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 sulfat... See more...

Aliases for ARSG Gene

Aliases for ARSG Gene

  • Arylsulfatase G 2 3 4 5
  • KIAA1001 2 4
  • ASG 3 4
  • EC 3.1.6.4 50
  • EC 3.1.6.1 4
  • EC 3.1.6 50
  • USH4 3
  • ARSG 5

External Ids for ARSG Gene

Previous GeneCards Identifiers for ARSG Gene

  • GC17P063767
  • GC17P066255
  • GC17P061641
  • GC17P068271
  • GC17P068285
  • GC17P068290
  • GC17P068326

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 Usher Syndrome, Type Iv and Usher Syndrome, Type Iiia. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Sphingolipid metabolism. 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 Summary 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARSG Gene

Genomics for ARSG Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH17J068287 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 259.4 +31.3 31260 6.3 SP1 ZNF600 MYC ZNF580 ZMYM3 KLF9 POLR2A CEBPA ZNF10 ZIC2 SLC16A6 ARSG HSALNG0118362 NOL11 BPTF AMZ2 SH3GL1P3 ABCA10 PRKAR1A piR-42491-100
GH17J068252 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 267.8 -2.7 -2731 9.3 ZNF207 NCOR1 ATF2 ZIC2 YY1 MAX SIN3A RXRA TAL1 PRDM10 ARSG HSALNG0118359 AMZ2 WIPI1 MIR635 BPTF NONHSAG022592.2
GH17J068398 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 250.1 +140.6 140574 2.6 ZNF654 CEBPA ZIC2 MXD4 CEBPB CTCF REST KLF11 TRIM22 ZNF639 ARSG MIR635 WIPI1 SNRPGP4 AMZ2 ENSG00000265055 TRUND-NNN5-1 tRNA-Und-NNN-5-1 piR-31937-091 PRKAR1A
GH17J068262 Enhancer 0.9 ENCODE dbSUPER 17.8 +4.1 4122 0.7 ZNF654 ZNF600 CTCF TRIM22 ELF1 RAD21 SMC3 MIER3 ZFP37 ZNF48 AMZ2 ARSG WIPI1 MIR635 lnc-AMZ2-2 SLC16A6
GH17J068304 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 10.6 +46.2 46206 1.4 HOMEZ JUND ZNF189 FOS ZNF592 ATF3 PPP1R10 ZNF184 AMZ2 ARSG MIR635 SLC16A6 BPTF piR-33303-074 RF00017-2267 PRKAR1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARSG on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARSG

Top Transcription factor binding sites by QIAGEN in the ARSG gene promoter:
  • AREB6
  • ATF-2
  • c-Myc
  • C/EBPbeta
  • Ik-1
  • Max
  • p53
  • Pax-6
  • SRF
  • SRF (504 AA)

Genomic Locations for ARSG Gene

Latest Assembly
chr17:68,259,170-68,452,019
(GRCh38/hg38)
Size:
192,850 bases
Orientation:
Plus strand

Previous Assembly
chr17:66,255,311-66,448,160
(GRCh37/hg19 by Entrez Gene)
Size:
192,850 bases
Orientation:
Plus strand

chr17:66,255,323-66,418,872
(GRCh37/hg19 by Ensembl)
Size:
163,550 bases
Orientation:
Plus strand

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; Note=Extended N-terminus.; 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

  • 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.
  • Glycosylated.
  • Glycosylation at Asn117, Asn215, Asn356, and Asn497
  • Modification sites at PhosphoSitePlus

Domains & Families for ARSG Gene

Gene Families for ARSG Gene

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

Protein Domains for ARSG Gene

Suggested Antigen Peptide Sequences for ARSG Gene

GenScript: Design optimal peptide antigens:
  • Arylsulfatase G (ARSG_HUMAN)
  • cDNA FLJ59825, highly similar to Arylsulfatase G (EC 3.1.6.-) (B4DQ74_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a phenyl sulfate + H2O = a phenol + H(+) + sulfate; Xref=Rhea:RHEA:17261, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16189, ChEBI:CHEBI:33853, ChEBI:CHEBI:140317; EC=3.1.6.1; Evidence={ECO:0000269|PubMed:18283100, ECO:0000269|PubMed:29300381};.
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.

