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Protein

N-acetylgalactosamine-6-sulfatase

Gene

GALNS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

  • Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.1 Publication EC:3.1.6.4

<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 ‘Function’ 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 bindingi39Calcium1 Publication1
Metal bindingi40Calcium1 Publication1
<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 sitei79Nucleophile1 Publication1
Metal bindingi79Calcium; via 3-oxoalanine1 Publication1
Active sitei142By similarity1
Metal bindingi288Calcium1 Publication1
Metal bindingi289Calcium1 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

  • metal ion binding Source: UniProtKB-KW
  • N-acetylgalactosamine-4-sulfatase activity Source: ProtInc
  • N-acetylgalactosamine-6-sulfatase activity Source: Reactome
  • sulfuric ester hydrolase activity Source: MGI

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

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS06790-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
3.1.6.4 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2022857 Keratan sulfate degradation
R-HSA-2206290 MPS IV - Morquio syndrome A
R-HSA-6798695 Neutrophil degranulation

<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-acetylgalactosamine-6-sulfatase (EC:3.1.6.4)
Alternative name(s):
Chondroitinsulfatase
Short name:
Chondroitinase
Galactose-6-sulfate sulfatase
Short name:
GalN6S
N-acetylgalactosamine-6-sulfate sulfatase
Short name:
GalNAc6S sulfatase
<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:GALNS
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000141012.12

Human Gene Nomenclature Database

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HGNCi
HGNC:4122 GALNS

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612222 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P34059

