Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008] See more...

Aliases for ARSH Gene

Aliases for ARSH Gene

  • Arylsulfatase Family Member H 2 3 5
  • Arylsulfatase H 2 3 4
  • ASH 3 4
  • Arylsulfatase Family, Member H 2
  • EC 3.1.6.2 50
  • EC 3.1.6.- 4
  • Sulfatase 3
  • EC 3.1.6 50
  • ARSH 5

External Ids for ARSH Gene

Previous GeneCards Identifiers for ARSH Gene

  • GC0XP002919
  • GC0XP000867

Summaries for ARSH Gene

Entrez Gene Summary for ARSH Gene

  • Sulfatases, such as ARSH, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ARSH Gene

ARSH (Arylsulfatase Family Member H) is a Protein Coding gene. Diseases associated with ARSH include Multiple Sulfatase Deficiency and Metachromatic Leukodystrophy. 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 ARSD.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARSH Gene

Genomics for ARSH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARSH 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
GH0XJ002894 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 13.5 -109.2 -109167 5.8 NCOR1 CEBPA NFIC YY1 CEBPB MAX ZNF217 CTBP1 RXRA TAL1 HSALNG0136394 ARSH ARSD ARSL HSALNG0136395 GYG2
GH0XJ003026 Enhancer 0.7 Ensembl ENCODE 8.7 +20.0 19985 0.9 NFIC ZNF217 ELF1 CTBP1 SMARCE1 PKNOX1 DPF2 NFIB FOS ELK1 RF00017-7526 ARSH ARSF
GH0XJ002783 Enhancer 0.3 FANTOM5 14.6 -222.8 -222833 0.3 ZNF512 ARSH GYG2 piR-59907-031 HSALNG0136387 XG
GH0XJ003035 Enhancer 0.6 Ensembl 0.3 +29.6 29555 0.2 CEBPA TRIM22 TBP CTCF NR2C1 RXRA RAD21 SMC3 HNF4A SCRT1 ARSF NONHSAG053948.2 ARSH
GH0XJ002973 Enhancer 0.2 Ensembl 0.3 -32.8 -32845 0.2 ARSL piR-36588-479 ARSH
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the ARSH gene promoter:
  • p53

Genomic Locations for ARSH Gene

Latest Assembly
chrX:3,006,546-3,034,111
(GRCh38/hg38)
Size:
27,566 bases
Orientation:
Plus strand

Previous Assembly
chrX:2,924,587-2,952,152
(GRCh37/hg19 by Entrez Gene)
Size:
27,566 bases
Orientation:
Plus strand

chrX:2,924,654-2,951,612
(GRCh37/hg19 by Ensembl)
Size:
26,959 bases
Orientation:
Plus strand

Genomic View for ARSH Gene

Genes around ARSH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSH Gene

Proteins for ARSH Gene

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

    Protein Symbol:
    Q5FYA8-ARSH_HUMAN
    Recommended name:
    Arylsulfatase H
    Protein Accession:
    Q5FYA8

    Protein attributes for ARSH Gene

    Size:
    562 amino acids
    Molecular mass:
    63525 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for ARSH Gene

Selected DME Specific Peptides for ARSH Gene

Q5FYA8:
  • AFLTGRYP
  • GMGGWEGGIRVPGIFRWP
  • HDPPLLFD
  • HEFLFHYC
  • NGIYKGG
  • WEGGIRVPG

Post-translational modifications for ARSH Gene

  • 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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARSH Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ARSH Gene

Gene Families for ARSH Gene

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

Protein Domains for ARSH Gene

Suggested Antigen Peptide Sequences for ARSH Gene

GenScript: Design optimal peptide antigens:
  • Arylsulfatase H (ARSH_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5FYA8

UniProtKB/Swiss-Prot:

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

Function for ARSH Gene

Enzyme Numbers (IUBMB) for ARSH Gene

Gene Ontology (GO) - Molecular Function for ARSH 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 ARSH: view
genes like me logo Genes that share phenotypes with ARSH: view

Inhibitory RNAs for research

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

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ARSH Gene

Localization for ARSH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSH Gene

Membrane. Multi-pass membrane protein.

