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Entry version 173 (13 Nov 2019)
Sequence version 1 (01 Oct 1996)
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Protein

N-sulphoglucosamine sulphohydrolase

Gene

SGSH

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

Catalyzes a step in lysosomal heparan sulfate degradation.3 Publications

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

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+1 PublicationNote: Binds 1 Ca2+ ion per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi31CalciumCombined sources1 Publication1
Metal bindingi32CalciumCombined sources1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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 sitei70Nucleophile1 Publication1
Metal bindingi70Calcium; via 3-oxoalanineCombined sources1 Publication1
Metal bindingi273CalciumCombined sources1 Publication1
Metal bindingi274CalciumCombined sources1 Publication1

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

GO - Biological processi

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

Molecular functionHydrolase
LigandCalcium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.10.1.1 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2024096 HS-GAG degradation
R-HSA-2206307 MPS IIIA - Sanfilippo syndrome A

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
N-sulphoglucosamine sulphohydrolase (EC:3.10.1.13 Publications)
Alternative name(s):
Sulfoglucosamine sulfamidase
Sulphamidase
<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:SGSH
Synonyms:HSS
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:10818 SGSH

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605270 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P51688

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

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

Keywords - Cellular componenti

Lysosome

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

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

Mucopolysaccharidosis 3A (MPS3A)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.
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_05467032D → E in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs139850991Ensembl.1
Natural variantiVAR_05467132D → G in MPS3A. 1 Publication1
Natural variantiVAR_00738840Y → N in MPS3A; intermediate. 1 Publication1
Natural variantiVAR_05467242N → K in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 Publication1
Natural variantiVAR_00738944A → T in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs1057521146EnsemblClinVar.1
Natural variantiVAR_00739066S → W in MPS3A; intermediate/severe; common mutation in Italy. 3 PublicationsCorresponds to variant dbSNP:rs104894637EnsemblClinVar.1
Natural variantiVAR_00739174R → C in MPS3A; intermediate/severe; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 6 PublicationsCorresponds to variant dbSNP:rs104894636EnsemblClinVar.1
Natural variantiVAR_00739274R → H in MPS3A. Corresponds to variant dbSNP:rs778336949EnsemblClinVar.1
Natural variantiVAR_00739379T → P in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs779703983EnsemblClinVar.1
Natural variantiVAR_00739484 – 85Missing in MPS3A. 2
Natural variantiVAR_05467384H → Y in MPS3A. 1 Publication1
Natural variantiVAR_00739585Q → R in MPS3A. 1 Publication1
Natural variantiVAR_05467488M → T in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1299601360Ensembl.1
Natural variantiVAR_00739690G → R in MPS3A. Corresponds to variant dbSNP:rs774010006EnsemblClinVar.1
Natural variantiVAR_054675106S → R in MPS3A; shows 3.3% activity of the expressed wild-type enzyme; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication1
Natural variantiVAR_007397122G → R in MPS3A; intermediate. 2 PublicationsCorresponds to variant dbSNP:rs761607612EnsemblClinVar.1
Natural variantiVAR_007398128P → L in MPS3A; intermediate. 2 PublicationsCorresponds to variant dbSNP:rs104894642EnsemblClinVar.1
Natural variantiVAR_007399131V → M in MPS3A. Corresponds to variant dbSNP:rs370636303Ensembl.1
Natural variantiVAR_007400139T → M in MPS3A. Corresponds to variant dbSNP:rs775112689EnsemblClinVar.1
Natural variantiVAR_007401146L → P in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs749358773EnsemblClinVar.1
Natural variantiVAR_007402150R → Q in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs104894638EnsemblClinVar.1
