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Entry version 150 (12 Aug 2020)
Sequence version 1 (01 Dec 2001)
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Protein

Arylsulfatase G

Gene

ARSG

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

Displays arylsulfatase activity at acidic pH with pseudosubstrates, such as p-nitrocatechol sulfate and also, but with lower activity, p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<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+By similarityNote: Binds 1 Ca2+ ion per subunit.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=4.2 mM for p-nitrocatechol sulfate1 Publication
  1. Vmax=63.5 µmol/min/mg enzyme toward p-nitrocatechol sulfate1 Publication

pH dependencei

Optimum pH is 5.4.1 Publication

Temperature dependencei

Most efficient at 45-50 degrees Celsius.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi44CalciumBy similarity1
Metal bindingi45CalciumBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei84Nucleophile1 Publication1
Metal bindingi84Calcium; via 3-oxoalanineBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei137SubstrateBy similarity1
Active sitei139By similarity1
Binding sitei162SubstrateBy similarity1
Binding sitei251SubstrateBy similarity1
Metal bindingi302CalciumBy similarity1
Metal bindingi303CalciumBy similarity1

<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

  • arylsulfatase activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW

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

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q96EG1

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1660662, Glycosphingolipid metabolism
R-HSA-1663150, The activation of arylsulfatases

SABIO-RK: Biochemical Reaction Kinetics Database

More...
SABIO-RKi
Q96EG1

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Arylsulfatase G (EC:3.1.6.12 Publications)
Short name:
ASG
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARSG
Synonyms:KIAA1001
ORF Names:UNQ839/PRO1777
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000141337.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24102, ARSG

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610008, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96EG1

<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

Usher syndrome 4 (USH4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive.
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_08157745D → Y in USH4; loss of sulfatase activity toward p-nitrocatechol sulfate; loss of processing of the precursor protein suggesting impaired transport to lysosomes. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi84C → A: No sulfatase activity. 1 Publication1
Mutagenesisi501A → P: Decrease of sulfatase activity. 1 Publication1

Keywords - Diseasei

Deafness, Disease mutation, Retinitis pigmentosa, Usher syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
22901

MalaCards human disease database

More...
MalaCardsi
ARSG
MIMi618144, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000141337

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

More...
Orphaneti
231183, Usher syndrome type 3

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485307

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96EG1, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2189124

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ARSG

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74731559

<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 – 16Sequence analysisAdd BLAST16
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000004221517 – 525Arylsulfatase GAdd BLAST509

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 residuei843-oxoalanine (Cys)1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi117N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi215N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi356N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi497N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.
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.By similarity
Glycosylated.

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96EG1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96EG1

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

More...
PaxDbi
Q96EG1

PeptideAtlas

More...
PeptideAtlasi
Q96EG1

PRoteomics IDEntifications database

More...
PRIDEi
Q96EG1

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
76405

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q96EG1, 4 sites

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96EG1

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

More...
PhosphoSitePlusi
Q96EG1

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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed, with very low expression in brain, lung, heart and skeletal muscle.3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000141337, Expressed in blood and 117 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96EG1, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96EG1, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000141337, Tissue enhanced (epididymis)

<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
116565, 26 interactors

Protein interaction database and analysis system

More...
IntActi
Q96EG1, 20 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000407193

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96EG1, protein

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

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the sulfatase family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3867, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159093

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_006332_13_6_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96EG1

KEGG Orthology (KO)

More...
KOi
K12381

Identification of Orthologs from Complete Genome Data

More...
OMAi
EFLFHPN

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96EG1

TreeFam database of animal gene trees

More...
TreeFami
TF314186

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.720.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017850, Alkaline_phosphatase_core_sf
IPR024607, Sulfatase_CS
IPR000917, Sulfatase_N

Pfam protein domain database

More...
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

More...
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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q96EG1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGWLFLKVLL AGVSFSGFLY PLVDFCISGK TRGQKPNFVI ILADDMGWGD
60 70 80 90 100
LGANWAETKD TANLDKMASE GMRFVDFHAA ASTCSPSRAS LLTGRLGLRN
110 120 130 140 150
GVTRNFAVTS VGGLPLNETT LAEVLQQAGY VTGIIGKWHL GHHGSYHPNF
160 170 180 190 200
RGFDYYFGIP YSHDMGCTDT PGYNHPPCPA CPQGDGPSRN LQRDCYTDVA
210 220 230 240 250
LPLYENLNIV EQPVNLSSLA QKYAEKATQF IQRASTSGRP FLLYVALAHM
260 270 280 290 300
HVPLPVTQLP AAPRGRSLYG AGLWEMDSLV GQIKDKVDHT VKENTFLWFT
310 320 330 340 350
GDNGPWAQKC ELAGSVGPFT GFWQTRQGGS PAKQTTWEGG HRVPALAYWP
360 370 380 390 400
GRVPVNVTST ALLSVLDIFP TVVALAQASL PQGRRFDGVD VSEVLFGRSQ
410 420 430 440 450
PGHRVLFHPN SGAAGEFGAL QTVRLERYKA FYITGGARAC DGSTGPELQH
460 470 480 490 500
KFPLIFNLED DTAEAVPLER GGAEYQAVLP EVRKVLADVL QDIANDNISS
510 520
ADYTQDPSVT PCCNPYQIAC RCQAA
Length:525
Mass (Da):57,061
Last modified:December 1, 2001 - 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:iADAB673A02B25754
GO