<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 4A (MPS4A)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.
See also OMIM:253000
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_02487315L → M in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs866745731Ensembl.1
Natural variantiVAR_07156916V → E in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs794729202EnsemblClinVar.1
Natural variantiVAR_02487417 – 18Missing in MPS4A. 1 Publication2
Natural variantiVAR_02487523G → R in MPS4A. 1 Publication1
Natural variantiVAR_02487636L → P in MPS4A. 1 Publication1
Natural variantiVAR_07157036L → R in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs755832705EnsemblClinVar.1
Natural variantiVAR_07157140D → N in MPS4A. 1 Publication1
Natural variantiVAR_02487741M → L in MPS4A. 1 Publication1
Natural variantiVAR_02487842G → E in MPS4A. 1 Publication1
Natural variantiVAR_00717247G → R in MPS4A; severe form. Corresponds to variant dbSNP:rs199638097EnsemblClinVar.1
Natural variantiVAR_07157248V → G in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs191519947Ensembl.1
Natural variantiVAR_07157351E → K in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_02487952 – 55Missing in MPS4A. 1 Publication4
Natural variantiVAR_02488053S → F in MPS4A. 1 Publication1
Natural variantiVAR_00717360D → N in MPS4A; mild form. Corresponds to variant dbSNP:rs118204447EnsemblClinVar.1
Natural variantiVAR_02488161R → W in MPS4A. 2 PublicationsCorresponds to variant dbSNP:rs145798311EnsemblClinVar.1
Natural variantiVAR_02488269F → V in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs118204445EnsemblClinVar.1
Natural variantiVAR_02488371 – 74NFYS → T in MPS4A. 1 Publication4
Natural variantiVAR_00717577P → R in MPS4A; severe form. 3 Publications1
Natural variantiVAR_02488479C → Y in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs1263679818Ensembl.1
Natural variantiVAR_00717780S → L in MPS4A; intermediate form. 2 Publications1
Natural variantiVAR_07157581P → L in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_07157684A → E in MPS4A; loss of enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs141340188Ensembl.1
Natural variantiVAR_00717890R → W in MPS4A; severe form. 3 PublicationsCorresponds to variant dbSNP:rs1028668536Ensembl.1
Natural variantiVAR_07157791L → P in MPS4A; loss of enzymatic activity. 1 Publication1
Natural variantiVAR_00717994R → C in MPS4A; mild/intermediate form. 3 Publications1
Natural variantiVAR_00718094R → G in MPS4A; mild/intermediate form. Corresponds to variant dbSNP:rs118204441EnsemblClinVar.1
Natural variantiVAR_02488594R → L in MPS4A. 2 Publications1
Natural variantiVAR_00718196G → C in MPS4A. 1
Natural variantiVAR_00718296G → V in MPS4A; severe form. 3 Publications1
Natural variantiVAR_00718397F → V in MPS4A; mild form. 2 Publications1
Natural variantiVAR_024886107A → T in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs763184657Ensembl.1
Natural variantiVAR_007184111Q → R in MPS4A; intermediate form. 1
Natural variantiVAR_007185113I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 3 PublicationsCorresponds to variant dbSNP:rs118204438EnsemblClinVar.1
Natural variantiVAR_024887116G → S in MPS4A. 2 Publications1
Natural variantiVAR_071578116G → V in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007186125P → L in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs746949976Ensembl.1
Natural variantiVAR_007187135S → R in MPS4A; severe form. 1 Publication1
Natural variantiVAR_007188138V → A in MPS4A; mild/severe/intermediate form. 1 PublicationCorresponds to variant dbSNP:rs118204436EnsemblClinVar.1
Natural variantiVAR_007189139G → S in MPS4A; severe form. 2 PublicationsCorresponds to variant dbSNP:rs146093755EnsemblClinVar.1
Natural variantiVAR_024888141W → C in MPS4A. 1 Publication1
Natural variantiVAR_007190141W → R in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs794727625EnsemblClinVar.1
Natural variantiVAR_071580145H → Y in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs577334837Ensembl.1
Natural variantiVAR_024889150H → Y in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs1168278189Ensembl.1
Natural variantiVAR_007191151P → L in MPS4A; severe form. 4 PublicationsCorresponds to variant dbSNP:rs559063128Ensembl.1
Natural variantiVAR_007192151P → S in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024890155G → E in MPS4A. 1 Publication1
Natural variantiVAR_007193155G → R in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs398123438EnsemblClinVar.1
Natural variantiVAR_007194156F → C in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs1301146300Ensembl.1
Natural variantiVAR_071581156F → L in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007195156F → S in MPS4A; mild form. 1
Natural variantiVAR_024891162S → F in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs118204444EnsemblClinVar.1
Natural variantiVAR_024892164N → T in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs761725425Ensembl.1
Natural variantiVAR_007196166H → Q in MPS4A; severe form. 1 Publication1
Natural variantiVAR_071584166H → R in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_024893167F → V in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs148565559EnsemblClinVar.1
Natural variantiVAR_007197168G → R in MPS4A. Corresponds to variant dbSNP:rs775732598EnsemblClinVar.1
Natural variantiVAR_024894171D → A in MPS4A. 1 Publication1
Natural variantiVAR_007199179P → H in MPS4A; severe form. 1
Natural variantiVAR_007200179P → L in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024895179P → S in MPS4A. 2 Publications1
Natural variantiVAR_007201185E → G in MPS4A; severe form. 1 Publication1
Natural variantiVAR_071585201G → E in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs772413313Ensembl.1
Natural variantiVAR_024896203A → V in MPS4A. 1 Publication1
Natural variantiVAR_007203204N → K in MPS4A; mild form. 1 PublicationCorresponds to variant dbSNP:rs118204435EnsemblClinVar.1
Natural variantiVAR_071586214L → P in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs771810111EnsemblClinVar.1