Natural variantiVAR_054676150R → W in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1479831530Ensembl.1
Natural variantiVAR_054677163L → P in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the mutant protein shows instability in the lysosomes. 1 Publication1
Natural variantiVAR_007403179D → N in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs774773010Ensembl.1
Natural variantiVAR_007404182R → C in MPS3A; intermediate. 1 PublicationCorresponds to variant dbSNP:rs529855742EnsemblClinVar.1
Natural variantiVAR_054678191G → R in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs753666460EnsemblClinVar.1
Natural variantiVAR_007405193F → L in MPS3A. 1
Natural variantiVAR_007406206R → P in MPS3A; the mutant enzyme retains 8% residual activity. 2 PublicationsCorresponds to variant dbSNP:rs104894643EnsemblClinVar.1
Natural variantiVAR_007408227P → R in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs774602372Ensembl.1
Natural variantiVAR_007409234A → G in MPS3A. Corresponds to variant dbSNP:rs113641837EnsemblClinVar.1
Natural variantiVAR_054679235D → N in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 PublicationsCorresponds to variant dbSNP:rs753472891EnsemblClinVar.1
Natural variantiVAR_007410235D → V in MPS3A. Corresponds to variant dbSNP:rs763800418Ensembl.1
Natural variantiVAR_007411245R → H in MPS3A; severe; common mutation in Western Europe and Australia. 3 PublicationsCorresponds to variant dbSNP:rs104894635EnsemblClinVar.1
Natural variantiVAR_054680251G → A in MPS3A. 2 PublicationsCorresponds to variant dbSNP:rs144461610Ensembl.1
Natural variantiVAR_054681273D → N in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1046551417EnsemblClinVar.1
Natural variantiVAR_054682288P → S in MPS3A. 1 Publication1
Natural variantiVAR_054683293P → S in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 PublicationCorresponds to variant dbSNP:rs143947056EnsemblClinVar.1
Natural variantiVAR_054684293P → T in MPS3A. 1 Publication1
Natural variantiVAR_007412298S → P in MPS3A; associated with a slowly progressive clinical phenotype; rapidly degraded but small amounts of the mutant protein are correctly transported to the lysosome; low but significant residual enzymatic activity. 3 PublicationsCorresponds to variant dbSNP:rs138504221EnsemblClinVar.1
Natural variantiVAR_054685300E → V in MPS3A. 1 Publication1
Natural variantiVAR_054687307Q → P in MPS3A. 1 Publication1
Natural variantiVAR_007413321T → A in MPS3A. Corresponds to variant dbSNP:rs758756630EnsemblClinVar.1
Natural variantiVAR_054688322I → S in MPS3A. 1 Publication1
Natural variantiVAR_007414354A → P in MPS3A. 1 Publication1
Natural variantiVAR_054689355E → K in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs766938111EnsemblClinVar.1
Natural variantiVAR_007416364S → R in MPS3A. 1
Natural variantiVAR_079426365 – 502Missing in MPS3A. 1 PublicationAdd BLAST138
Natural variantiVAR_007417369E → K in MPS3A; intermediate. 2 PublicationsCorresponds to variant dbSNP:rs104894640EnsemblClinVar.1
Natural variantiVAR_054690374Y → H in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1237611456Ensembl.1
Natural variantiVAR_007418377R → C in MPS3A; severe; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 PublicationsCorresponds to variant dbSNP:rs772311757EnsemblClinVar.1
Natural variantiVAR_007419377R → H in MPS3A. Corresponds to variant dbSNP:rs746037899Ensembl.1
Natural variantiVAR_007420380Q → R in MPS3A. Corresponds to variant dbSNP:rs144143780EnsemblClinVar.1
Natural variantiVAR_054691381H → HQR in MPS3A. 1
Natural variantiVAR_007421386L → R in MPS3A. 1 Publication1
Natural variantiVAR_007422389N → K in MPS3A. Corresponds to variant dbSNP:rs764057581EnsemblClinVar.1
Natural variantiVAR_054693403Missing in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication1
Natural variantiVAR_054694432 – 435YRAR → W in MPS3A. 4
Natural variantiVAR_054695433R → Q in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs104894641EnsemblClinVar.1
Natural variantiVAR_054696433R → W in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs777267343EnsemblClinVar.1
Natural variantiVAR_054697436 – 438Missing in MPS3A. 1 Publication3
Natural variantiVAR_007423447E → K in MPS3A. Corresponds to variant dbSNP:rs104894639EnsemblClinVar.1
Natural variantiVAR_079427477D → N in MPS3A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064795109EnsemblClinVar.1
Natural variantiVAR_054698486V → F in MPS3A. 1 Publication1