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

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J9JIG6J9JIG6_HUMAN
Arylsulfatase G
ARSG
361Annotation 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>
J3KS49J3KS49_HUMAN
Arylsulfatase G
ARSG
28Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA76845 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti444 – 445TG → MV in AAQ88746 (PubMed:12975309).Curated2
Sequence conflicti501A → P in BAA76845 (PubMed:10231032).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05251111A → V. Corresponds to variant dbSNP:rs8074806EnsemblClinVar.1
Natural variantiVAR_08157745D → Y in USH4; loss of sulfatase activity toward p-nitrocatechol sulfate; loss of processing of the precursor protein suggesting impaired transport to lysosomes. 1 Publication1
Natural variantiVAR_052512236T → S1 PublicationCorresponds to variant dbSNP:rs1558876Ensembl.1
Natural variantiVAR_052513274W → R1 PublicationCorresponds to variant dbSNP:rs1558878Ensembl.1
Natural variantiVAR_074038326R → G1 PublicationCorresponds to variant dbSNP:rs144503106Ensembl.1
Natural variantiVAR_052514385R → H1 PublicationCorresponds to variant dbSNP:rs9972951Ensembl.1
Natural variantiVAR_074039398R → W1 PublicationCorresponds to variant dbSNP:rs11657051Ensembl.1
Natural variantiVAR_074040444T → M1 PublicationCorresponds to variant dbSNP:rs62000424Ensembl.1
Natural variantiVAR_074041481E → K1 PublicationCorresponds to variant dbSNP:rs370852507Ensembl.1
Natural variantiVAR_074042493I → T1 PublicationCorresponds to variant dbSNP:rs61999318EnsemblClinVar.1

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
AB023218 mRNA Translation: BAA76845.2 Different initiation.
AY358380 mRNA Translation: AAQ88746.1
BC012375 mRNA Translation: AAH12375.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11676.1

NCBI Reference Sequences

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RefSeqi
NP_001254656.1, NM_001267727.1
NP_055775.2, NM_014960.4
XP_005257227.1, XM_005257170.3
XP_016879850.1, XM_017024361.1
XP_016879851.1, XM_017024362.1
XP_016879852.1, XM_017024363.1
XP_016879853.1, XM_017024364.1
XP_016879854.1, XM_017024365.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000448504; ENSP00000407193; ENSG00000141337
ENST00000621439; ENSP00000480910; ENSG00000141337

Database of genes from NCBI RefSeq genomes

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GeneIDi
22901

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:22901

UCSC genome browser

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UCSCi
uc002jhc.3, 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
AB023218 mRNA Translation: BAA76845.2 Different initiation.
AY358380 mRNA Translation: AAQ88746.1
BC012375 mRNA Translation: AAH12375.1
CCDSiCCDS11676.1
RefSeqiNP_001254656.1, NM_001267727.1
NP_055775.2, NM_014960.4
XP_005257227.1, XM_005257170.3
XP_016879850.1, XM_017024361.1
XP_016879851.1, XM_017024362.1
XP_016879852.1, XM_017024363.1
XP_016879853.1, XM_017024364.1
XP_016879854.1, XM_017024365.1

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi116565, 26 interactors
IntActiQ96EG1, 20 interactors
STRINGi9606.ENSP00000407193

Chemistry databases

ChEMBLiCHEMBL2189124

PTM databases

GlyGeniQ96EG1, 4 sites
iPTMnetiQ96EG1
PhosphoSitePlusiQ96EG1

Polymorphism and mutation databases

BioMutaiARSG
DMDMi74731559

Proteomic databases

EPDiQ96EG1
MassIVEiQ96EG1
PaxDbiQ96EG1
PeptideAtlasiQ96EG1
PRIDEiQ96EG1
ProteomicsDBi76405

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
19259, 167 antibodies

Genome annotation databases

EnsembliENST00000448504; ENSP00000407193; ENSG00000141337
ENST00000621439; ENSP00000480910; ENSG00000141337
GeneIDi22901
KEGGihsa:22901
UCSCiuc002jhc.3, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
22901
DisGeNETi22901
EuPathDBiHostDB:ENSG00000141337.12

GeneCards: human genes, protein and diseases

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GeneCardsi
ARSG
HGNCiHGNC:24102, ARSG
HPAiENSG00000141337, Tissue enhanced (epididymis)
MalaCardsiARSG
MIMi610008, gene
618144, phenotype
neXtProtiNX_Q96EG1
OpenTargetsiENSG00000141337
Orphaneti231183, Usher syndrome type 3
PharmGKBiPA143485307

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3867, Eukaryota
GeneTreeiENSGT00940000159093
HOGENOMiCLU_006332_13_6_1
InParanoidiQ96EG1
KOiK12381
OMAiEFLFHPN
PhylomeDBiQ96EG1
TreeFamiTF314186

Enzyme and pathway databases

PathwayCommonsiQ96EG1
ReactomeiR-HSA-1660662, Glycosphingolipid metabolism
R-HSA-1663150, The activation of arylsulfatases
SABIO-RKiQ96EG1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
22901, 2 hits in 869 CRISPR screens

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

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ChiTaRSi
ARSG, human

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

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GenomeRNAii
22901
PharosiQ96EG1, Tbio

Protein Ontology

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PROi
PR:Q96EG1
RNActiQ96EG1, protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000141337, Expressed in blood and 117 other tissues
ExpressionAtlasiQ96EG1, baseline and differential
GenevisibleiQ96EG1, HS

Family and domain databases

Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017850, Alkaline_phosphatase_core_sf
IPR024607, Sulfatase_CS
IPR000917, Sulfatase_N
PfamiView protein in Pfam
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

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiARSG_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: Q96EG1
Secondary accession number(s): Q6UXF2, Q9Y2K4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 11, 2005
Last sequence update: December 1, 2001
Last modified: August 12, 2020
This is version 150 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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