Natural variantiVAR_071587216F → S in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs747805226Ensembl.1
Natural variantiVAR_007204230W → G in MPS4A; severe form. 3 Publications1
Natural variantiVAR_024897233D → N in MPS4A. 2 PublicationsCorresponds to variant dbSNP:rs753051547Ensembl.1
Natural variantiVAR_071588235T → K in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs398123440EnsemblClinVar.1
Natural variantiVAR_024898239V → F in MPS4A. 1 Publication1
Natural variantiVAR_007206247G → D in MPS4A. Corresponds to variant dbSNP:rs761385192EnsemblClinVar.1
Natural variantiVAR_024899253R → W in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs775300515Ensembl.1
Natural variantiVAR_007207257A → T in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs773283163Ensembl.1
Natural variantiVAR_007208259R → Q in MPS4A; mild form. Corresponds to variant dbSNP:rs118204442EnsemblClinVar.1
Natural variantiVAR_024900260E → D in MPS4A. 1 Publication1
Natural variantiVAR_071592264S → T in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007209279 – 287Missing in MPS4A; mild form. 9
Natural variantiVAR_007210284F → V in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs144067930EnsemblClinVar.1
Natural variantiVAR_024901285Missing in MPS4A. 1 Publication1
Natural variantiVAR_007211287S → L in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs770053354EnsemblClinVar.1
Natural variantiVAR_007212290G → S in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs975409254Ensembl.1
Natural variantiVAR_007213291A → D in MPS4A; mild form. 1
Natural variantiVAR_007214291A → T in MPS4A; severe form. 3 PublicationsCorresponds to variant dbSNP:rs118204448EnsemblClinVar.1
Natural variantiVAR_007215295S → F in MPS4A; mild form. Corresponds to variant dbSNP:rs149239881EnsemblClinVar.1
Natural variantiVAR_007216301G → C in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs118204443EnsemblClinVar.1
Natural variantiVAR_024902307L → P in MPS4A. 1 Publication1
Natural variantiVAR_007217309G → R in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024903310K → N in MPS4A. 1 Publication1
Natural variantiVAR_007218312T → S in MPS4A; mild/intermediate/severe form. 2 PublicationsCorresponds to variant dbSNP:rs118204446EnsemblClinVar.1
Natural variantiVAR_007219318M → R in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs746756997EnsemblClinVar.1
Natural variantiVAR_024904325W → C in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs1269110043Ensembl.1
Natural variantiVAR_007220325Missing in MPS4A. 1
Natural variantiVAR_024905340G → D in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs267606838EnsemblClinVar.1
Natural variantiVAR_024906341S → R in MPS4A. 1 Publication1
Natural variantiVAR_007221343M → R in MPS4A; severe form. 1
Natural variantiVAR_007222344D → E in MPS4A. 1
Natural variantiVAR_007223344D → N in MPS4A; severe form. 1
Natural variantiVAR_024907345L → P in MPS4A. 1 Publication1
Natural variantiVAR_007224346F → L in MPS4A; severe form. 1
Natural variantiVAR_007225351A → V in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs761386453Ensembl.1
Natural variantiVAR_024908352L → P in MPS4A. 1 Publication1
Natural variantiVAR_024909357P → L in MPS4A. 2 PublicationsCorresponds to variant dbSNP:rs769748679Ensembl.1
Natural variantiVAR_007226361R → G in MPS4A. Corresponds to variant dbSNP:rs778120439Ensembl.1
Natural variantiVAR_024910369L → P in MPS4A. 1 Publication1
Natural variantiVAR_007227376R → Q in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs150734270EnsemblClinVar.1
Natural variantiVAR_071593380R → G in MPS4A; loss of enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs770908172Ensembl.1
Natural variantiVAR_024911380R → S in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs200763834Ensembl.1
Natural variantiVAR_024912380R → T in MPS4A. 2 Publications1
Natural variantiVAR_007228386R → C in MPS4A; severe form. 3 PublicationsCorresponds to variant dbSNP:rs118204437EnsemblClinVar.1
Natural variantiVAR_024913386R → H in MPS4A. 2 Publications1
Natural variantiVAR_024914388D → N in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs373739301Ensembl.1
Natural variantiVAR_007229391M → V in MPS4A; severe form. 2 PublicationsCorresponds to variant dbSNP:rs398123429EnsemblClinVar.1
Natural variantiVAR_024915392A → V in MPS4A. 2 PublicationsCorresponds to variant dbSNP:rs398123430EnsemblClinVar.1
Natural variantiVAR_007231395L → P in MPS4A. 1 Publication1
Natural variantiVAR_007232395L → V in MPS4A; severe form. 1 Publication1
Natural variantiVAR_024916398H → D in MPS4A. 1 Publication1
Natural variantiVAR_024917401H → Y in MPS4A. 1 Publication1
Natural variantiVAR_024918403 – 404Missing in MPS4A. 1 Publication2
Natural variantiVAR_007233407N → H in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs749578474Ensembl.1
Natural variantiVAR_007234409W → S in MPS4A; associated with M-67 in a patient. 1
Natural variantiVAR_071594415G → V in MPS4A; loss of enzymatic activity. 1 Publication1
Natural variantiVAR_071595416I → T in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs142822371EnsemblClinVar.1
Natural variantiVAR_071596420P → R in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_007235450E → V in MPS4A; severe form. 1
Natural variantiVAR_024919452F → I in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs398123432EnsemblClinVar.1
Natural variantiVAR_024920470S → P in MPS4A. 1 Publication1
Natural variantiVAR_024921484P → S in MPS4A. 1 Publication1
Natural variantiVAR_007237487N → S in MPS4A. 2 PublicationsCorresponds to variant dbSNP:rs118204440EnsemblClinVar.1
Natural variantiVAR_071597492A → T in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs760300454Ensembl.1
Natural variantiVAR_007239494M → V in MPS4A; severe form. 1 Publication1
Natural variantiVAR_071599500G → S in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_071600507C → F in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs398123433EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dwarfism, Mucopolysaccharidosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
2588