Keywords - Diseasei

Disease mutation, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

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DisGeNETi
6448

MalaCards human disease database

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MalaCardsi
SGSH
MIMi252900 phenotype

Open Targets

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OpenTargetsi
ENSG00000181523

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

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Orphaneti
79269 Sanfilippo syndrome type A

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35726

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P51688

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SGSH

<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 – 201 PublicationAdd BLAST20
<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_000003343321 – 502N-sulphoglucosamine sulphohydrolaseAdd BLAST482

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>Glycosylationi41N-linked (GlcNAc...) asparagineCombined sources3 Publications1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei703-oxoalanine (Cys)1 Publication1
Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi151N-linked (GlcNAc...) asparagineCombined sources1 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 bondi183 ↔ 194Combined sources1 Publication
Glycosylationi264N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Glycosylationi413N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Disulfide bondi481 ↔ 495Combined sources1 Publication

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

The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P51688

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P51688

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P51688

MaxQB - The MaxQuant DataBase

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MaxQBi
P51688

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

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PaxDbi
P51688

PeptideAtlas

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PeptideAtlasi
P51688

PRoteomics IDEntifications database

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PRIDEi
P51688

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
56373

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1576

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P51688

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

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PhosphoSitePlusi
P51688

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000181523 Expressed in 212 organ(s), highest expression level in left adrenal gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P51688 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P51688 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA023436
HPA023451

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112346, 17 interactors

Protein interaction database and analysis system

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IntActi
P51688, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000314606

<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

1502
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
P51688

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi26 – 29Poly-Leu4

<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 sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3867 Eukaryota
COG3119 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000013080

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000234731

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P51688

KEGG Orthology (KO)

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KOi
K01565

Identification of Orthologs from Complete Genome Data

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OMAi
YQRPEWE

Database of Orthologous Groups

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OrthoDBi
464888at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P51688

TreeFam database of animal gene trees

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TreeFami
TF323156

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.40.720.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR017850 Alkaline_phosphatase_core_sf
IPR032506 DUF4976
IPR024607 Sulfatase_CS
IPR000917 Sulfatase_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF16347 DUF4976, 1 hit
PF00884 Sulfatase, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF53649 SSF53649, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00523 SULFATASE_1, 1 hit
PS00149 SULFATASE_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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

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

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

P51688-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSCPVPACCA LLLVLGLCRA RPRNALLLLA DDGGFESGAY NNSAIATPHL
60 70 80 90 100
DALARRSLLF RNAFTSVSSC SPSRASLLTG LPQHQNGMYG LHQDVHHFNS
110 120 130 140 150
FDKVRSLPLL LSQAGVRTGI IGKKHVGPET VYPFDFAYTE ENGSVLQVGR
160 170 180 190 200
NITRIKLLVR KFLQTQDDRP FFLYVAFHDP HRCGHSQPQY GTFCEKFGNG
210 220 230 240 250
ESGMGRIPDW TPQAYDPLDV LVPYFVPNTP AARADLAAQY TTVGRMDQGV
260 270 280 290 300
GLVLQELRDA GVLNDTLVIF TSDNGIPFPS GRTNLYWPGT AEPLLVSSPE
310 320 330 340 350
HPKRWGQVSE AYVSLLDLTP TILDWFSIPY PSYAIFGSKT IHLTGRSLLP
360 370 380 390 400
ALEAEPLWAT VFGSQSHHEV TMSYPMRSVQ HRHFRLVHNL NFKMPFPIDQ
410 420 430 440 450
DFYVSPTFQD LLNRTTAGQP TGWYKDLRHY YYRARWELYD RSRDPHETQN
460 470 480 490 500
LATDPRFAQL LEMLRDQLAK WQWETHDPWV CAPDGVLEEK LSPQCQPLHN

