Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ARSG Gene

Aliases for ARSG Gene

  • Arylsulfatase G 2 3 5
  • ASG 3 4
  • EC 3.1.6.4 56
  • EC 3.1.6.- 4
  • KIAA1001 4
  • EC 3.1.6 56

External Ids for ARSG Gene

Previous GeneCards Identifiers for ARSG Gene

  • GC17P063767
  • GC17P066255
  • GC17P061641

Summaries for ARSG Gene

Entrez Gene Summary for ARSG Gene

  • The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]

GeneCards Summary for ARSG Gene

ARSG (Arylsulfatase G) is a Protein Coding gene. Diseases associated with ARSG include Scotoma. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSA.

UniProtKB/Swiss-Prot for ARSG Gene

  • 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.

Additional gene information for ARSG Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSG Gene

Genomics for ARSG Gene

GeneHancer (GH) Regulatory Elements for ARSG Gene

Promoters and enhancers for ARSG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I068252 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 567.9 -0.4 -426 8.7 HDGF PKNOX1 FOXA2 SIN3A TCF12 ZNF121 ZNF207 ZNF143 ATF7 RXRA ARSG AMZ2 WIPI1 MIR635 BPTF ENSG00000265100
GH17I068287 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.3 +33.2 33198 6.2 HDGF PKNOX1 CLOCK ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 SLC16A6 ARSG NOL11 AMZ2 BPTF ABCA10 PRKAR1A GC17P068267
GH17I068262 Enhancer 1.1 Ensembl ENCODE dbSUPER 17.5 +6.1 6142 1 CTCF TFAP4 ZNF48 RAD21 GATA3 SMC3 ZNF143 ZNF600 ZNF444 SMARCA5 AMZ2 ARSG WIPI1 MIR635 GC17P068267
GH17I068304 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +48.2 48217 1.4 JUND ATF3 ZNF189 FOSL2 FOS HOMEZ ZNF592 AMZ2 ARSG MIR635 SLC16A6 BPTF GC17M068333
GH17I068234 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 7.2 -19.5 -19504 7.3 PKNOX1 FOXA2 SMAD1 NEUROD1 BMI1 KLF5 ZBTB40 ZNF335 E2F8 SCRT2 BPTF ARHGAP27P2 AMZ2 ARSG SLC16A6 GC17P068233 ENSG00000265100
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARSG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARSG gene promoter:

Genomic Locations for ARSG Gene

Genomic Locations for ARSG Gene
chr17:68,257,159-68,450,773
(GRCh38/hg38)
Size:
193,615 bases
Orientation:
Plus strand
chr17:66,255,323-66,418,872
(GRCh37/hg19)

Genomic View for ARSG Gene

Genes around ARSG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARSG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARSG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARSG Gene

Proteins for ARSG Gene

  • Protein details for ARSG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EG1-ARSG_HUMAN
    Recommended name:
    Arylsulfatase G
    Protein Accession:
    Q96EG1
    Secondary Accessions:
    • Q6UXF2
    • Q9Y2K4

    Protein attributes for ARSG Gene

    Size:
    525 amino acids
    Molecular mass:
    57061 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA76845.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ARSG Gene

Selected DME Specific Peptides for ARSG Gene

Q96EG1:
  • KQTTWEGGHRVPALAYWPGRVP
  • GDNGPWAQKCELAGS
  • DDMGWGDLG
  • GLPLNETTLA

Post-translational modifications for ARSG Gene

  • Glycosylated.
  • 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.
  • Glycosylation at posLast=117117, posLast=215215, posLast=356356, and posLast=497497
  • Modification sites at PhosphoSitePlus

Domains & Families for ARSG Gene

Gene Families for ARSG Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ARSG Gene

Graphical View of Domain Structure for InterPro Entry

Q96EG1

UniProtKB/Swiss-Prot:

ARSG_HUMAN :
  • Belongs to the sulfatase family.
Family:
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with ARSG: view

Function for ARSG Gene

Molecular function for ARSG Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.2 mM for p-nitrocatechol sulfate {ECO:0000269 PubMed:18283100}; Vmax=63.5 umol/min/mg enzyme toward p-nitrocatechol sulfate {ECO:0000269 PubMed:18283100}; pH dependence: Optimum pH is 5.4. {ECO:0000269 PubMed:18283100}; Temperature dependence: Most efficient at 45-50 degrees Celsius. {ECO:0000269 PubMed:18283100};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by phosphate. The phosphate forms a covalent bond with the active site 3-oxoalanine.
UniProtKB/Swiss-Prot Function:
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.