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:0003824 catalytic activity IEA --
GO:0004065 arylsulfatase activity 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

Human Phenotype Ontology for ARSG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARSG Gene

MGI Knock Outs for ARSG:
  • Arsg Arsg<tm1Tdi>
  • Arsg Arsg<tm1a(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for ARSG

miRNA for ARSG Gene

miRTarBase miRNAs that target ARSG

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARSG

No data available for 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
lysosome 5
endoplasmic reticulum 4
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
golgi apparatus 1
peroxisome 0
cytosol 0

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:0006790 sulfur compound metabolic process IDA 18283100
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 Nutra 6959
genes like me logo Genes that share compounds with ARSG: view

Transcripts for ARSG Gene

mRNA/cDNA for ARSG Gene

13 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for ARSG Gene

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



Protein tissue co-expression partners for ARSG Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with ARSG: view

Primer products for research

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 29 30
  • 99.43 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARSG 29 30
  • 85.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arsg 29
  • 82.09 (n)
Mouse
(Mus musculus)
Mammalia Arsg 29 16 30
  • 81.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARSG 29 30
  • 75.33 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARSG 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 29 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves ARSG 29 30
  • 67.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ARSG 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arsg 29
  • 61.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii arsg 29 30
  • 58.76 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea sul-2 30
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 50 (a)
OneToOne
Species where no ortholog for ARSG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ARSG: view image
Alliance of Genome Resources:
Additional Orthologs for ARSG

Paralogs for ARSG Gene

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

  • ARSG_HUMAN
  • J3KS49_HUMAN
  • J9JIG6_HUMAN
genes like me logo Genes that share paralogs with ARSG: view

Variants for ARSG Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARSG Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1002055 Uncertain Significance: not provided 68,420,297(+) G/A
NM_001267727.2(ARSG):c.1412G>A (p.Gly471Asp)
MISSENSE_VARIANT,INTRON
1002589 Uncertain Significance: not provided 68,347,169(+) C/T
NM_001267727.2(ARSG):c.451C>T (p.Arg151Cys)
MISSENSE_VARIANT,INTRON
1002820 Uncertain Significance: not provided 68,307,623(+) G/A
NM_001267727.2(ARSG):c.130G>A (p.Asp44Asn)
MISSENSE
1005075 Uncertain Significance: not provided 68,351,626(+) A/C
NM_001267727.2(ARSG):c.506A>C (p.Asp169Ala)
MISSENSE
1005383 Uncertain Significance: not provided 68,370,519(+) G/A
NM_001267727.2(ARSG):c.977G>A (p.Arg326His)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARSG Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ARSG

SNP Genotyping and Copy Number Assays for research

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

Disorders for ARSG Gene

MalaCards: The human disease database

(16) MalaCards diseases for ARSG Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
usher syndrome, type iv
  • ush4
usher syndrome, type iiia
  • ush3a
retinitis pigmentosa-deafness syndrome
  • retinitis pigmentosa 8, formerly; rp8, formerly
usher syndrome
  • deafness-retinitis pigmentosa syndrome
blepharospasm
- elite association - COSMIC cancer census association via MalaCards
Search ARSG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARSG_HUMAN
  • Usher syndrome 4 (USH4) [MIM:618144]: A 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. {ECO:0000269 PubMed:29300381}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ARSG

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ARSG: view

No data available for 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
  2. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. (PMID: 29300381) Khateb S … Sharon D (Genetics in medicine : official journal of the American College of Medical Genetics 2018) 3 4 72
  3. Arylsulfatase G, a novel lysosomal sulfatase. (PMID: 18283100) Frese MA … Dierks T (The Journal of biological chemistry 2008) 3 4 22
  4. 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
  5. 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 40

Products for ARSG Gene

Sources for ARSG Gene