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

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GeneReviewsi
GALNS

MalaCards human disease database

More...
MalaCardsi
GALNS
MIMi253000 phenotype

Open Targets

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OpenTargetsi
ENSG00000141012

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

More...
Orphaneti
309297 Mucopolysaccharidosis type 4A

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA28535

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB09051 Elosulfase alfa

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GALNS

Domain mapping of disease mutations (DMDM)

More...
DMDMi
462148

<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 – 26Add BLAST26
<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_000003341127 – 522N-acetylgalactosamine-6-sulfataseAdd BLAST496

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei793-oxoalanine (Cys)1 Publication1
<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>Glycosylationi204N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi308 ↔ 4191 Publication
Glycosylationi423N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi489 ↔ 5181 Publication
Disulfide bondi501 ↔ 5071 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
P34059

MaxQB - The MaxQuant DataBase

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MaxQBi
P34059

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

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PaxDbi
P34059

PeptideAtlas

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PeptideAtlasi
P34059

PRoteomics IDEntifications database

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PRIDEi
P34059

ProteomicsDB human proteome resource

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ProteomicsDBi
54938

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1531

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P34059

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

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PhosphoSitePlusi
P34059

<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
ENSG00000141012 Expressed in 201 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

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CleanExi
HS_GALNS

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P34059 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P34059 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB026404
HPA042433

<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

Homodimer.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108860, 39 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P34059

Protein interaction database and analysis system

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IntActi
P34059, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000268695

<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

1522
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P34059

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

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SMRi
P34059

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni27 – 379Catalytic domainAdd BLAST353

<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
ENSGT00940000157787

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000135352

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004283

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P34059

KEGG Orthology (KO)

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KOi
K01132

Identification of Orthologs from Complete Genome Data

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OMAi
RYYEEFP

Database of Orthologous Groups

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OrthoDBi
EOG091G07AL

Database for complete collections of gene phylogenies

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PhylomeDBi
P34059

TreeFam database of animal gene trees

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TreeFami
TF314186

Family and domain databases

Conserved Domains Database

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CDDi
cd16157 GALNS, 1 hit

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
IPR017849 Alkaline_Pase-like_a/b/a
IPR017850 Alkaline_phosphatase_core_sf
IPR035626 GALNS
IPR024607 Sulfatase_CS
IPR000917 Sulfatase_N

Pfam protein domain database

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Pfami
View protein in Pfam
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>.<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 5 potential isoforms that are computationally mapped.Show allAlign All