Enzyme Numbers (IUBMB) for ARSG Gene

Phenotypes From GWAS Catalog for ARSG Gene

Gene Ontology (GO) - Molecular Function for ARSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004065 arylsulfatase activity IDA,TAS 16174644
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARSG: view
genes like me logo Genes that share phenotypes with ARSG: view

Animal Models for ARSG Gene

MGI Knock Outs for ARSG:

Animal Model Products

  • Taconic Biosciences Mouse Models for ARSG

miRNA for ARSG Gene

miRTarBase miRNAs that target ARSG

Clone Products

  • Addgene plasmids for ARSG

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARSG Gene

Localization for ARSG Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSG Gene

Lysosome. Note=Previously observed endoplasmic reticulum localization is most likely due to folding/maturation problems for overexpressed proteins.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARSG gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
lysosome 5
plasma membrane 1
mitochondrion 1
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ARSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 18283100
GO:0005764 lysosome IEA,IDA 18283100
GO:0005783 endoplasmic reticulum IDA 12461688
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with ARSG: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ARSG Gene

Pathways & Interactions for ARSG Gene

genes like me logo Genes that share pathways with ARSG: view

Gene Ontology (GO) - Biological Process for ARSG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006790 sulfur compound metabolic process IDA 18283100
GO:0008152 metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with ARSG: view

No data available for SIGNOR curated interactions for ARSG Gene

Drugs & Compounds for ARSG Gene

(1) Drugs for ARSG Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with ARSG: view

Transcripts for ARSG Gene

Unigene Clusters for ARSG Gene

Arylsulfatase G:
Representative Sequences:

Clone Products

  • Addgene plasmids for ARSG

Alternative Splicing Database (ASD) splice patterns (SP) for ARSG Gene

No ASD Table

Relevant External Links for ARSG Gene

GeneLoc Exon Structure for
ARSG
ECgene alternative splicing isoforms for
ARSG

Expression for ARSG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARSG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARSG Gene

This gene is overexpressed in Whole Blood (x6.6).

Protein differential expression in normal tissues from HIPED for ARSG Gene

This gene is overexpressed in Serum (47.7) and Urine (21.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ARSG Gene



Protein tissue co-expression partners for ARSG Gene

NURSA nuclear receptor signaling pathways regulating expression of ARSG Gene:

ARSG

SOURCE GeneReport for Unigene cluster for ARSG Gene:

Hs.437249

mRNA Expression by UniProt/SwissProt for ARSG Gene:

Q96EG1-ARSG_HUMAN
Tissue specificity: Widely expressed, with very low expression in brain, lung, heart and skeletal muscle.

Evidence on tissue expression from TISSUES for ARSG Gene

  • Nervous system(4.3)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with ARSG: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSG Gene

Orthologs for ARSG Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARSG 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia ARSG 33 34
  • 85.81 (n)
rat
(Rattus norvegicus)
Mammalia Arsg 33
  • 82.09 (n)
mouse
(Mus musculus)
Mammalia Arsg 33 16 34
  • 81.9 (n)
cow
(Bos Taurus)
Mammalia ARSG 33 34
  • 75.33 (n)
oppossum
(Monodelphis domestica)
Mammalia ARSG 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 29 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ARSG 33 34
  • 67.93 (n)
lizard
(Anolis carolinensis)
Reptilia ARSG 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arsg 33
  • 61.92 (n)
zebrafish
(Danio rerio)
Actinopterygii arsg 33 34
  • 58.76 (n)
worm
(Caenorhabditis elegans)
Secernentea sul-2 34
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToOne
Species where no ortholog for ARSG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARSG Gene

ENSEMBL:
Gene Tree for ARSG (if available)
TreeFam:
Gene Tree for ARSG (if available)

Paralogs for ARSG Gene

Paralogs for ARSG Gene

(3) SIMAP similar genes for ARSG Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ARSG: view

Variants for ARSG Gene

Sequence variations from dbSNP and Humsavar for ARSG Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000021650 -- 68,318,862(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000022114 -- 68,417,229(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000031048 -- 68,358,467(+) T/A intron_variant
rs1000047717 -- 68,442,560(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000054925 -- 68,417,610(+) C/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ARSG Gene

Variant ID Type Subtype PubMed ID
esv2673940 CNV deletion 23128226
esv3641110 CNV loss 21293372
esv3641111 CNV gain 21293372
nsv1116234 CNV deletion 24896259
nsv1126468 CNV deletion 24896259
nsv1127593 CNV deletion 24896259
nsv1154062 CNV duplication 26484159
nsv478472 CNV novel sequence insertion 20440878
nsv833523 CNV gain 17160897
nsv978460 CNV duplication 23825009

Variation tolerance for ARSG Gene

Residual Variation Intolerance Score: 55.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.88; 93.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSG Gene

Human Gene Mutation Database (HGMD)
ARSG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARSG

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARSG Gene

Disorders for ARSG Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARSG Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
scotoma
  • blind spot area scotoma
- elite association - COSMIC cancer census association via MalaCards
Search ARSG in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARSG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARSG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARSG Gene

Publications for ARSG Gene

  1. Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG). (PMID: 12461688) Ferrante P … Ballabio A (European journal of human genetics : EJHG 2002) 2 3 4 22 58
  2. Arylsulfatase G, a novel lysosomal sulfatase. (PMID: 18283100) Frese MA … Dierks T (The Journal of biological chemistry 2008) 3 4 22 58
  3. Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia. (PMID: 25825126) Nibbeling E … Lohmann K (Journal of neurology 2015) 3 4 58
  4. Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. (PMID: 19960030) Hong KW … Oh B (Journal of human hypertension 2010) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ARSG Gene

  • Addgene plasmids for ARSG

Sources for ARSG Gene

Content
Loading form....