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Aliases for ARSH Gene

Aliases for ARSH Gene

  • Arylsulfatase Family Member H 2 3 5
  • Arylsulfatase H 2 3
  • ASH 3 4
  • Arylsulfatase Family, Member H 2
  • EC 3.1.6.2 61
  • EC 3.1.6.- 4
  • Sulfatase 3
  • EC 3.1.6 61

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 Mucopolysaccharidosis Type Vi and Mucopolysaccharidosis Iv. Among its related pathways are Metabolism and Sphingolipid metabolism. 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 UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSH Gene

Genomics for ARSH Gene

Regulatory Elements for ARSH Gene

Enhancers for ARSH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XF002783 0.3 FANTOM5 14.6 -222.9 -222901 0.3 MEF2D RAD51 POLR2A EED IKZF1 ZNF512 ARSH GYG2 XG
GH0XF002894 0.8 FANTOM5 Ensembl ENCODE 13.5 -109.2 -109235 5.8 HDAC1 PKNOX1 ATF1 RAD21 YY1 GATA2 ZNF143 CREM ZNF654 ZNF680 ARSH ARSD ARSE ARSD-AS1 PIR48029
GH0XF003026 1 ENCODE 8.5 +19.8 19762 0.2 PKNOX1 DPF2 FOS ARSH GC0XP003033
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARSH on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ARSH Gene

Chromosome:
X
Start:
3,006,613 bp from pter
End:
3,033,571 bp from pter
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

Protein Domains for ARSH Gene

Suggested Antigen Peptide Sequences for ARSH Gene

GenScript: Design optimal peptide antigens:

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: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

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , 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
Jensen Localization Image for ARSH Gene COMPARTMENTS Subcellular localization image for ARSH gene
Compartment Confidence
endoplasmic reticulum 5
lysosome 4
vacuole 4
plasma membrane 3
cytosol 1
extracellular 1
peroxisome 1

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

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

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

No data available for SIGNOR curated interactions for ARSH Gene

Drugs & Compounds for ARSH Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(37) 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) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARSH Gene

Arylsulfatase family, member H:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ARSH Gene

GeneLoc Exon Structure for
ARSH
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for ARSH Gene



Protein tissue co-expression partners for ARSH Gene

NURSA nuclear receptor signaling pathways regulating expression of ARSH Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.99 (n)
dog
(Canis familiaris)
Mammalia ARSH 34 35
  • 84.67 (n)
cow
(Bos Taurus)
Mammalia ARSH 34 35
  • 77.54 (n)
oppossum
(Monodelphis domestica)
Mammalia ARSH 35
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARSH 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 59 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii arsh 35
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sul-2 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
ManyToMany
Species where no ortholog for ARSH 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)
  • 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 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)

Paralogs for ARSH Gene

Paralogs for ARSH Gene

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

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

Variants for ARSH Gene

Sequence variations from dbSNP and Humsavar for ARSH Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs10871872 -- 3,032,165(+) TGTAA(A/T)TCCAG intron-variant
rs10871873 -- 3,032,176(+) CTACT(C/T)GGGAG intron-variant
rs111323568 -- 3,023,051(+) TAAAA(A/T)AATGA intron-variant
rs111335377 -- 3,027,329(+) ATGGG(A/G)GGATG reference, synonymous-codon
rs111381444 -- 3,005,398(+) TGAGA(C/G/T)AGGGT upstream-variant-2KB

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)

Relevant External Links for ARSH Gene

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

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

Disorders for ARSH Gene

MalaCards: The human disease database

(17) MalaCards diseases for ARSH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis type vi
  • mucopolysaccharidosis vi
mucopolysaccharidosis iv
  • chondroosteodystrophy
multiple sulfatase deficiency
  • mucosulfatidosis
mucopolysaccharidosis ii
  • mucopolysaccharidosis, type ii
metachromatic leukodystrophy
  • arylsulfatase a deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ARSH in MalaCards View complete list of genes associated with diseases

Relevant External Links for ARSH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Hum. Mol. Genet. 2005) 2 3 4 22 64
  2. In vivo inhibition of the estrogen sulfatase enzyme and growth of DMBA-induced mammary tumors by melatonin. (PMID: 20370689) GonzA!lez A. … Cos S. (Curr Cancer Drug Targets 2010) 22 64
  3. Is maternal progesterone actually independent of the fetal steroids? (PMID: 19537920) Hill M. … StA!rka L. (Physiol Res 2010) 22 64
  4. Sulfatase activities towards the regulation of cell metabolism and signaling in mammals. (PMID: 20165970) Buono M. … Cosma M.P. (Cell. Mol. Life Sci. 2010) 22 64
  5. 17beta-hydroxysteroid dehydrogenase type 1 stimulates breast cancer by dihydrotestosterone inactivation in addition to estradiol production. (PMID: 20172961) Aka J.A. … Lin S.X. (Mol. Endocrinol. 2010) 22 64

Products for ARSH Gene

Sources for ARSH Gene

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