P34059-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAVVAATRW WQLLLVLSAA GMGASGAPQP PNILLLLMDD MGWGDLGVYG
60 70 80 90 100
EPSRETPNLD RMAAEGLLFP NFYSANPLCS PSRAALLTGR LPIRNGFYTT
110 120 130 140 150
NAHARNAYTP QEIVGGIPDS EQLLPELLKK AGYVSKIVGK WHLGHRPQFH
160 170 180 190 200
PLKHGFDEWF GSPNCHFGPY DNKARPNIPV YRDWEMVGRY YEEFPINLKT
210 220 230 240 250
GEANLTQIYL QEALDFIKRQ ARHHPFFLYW AVDATHAPVY ASKPFLGTSQ
260 270 280 290 300
RGRYGDAVRE IDDSIGKILE LLQDLHVADN TFVFFTSDNG AALISAPEQG
310 320 330 340 350
GSNGPFLCGK QTTFEGGMRE PALAWWPGHV TAGQVSHQLG SIMDLFTTSL
360 370 380 390 400
ALAGLTPPSD RAIDGLNLLP TLLQGRLMDR PIFYYRGDTL MAATLGQHKA
410 420 430 440 450
HFWTWTNSWE NFRQGIDFCP GQNVSGVTTH NLEDHTKLPL IFHLGRDPGE
460 470 480 490 500
RFPLSFASAE YQEALSRITS VVQQHQEALV PAQPQLNVCN WAVMNWAPPG
510 520
CEKLGKCLTP PESIPKKCLW SH
Length:522
Mass (Da):58,026
Last modified:February 1, 1994 - 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:i1D086E528AAAE949
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BP66H3BP66_HUMAN
N-acetylgalactosamine-6-sulfatase
GALNS
170Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H3BNU2H3BNU2_HUMAN
N-acetylgalactosamine-6-sulfatase
GALNS
116Annotation 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>
H3BSU9H3BSU9_HUMAN
N-acetylgalactosamine-6-sulfatase
GALNS
78Annotation 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>
Q6MZF5Q6MZF5_HUMAN
N-acetylgalactosamine-6-sulfatase
GALNS DKFZp686M2125
69Annotation 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>
H3BV24H3BV24_HUMAN
N-acetylgalactosamine-6-sulfatase
GALNS
51Annotation 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_02487315L → M in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs866745731Ensembl.1
Natural variantiVAR_07156916V → E in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs794729202EnsemblClinVar.1
Natural variantiVAR_02487417 – 18Missing in MPS4A. 1 Publication2
Natural variantiVAR_02487523G → R in MPS4A. 1 Publication1
Natural variantiVAR_02487636L → P in MPS4A. 1 Publication1
Natural variantiVAR_07157036L → R in MPS4A; reduced enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs755832705EnsemblClinVar.1
Natural variantiVAR_07157140D → N in MPS4A. 1 Publication1
Natural variantiVAR_02487741M → L in MPS4A. 1 Publication1
Natural variantiVAR_02487842G → E in MPS4A. 1 Publication1
Natural variantiVAR_00717247G → R in MPS4A; severe form. Corresponds to variant dbSNP:rs199638097EnsemblClinVar.1
Natural variantiVAR_07157248V → G in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs191519947Ensembl.1
Natural variantiVAR_07157351E → K in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_02487952 – 55Missing in MPS4A. 1 Publication4
Natural variantiVAR_02488053S → F in MPS4A. 1 Publication1
Natural variantiVAR_00717360D → N in MPS4A; mild form. Corresponds to variant dbSNP:rs118204447EnsemblClinVar.1
Natural variantiVAR_02488161R → W in MPS4A. 2 PublicationsCorresponds to variant dbSNP:rs145798311EnsemblClinVar.1
Natural variantiVAR_00717467L → M Associated with S-409 in a MPS4A patient. 1 PublicationCorresponds to variant dbSNP:rs11862754EnsemblClinVar.1
Natural variantiVAR_02488269F → V in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs118204445EnsemblClinVar.1
Natural variantiVAR_02488371 – 74NFYS → T in MPS4A. 1 Publication4
Natural variantiVAR_07157474S → F1 Publication1
Natural variantiVAR_00717577P → R in MPS4A; severe form. 3 Publications1
Natural variantiVAR_02488479C → Y in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs1263679818Ensembl.1
Natural variantiVAR_00717780S → L in MPS4A; intermediate form. 2 Publications1
Natural variantiVAR_07157581P → L in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_07157684A → E in MPS4A; loss of enzymatic activity. 1 PublicationCorresponds to variant dbSNP:rs141340188Ensembl.1
Natural variantiVAR_00717890R → W in MPS4A; severe form. 3 PublicationsCorresponds to variant dbSNP:rs1028668536Ensembl.1
Natural variantiVAR_07157791L → P in MPS4A; loss of enzymatic activity. 1 Publication1
Natural variantiVAR_00717994R → C in MPS4A; mild/intermediate form. 3 Publications1
Natural variantiVAR_00718094R → G in MPS4A; mild/intermediate form. Corresponds to variant dbSNP:rs118204441EnsemblClinVar.1
Natural variantiVAR_02488594R → L in MPS4A. 2 Publications1
Natural variantiVAR_00718196G → C in MPS4A. 1
Natural variantiVAR_00718296G → V in MPS4A; severe form. 3 Publications1
Natural variantiVAR_00718397F → V in MPS4A; mild form. 2 Publications1
Natural variantiVAR_024886107A → T in MPS4A. 1 PublicationCorresponds to variant dbSNP:rs763184657Ensembl.1
Natural variantiVAR_007184111Q → R in MPS4A; intermediate form. 1
Natural variantiVAR_007185113I → F in MPS4A; severe form; common mutation; found in patients with Irish-British ancestry. 3 PublicationsCorresponds to variant dbSNP:rs118204438EnsemblClinVar.1
Natural variantiVAR_024887116G → S in MPS4A. 2 Publications1
Natural variantiVAR_071578116G → V in MPS4A; reduced enzymatic activity. 1 Publication1
Natural variantiVAR_071579121E → D1 Publication1
Natural variantiVAR_007186125P → L in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs746949976Ensembl.1
Natural variantiVAR_007187135S → R in MPS4A; severe form. 1 Publication1
Natural variantiVAR_007188138V → A in MPS4A; mild/severe/intermediate form. 1 PublicationCorresponds to variant dbSNP:rs118204436EnsemblClinVar.1
Natural variantiVAR_007189139G → S in MPS4A; severe form. 2 PublicationsCorresponds to variant dbSNP:rs146093755EnsemblClinVar.1
Natural variantiVAR_024888141W → C in MPS4A. 1 Publication1
Natural variantiVAR_007190141W → R in MPS4A; severe form. 1 PublicationCorresponds to variant dbSNP:rs794727625