EL
Length:502
Mass (Da):56,695
Last modified:October 1, 1996 - v1
<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:i90C5CDAB4DCC3808
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L0M2I3L0M2_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
274Annotation 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>
I3L207I3L207_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
227Annotation 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>
I3L2L4I3L2L4_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
187Annotation 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>
I3L4C9I3L4C9_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
108Annotation 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>
I3L2I6I3L2I6_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
106Annotation 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>
I3L4B7I3L4B7_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
110Annotation 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>
I3L3T3I3L3T3_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
67Annotation 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>
I3NI22I3NI22_HUMAN
N-sulphoglucosamine sulphohydrolase
SGSH
194Annotation 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_05467032D → E in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs139850991Ensembl.1
Natural variantiVAR_05467132D → G in MPS3A. 1 Publication1
Natural variantiVAR_00738840Y → N in MPS3A; intermediate. 1 Publication1
Natural variantiVAR_05467242N → K in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 Publication1
Natural variantiVAR_00738944A → T in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs1057521146EnsemblClinVar.1
Natural variantiVAR_00739066S → W in MPS3A; intermediate/severe; common mutation in Italy. 3 PublicationsCorresponds to variant dbSNP:rs104894637EnsemblClinVar.1
Natural variantiVAR_00739174R → C in MPS3A; intermediate/severe; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 6 PublicationsCorresponds to variant dbSNP:rs104894636EnsemblClinVar.1
Natural variantiVAR_00739274R → H in MPS3A. Corresponds to variant dbSNP:rs778336949EnsemblClinVar.1
Natural variantiVAR_00739379T → P in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs779703983EnsemblClinVar.1
Natural variantiVAR_00739484 – 85Missing in MPS3A. 2
Natural variantiVAR_05467384H → Y in MPS3A. 1 Publication1
Natural variantiVAR_00739585Q → R in MPS3A. 1 Publication1
Natural variantiVAR_05467488M → T in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1299601360Ensembl.1
Natural variantiVAR_00739690G → R in MPS3A. Corresponds to variant dbSNP:rs774010006EnsemblClinVar.1
Natural variantiVAR_054675106S → R in MPS3A; shows 3.3% activity of the expressed wild-type enzyme; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication1
Natural variantiVAR_007397122G → R in MPS3A; intermediate. 2 PublicationsCorresponds to variant dbSNP:rs761607612EnsemblClinVar.1
Natural variantiVAR_007398128P → L in MPS3A; intermediate. 2 PublicationsCorresponds to variant dbSNP:rs104894642EnsemblClinVar.1
Natural variantiVAR_007399131V → M in MPS3A. Corresponds to variant dbSNP:rs370636303Ensembl.1
Natural variantiVAR_007400139T → M in MPS3A. Corresponds to variant dbSNP:rs775112689EnsemblClinVar.1
Natural variantiVAR_007401146L → P in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs749358773EnsemblClinVar.1
Natural variantiVAR_007402150R → Q in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs104894638EnsemblClinVar.1
Natural variantiVAR_054676150R → W in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1479831530Ensembl.1
Natural variantiVAR_054677163L → P in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the mutant protein shows instability in the lysosomes. 1 Publication1
Natural variantiVAR_007403179D → N in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs774773010Ensembl.1
Natural variantiVAR_007404182R → C in MPS3A; intermediate. 1 PublicationCorresponds to variant dbSNP:rs529855742EnsemblClinVar.1
Natural variantiVAR_054678191G → R in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 1 PublicationCorresponds to variant dbSNP:rs753666460EnsemblClinVar.1
Natural variantiVAR_007405193F → L in MPS3A. 1
Natural variantiVAR_007406206R → P in MPS3A; the mutant enzyme retains 8% residual activity. 2 PublicationsCorresponds to variant dbSNP:rs104894643EnsemblClinVar.1
Natural variantiVAR_007407226V → A1 Publication1
Natural variantiVAR_007408227P → R in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs774602372Ensembl.1
