B0D5E57A9F70
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
F8WBK6F8WBK6_HUMAN
Beta-glucuronidase
GUSB
134Annotation 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>
F2Z3L6F2Z3L6_HUMAN
Beta-glucuronidase
GUSB
144Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05851130P → S in MPS7. Corresponds to variant dbSNP:rs747792546Ensembl.1
Natural variantiVAR_03791438C → G in MPS7; very mild phenotype. 1 Publication1
Natural variantiVAR_03791552S → F in MPS7; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs1424546265Ensembl.1
Natural variantiVAR_037916136G → R in MPS7. 1 PublicationCorresponds to variant dbSNP:rs1417426295Ensembl.1
Natural variantiVAR_037917148P → S in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918177EnsemblClinVar.1
Natural variantiVAR_037918150E → K in MPS7. 1 Publication1
Natural variantiVAR_058512152D → G in MPS7. 1
Natural variantiVAR_037919152D → N Functional polymorphism with no clinical consequences; reduced activity levels. 2 PublicationsCorresponds to variant dbSNP:rs149606212EnsemblClinVar.1
Natural variantiVAR_037920176L → F in MPS7. 4 PublicationsCorresponds to variant dbSNP:rs121918181EnsemblClinVar.1
Natural variantiVAR_003196216R → W in MPS7. 2 PublicationsCorresponds to variant dbSNP:rs121918174EnsemblClinVar.1
Natural variantiVAR_058513243L → P in MPS7. 1
Natural variantiVAR_037921320Y → C in MPS7. 1 Publication1
Natural variantiVAR_037922320Y → S in MPS7. 1 PublicationCorresponds to variant dbSNP:rs886044680EnsemblClinVar.1
Natural variantiVAR_058514339N → S in MPS7. 1
Natural variantiVAR_037923350K → N in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918182EnsemblClinVar.1
Natural variantiVAR_037924351H → Y in MPS7. 1 PublicationCorresponds to variant dbSNP:rs191153460Ensembl.1
Natural variantiVAR_003197354A → V in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918175EnsemblClinVar.1
Natural variantiVAR_058515361 – 369Missing in MPS7. 9
Natural variantiVAR_058516362D → N in MPS7. Corresponds to variant dbSNP:rs398123234EnsemblClinVar.1
Natural variantiVAR_058517364P → L in MPS7. Corresponds to variant dbSNP:rs771629102Ensembl.1
Natural variantiVAR_037925374R → C in MPS7. 1 PublicationCorresponds to variant dbSNP:rs747572640Ensembl.1
Natural variantiVAR_055884376L → F. Corresponds to variant dbSNP:rs11559283Ensembl.1
Natural variantiVAR_003198382R → C in MPS7. 2 PublicationsCorresponds to variant dbSNP:rs121918173EnsemblClinVar.1
Natural variantiVAR_037926382R → H in MPS7. 1 Publication1
Natural variantiVAR_037927408P → S in MPS7. 1 PublicationCorresponds to variant dbSNP:rs779091113Ensembl.1
Natural variantiVAR_037928415P → L in MPS7. 1 PublicationCorresponds to variant dbSNP:rs751025746Ensembl.1
Natural variantiVAR_037929435R → P in MPS7. 1 Publication1
Natural variantiVAR_037930477R → W in MPS7. 1 PublicationCorresponds to variant dbSNP:rs774393243Ensembl.1
Natural variantiVAR_037931495Y → C in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918178EnsemblClinVar.1
Natural variantiVAR_037932508Y → C in MPS7. 1 Publication1
Natural variantiVAR_058518540E → K in MPS7. 1
Natural variantiVAR_037933572G → D in MPS7. 1 Publication1
Natural variantiVAR_037934577R → L in MPS7; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs121918183EnsemblClinVar.1
Natural variantiVAR_037935606K → N in MPS7. 1 Publication1
Natural variantiVAR_058519607G → A in MPS7. Corresponds to variant dbSNP:rs1250112198Ensembl.1
Natural variantiVAR_003199611R → W in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918176EnsemblClinVar.1
Natural variantiVAR_003200619A → V in MPS7. 1 PublicationCorresponds to variant dbSNP:rs121918172EnsemblClinVar.1
Natural variantiVAR_037936626Y → H in MPS7; very mild phenotype. 1 PublicationCorresponds to variant dbSNP:rs777613366Ensembl.1
Natural variantiVAR_003201627W → C in MPS7. 2 PublicationsCorresponds to variant dbSNP:rs121918184EnsemblClinVar.1
Natural variantiVAR_016179649L → P3 PublicationsCorresponds to variant dbSNP:rs9530EnsemblClinVar.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_054830159 – 304Missing in isoform 3. 1 PublicationAdd BLAST146
Alternative sequenceiVSP_001799305 – 355Missing in isoform 2. CuratedAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M15182 mRNA Translation: AAA52561.1
AK303819 mRNA Translation: BAG64768.1
AK223406 mRNA Translation: BAD97126.1
AC073261 Genomic DNA Translation: AAQ96851.1
CH236961 Genomic DNA Translation: EAL23740.1
CH471140 Genomic DNA Translation: EAX07951.1
BC014142 mRNA Translation: AAH14142.1
M65002 Genomic DNA Translation: AAA52622.1
M10618 mRNA Translation: AAA52621.1
S72462 Genomic DNA Translation: AAD14101.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5530.1 [P08236-1]
CCDS64665.1 [P08236-3]