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 ARSH gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
lysosome 3
mitochondrion 1
nucleus 1
cytosol 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ARSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ARSH: view

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

Pathways & Interactions for ARSH Gene

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

Interacting Proteins for ARSH Gene

Gene Ontology (GO) - Biological Process for ARSH Gene

None

No data available for SIGNOR curated interactions for ARSH Gene

Drugs & Compounds for ARSH Gene

(45) Drugs for ARSH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959

(32) Additional Compounds for ARSH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARSH: view

Transcripts for ARSH Gene

mRNA/cDNA for ARSH Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 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 ARSH

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

No ASD Table

Relevant External Links for ARSH Gene

GeneLoc Exon Structure for
ARSH

Expression for ARSH Gene

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

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

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x12.3), Esophagus - Mucosa (x9.1), and Minor Salivary Gland (x5.5).

Protein differential expression in normal tissues from HIPED for ARSH Gene

This gene is overexpressed in Serum (69.0).

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



Protein tissue co-expression partners for ARSH Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARSH

SOURCE GeneReport for Unigene cluster for ARSH Gene:

Hs.351533
genes like me logo Genes that share expression patterns with ARSH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSH Gene

Orthologs for ARSH Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARSH 29 30
  • 98.99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARSH 29 30
  • 84.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARSH 29 30
  • 77.54 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARSH 30
  • 75 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARSH 30
  • 70 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 59 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii arsh 30
  • 49 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sul-2 30
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 34 (a)
ManyToMany
Species where no ortholog for ARSH 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)
  • Chicken (Gallus gallus)
  • 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)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ARSH Gene

ENSEMBL:
Gene Tree for ARSH (if available)
TreeFam:
Gene Tree for ARSH (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARSH: view image
Alliance of Genome Resources:
Additional Orthologs for ARSH

Paralogs for ARSH Gene

(5) SIMAP similar genes for ARSH Gene using alignment to 1 proteins:

  • ARSH_HUMAN
genes like me logo Genes that share paralogs with ARSH: view

Variants for ARSH Gene

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

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs142811205 Likely Benign: not provided 3,015,192(+) G/A
NM_001011719.1(ARSH):c.563G>A (p.Arg188His)
MISSENSE
rs143359225 Benign: not provided 3,015,016(+) T/C
NM_001011719.1(ARSH):c.387T>C (p.Cys129=)
SYNONYMOUS
rs143533816 Likely Benign: not provided 3,015,057(+) T/G
NM_001011719.1(ARSH):c.428T>G (p.Val143Gly)
MISSENSE
rs146474927 Likely Benign: not provided 3,013,190(+) T/G
NM_001011719.1(ARSH):c.340+18T>G
INTRON
rs146832237 Benign: not provided 3,027,348(+) C/T
NM_001011719.1(ARSH):c.1072C>T (p.Arg358Cys)
MISSENSE

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

Variant ID Type Subtype PubMed ID
dgv16n29 CNV gain 16826518
esv2674359 CNV deletion 23128226
esv2758855 CNV gain 17122850
esv33241 CNV loss 17666407
esv34985 CNV gain 17911159

Variation tolerance for ARSH Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.16; 69.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSH Gene

Human Gene Mutation Database (HGMD)
ARSH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARSH
Leiden Open Variation Database (LOVD)
ARSH

SNP Genotyping and Copy Number Assays for research

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

Disorders for ARSH Gene

MalaCards: The human disease database

(21) MalaCards diseases for ARSH Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search ARSH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARSH

genes like me logo Genes that share disorders with ARSH: view

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

Publications for ARSH Gene

  1. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PMID: 16174644) Sardiello M … Ballabio A (Human molecular genetics 2005) 2 3 4 22
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. Expression of sulfotransferases and sulfatases in human breast cancer: impact on resveratrol metabolism. (PMID: 19747768) Miksits M … Jaeger W (Cancer letters 2010) 22
  4. Is maternal progesterone actually independent of the fetal steroids? (PMID: 19537920) Hill M … Stárka L (Physiological research 2010) 22
  5. Inhibitory effects of melatonin on sulfatase and 17beta-hydroxysteroid dehydrogenase activity and expression in glioma cells. (PMID: 20204307) González A … Cos S (Oncology reports 2010) 22

Products for ARSH Gene

Sources for ARSH Gene