Natural variantiVAR_007409234A → G in MPS3A. Corresponds to variant dbSNP:rs113641837EnsemblClinVar.1
Natural variantiVAR_054679235D → N in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 PublicationsCorresponds to variant dbSNP:rs753472891EnsemblClinVar.1
Natural variantiVAR_007410235D → V in MPS3A. Corresponds to variant dbSNP:rs763800418Ensembl.1
Natural variantiVAR_007411245R → H in MPS3A; severe; common mutation in Western Europe and Australia. 3 PublicationsCorresponds to variant dbSNP:rs104894635EnsemblClinVar.1
Natural variantiVAR_054680251G → A in MPS3A. 2 PublicationsCorresponds to variant dbSNP:rs144461610Ensembl.1
Natural variantiVAR_054681273D → N in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1046551417EnsemblClinVar.1
Natural variantiVAR_054682288P → S in MPS3A. 1 Publication1
Natural variantiVAR_054683293P → S in MPS3A; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 1 PublicationCorresponds to variant dbSNP:rs143947056EnsemblClinVar.1
Natural variantiVAR_054684293P → T in MPS3A. 1 Publication1
Natural variantiVAR_007412298S → P in MPS3A; associated with a slowly progressive clinical phenotype; rapidly degraded but small amounts of the mutant protein are correctly transported to the lysosome; low but significant residual enzymatic activity. 3 PublicationsCorresponds to variant dbSNP:rs138504221EnsemblClinVar.1
Natural variantiVAR_054685300E → V in MPS3A. 1 Publication1
Natural variantiVAR_054686304R → L1 PublicationCorresponds to variant dbSNP:rs745884647EnsemblClinVar.1
Natural variantiVAR_054687307Q → P in MPS3A. 1 Publication1
Natural variantiVAR_007413321T → A in MPS3A. Corresponds to variant dbSNP:rs758756630EnsemblClinVar.1
Natural variantiVAR_054688322I → S in MPS3A. 1 Publication1
Natural variantiVAR_007414354A → P in MPS3A. 1 Publication1
Natural variantiVAR_054689355E → K in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs766938111EnsemblClinVar.1
Natural variantiVAR_007415361V → I. Corresponds to variant dbSNP:rs9894254EnsemblClinVar.1
Natural variantiVAR_007416364S → R in MPS3A. 1
Natural variantiVAR_079426365 – 502Missing in MPS3A. 1 PublicationAdd BLAST138
Natural variantiVAR_007417369E → K in MPS3A; intermediate. 2 PublicationsCorresponds to variant dbSNP:rs104894640EnsemblClinVar.1
Natural variantiVAR_061884372M → I. Corresponds to variant dbSNP:rs58786455EnsemblClinVar.1
Natural variantiVAR_054690374Y → H in MPS3A. 1 PublicationCorresponds to variant dbSNP:rs1237611456Ensembl.1
Natural variantiVAR_007418377R → C in MPS3A; severe; does not yield active enzyme; the reduction in 62 kDa precursor and 56 kDa mature forms suggests an increased degradation of the mutant enzyme. 2 PublicationsCorresponds to variant dbSNP:rs772311757EnsemblClinVar.1
Natural variantiVAR_007419377R → H in MPS3A. Corresponds to variant dbSNP:rs746037899Ensembl.1
Natural variantiVAR_007420380Q → R in MPS3A. Corresponds to variant dbSNP:rs144143780EnsemblClinVar.1
Natural variantiVAR_054691381H → HQR in MPS3A. 1
Natural variantiVAR_007421386L → R in MPS3A. 1 Publication1
Natural variantiVAR_054692387V → M1 PublicationCorresponds to variant dbSNP:rs62620232EnsemblClinVar.1
Natural variantiVAR_007422389N → K in MPS3A. Corresponds to variant dbSNP:rs764057581EnsemblClinVar.1
Natural variantiVAR_052517394M → I. Corresponds to variant dbSNP:rs34297805EnsemblClinVar.1
Natural variantiVAR_054693403Missing in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells. 1 Publication1
Natural variantiVAR_054694432 – 435YRAR → W in MPS3A. 4
Natural variantiVAR_054695433R → Q in MPS3A; severe. 1 PublicationCorresponds to variant dbSNP:rs104894641EnsemblClinVar.1
Natural variantiVAR_054696433R → W in MPS3A; the mutant is enzymatically inactive; rapid degradation rather than decrease in synthesis is responsible for the low steady state level of the mutant protein in cells; the majority of newly synthesized protein probably occurs in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs777267343EnsemblClinVar.1
Natural variantiVAR_054697436 – 438Missing in MPS3A. 1 Publication3
Natural variantiVAR_007423447E → K in MPS3A. Corresponds to variant dbSNP:rs104894639EnsemblClinVar.1
Natural variantiVAR_007424456R → H Does not affect enzyme activity; cells transfected with the mutant enzyme contain a 62 kDa precursor and a 56 kDa mature form as cells transfected with the wild-type enzyme. 6 PublicationsCorresponds to variant dbSNP:rs7503034EnsemblClinVar.1
Natural variantiVAR_079427477D → N in MPS3A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1064795109EnsemblClinVar.1
Natural variantiVAR_054698486V → F in MPS3A. 1 Publication1