Protein sequence database of the Protein Information Resource

More...
PIRi
A26581

NCBI Reference Sequences

More...
RefSeqi
NP_000172.2, NM_000181.3 [P08236-1]
NP_001271219.1, NM_001284290.1 [P08236-3]
NP_001280033.1, NM_001293104.1
NP_001280034.1, NM_001293105.1
XP_005250354.1, XM_005250297.3 [P08236-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.255230

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000304895; ENSP00000302728; ENSG00000169919 [P08236-1]
ENST00000421103; ENSP00000391390; ENSG00000169919 [P08236-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
2990

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2990

UCSC genome browser

More...
UCSCi
uc003tun.4 human [P08236-1]

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
M15182 mRNA Translation: AAA52561.1
AK303819 mRNA Translation: BAG64768.1
AK223406 mRNA Translation: BAD97126.1
AC073261 Genomic DNA Translation: AAQ96851.1
CH236961 Genomic DNA Translation: EAL23740.1
CH471140 Genomic DNA Translation: EAX07951.1
BC014142 mRNA Translation: AAH14142.1
M65002 Genomic DNA Translation: AAA52622.1
M10618 mRNA Translation: AAA52621.1
S72462 Genomic DNA Translation: AAD14101.1
CCDSiCCDS5530.1 [P08236-1]
CCDS64665.1 [P08236-3]
PIRiA26581
RefSeqiNP_000172.2, NM_000181.3 [P08236-1]
NP_001271219.1, NM_001284290.1 [P08236-3]
NP_001280033.1, NM_001293104.1
NP_001280034.1, NM_001293105.1
XP_005250354.1, XM_005250297.3 [P08236-2]
UniGeneiHs.255230

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BHGX-ray2.53A/B21-633[»]
3HN3X-ray1.70A/B/D/E21-633[»]
ProteinModelPortaliP08236
SMRiP08236
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109245, 12 interactors
DIPiDIP-29724N
IntActiP08236, 5 interactors
MINTiP08236
STRINGi9606.ENSP00000302728

Chemistry databases

BindingDBiP08236
ChEMBLiCHEMBL2728

Protein family/group databases

CAZyiGH2 Glycoside Hydrolase Family 2

PTM databases

GlyConnecti1037
iPTMnetiP08236
PhosphoSitePlusiP08236

Polymorphism and mutation databases

BioMutaiGUSB
DMDMi146345377

Proteomic databases

EPDiP08236
MaxQBiP08236
PaxDbiP08236
PeptideAtlasiP08236
PRIDEiP08236
ProteomicsDBi52092
52093 [P08236-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2990
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304895; ENSP00000302728; ENSG00000169919 [P08236-1]
ENST00000421103; ENSP00000391390; ENSG00000169919 [P08236-3]
GeneIDi2990
KEGGihsa:2990
UCSCiuc003tun.4 human [P08236-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2990
DisGeNETi2990
EuPathDBiHostDB:ENSG00000169919.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GUSB

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0057492
HGNCiHGNC:4696 GUSB
HPAiHPA036322
HPA036323
MalaCardsiGUSB
MIMi253220 phenotype
611499 gene
neXtProtiNX_P08236
OpenTargetsiENSG00000169919
Orphaneti584 Mucopolysaccharidosis type 7
PharmGKBiPA29075

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2024 Eukaryota
COG3250 LUCA
GeneTreeiENSGT00390000001752
HOGENOMiHOG000120896
HOVERGENiHBG004843
InParanoidiP08236
KOiK01195
OMAiQRWTQDL
OrthoDBiEOG091G02MO
PhylomeDBiP08236
TreeFamiTF300685

Enzyme and pathway databases

ReactomeiR-HSA-2024096 HS-GAG degradation
R-HSA-2160916 Hyaluronan uptake and degradation
R-HSA-2206292 MPS VII - Sly syndrome
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

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

More...
ChiTaRSi
GUSB human
EvolutionaryTraceiP08236

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GUSB

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

More...
GenomeRNAii
2990

Protein Ontology

More...
PROi
PR:P08236

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000169919 Expressed in 234 organ(s), highest expression level in endometrium epithelium
CleanExiHS_GUSB
ExpressionAtlasiP08236 baseline and differential
GenevisibleiP08236 HS

Family and domain databases

Gene3Di2.60.120.260, 1 hit
2.60.40.10, 1 hit
InterProiView protein in InterPro
IPR036156 Beta-gal/glucu_dom_sf
IPR008979 Galactose-bd-like_sf
IPR006101 Glyco_hydro_2
IPR023232 Glyco_hydro_2_AS
IPR006103 Glyco_hydro_2_cat
IPR023230 Glyco_hydro_2_CS
IPR006102 Glyco_hydro_2_Ig-like
IPR006104 Glyco_hydro_2_N
IPR017853 Glycoside_hydrolase_SF
IPR013783 Ig-like_fold
PfamiView protein in Pfam
PF00703 Glyco_hydro_2, 1 hit
PF02836 Glyco_hydro_2_C, 1 hit
PF02837 Glyco_hydro_2_N, 1 hit
PRINTSiPR00132 GLHYDRLASE2
SUPFAMiSSF49303 SSF49303, 1 hit
SSF49785 SSF49785, 1 hit
SSF51445 SSF51445, 1 hit
PROSITEiView protein in PROSITE
PS00719 GLYCOSYL_HYDROL_F2_1, 1 hit
PS00608 GLYCOSYL_HYDROL_F2_2, 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 nameiBGLR_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: P08236
Secondary accession number(s): B4E1F6
, E9PCV0, Q549U0, Q96CL9
<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: August 1, 1988
Last sequence update: May 1, 2007
Last modified: December 5, 2018
This is version 202 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

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

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. 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
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