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
U30894 mRNA Translation: AAA86530.1
U60111
, U60107, U60108, U60109, U60110 Genomic DNA Translation: AAB17952.1
AK291257 mRNA Translation: BAF83946.1
BC047318 mRNA Translation: AAH47318.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11770.1

NCBI Reference Sequences

More...
RefSeqi
NP_000190.1, NM_000199.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000326317; ENSP00000314606; ENSG00000181523

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6448

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6448

UCSC genome browser

More...
UCSCi
uc002jxz.5 human

Keywords - Coding sequence diversityi

Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U30894 mRNA Translation: AAA86530.1
U60111
, U60107, U60108, U60109, U60110 Genomic DNA Translation: AAB17952.1
AK291257 mRNA Translation: BAF83946.1
BC047318 mRNA Translation: AAH47318.1
CCDSiCCDS11770.1
RefSeqiNP_000190.1, NM_000199.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4MHXX-ray2.00A/B1-502[»]
4MIVX-ray2.40A/B/C/D/E/F/G/H1-502[»]
SMRiP51688
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi112346, 17 interactors
IntActiP51688, 4 interactors
STRINGi9606.ENSP00000314606

PTM databases

GlyConnecti1576
iPTMnetiP51688
PhosphoSitePlusiP51688

Polymorphism and mutation databases

BioMutaiSGSH

Proteomic databases

EPDiP51688
jPOSTiP51688
MassIVEiP51688
MaxQBiP51688
PaxDbiP51688
PeptideAtlasiP51688
PRIDEiP51688
ProteomicsDBi56373

Genome annotation databases

EnsembliENST00000326317; ENSP00000314606; ENSG00000181523
GeneIDi6448
KEGGihsa:6448
UCSCiuc002jxz.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6448
DisGeNETi6448

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SGSH
HGNCiHGNC:10818 SGSH
HPAiHPA023436
HPA023451
MalaCardsiSGSH
MIMi252900 phenotype
605270 gene
neXtProtiNX_P51688
OpenTargetsiENSG00000181523
Orphaneti79269 Sanfilippo syndrome type A
PharmGKBiPA35726

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3867 Eukaryota
COG3119 LUCA
GeneTreeiENSGT00390000013080
HOGENOMiHOG000234731
InParanoidiP51688
KOiK01565
OMAiYQRPEWE
OrthoDBi464888at2759
PhylomeDBiP51688
TreeFamiTF323156

Enzyme and pathway databases

BRENDAi3.10.1.1 2681
ReactomeiR-HSA-2024096 HS-GAG degradation
R-HSA-2206307 MPS IIIA - Sanfilippo syndrome A

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SGSH

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

More...
GenomeRNAii
6448
PharosiP51688

Protein Ontology

More...
PROi
PR:P51688

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000181523 Expressed in 212 organ(s), highest expression level in left adrenal gland
ExpressionAtlasiP51688 baseline and differential
GenevisibleiP51688 HS

Family and domain databases

Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017850 Alkaline_phosphatase_core_sf
IPR032506 DUF4976
IPR024607 Sulfatase_CS
IPR000917 Sulfatase_N
PfamiView protein in Pfam
PF16347 DUF4976, 1 hit
PF00884 Sulfatase, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit
PROSITEiView protein in PROSITE
PS00523 SULFATASE_1, 1 hit
PS00149 SULFATASE_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSPHM_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: P51688
Secondary accession number(s): A8K5E2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 13, 2019
This is version 173 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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
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