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Aliases for ARSH Gene

Aliases for ARSH Gene

  • Arylsulfatase Family, Member H 2 3
  • ASH 3 4
  • Arylsulfatase H 2
  • EC 3.1.6.2 63
  • EC 3.1.6.- 4
  • Sulfatase 3
  • EC 3.1.6 63

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 mucopolysaccharidoses and x-linked chondrodysplasia punctata. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSJ.

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    No Data Available

neXtProt entry for ARSH Gene

Proteomics data for ARSH Gene at MOPED

Selected DME Specific Peptides for ARSH Gene

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:0003824 catalytic activity --
GO:0004065 arylsulfatase activity TAS 16174644
GO:0008484 sulfuric ester hydrolase activity --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARSH: view

Phenotypes for ARSH Gene

GenomeRNAi human phenotypes for ARSH:
genes like me logo Genes that share phenotypes with ARSH: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARSH

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , 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 4
lysosome 2
vacuole 2
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: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:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process 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

(36) Drugs for ARSH Gene - From: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Danazol Approved Pharma 15
Dopamine Approved Pharma Full agonist, Agonist 2814
Dydrogesterone Approved, Withdrawn Pharma Agonist 17
Estradiol Approved, Investigational Pharma Sex hormone 1057
Estrone Approved Pharma Agonist Estrogenic hormone 18

(41) Additional Compounds for ARSH Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17beta-Hydroxysteroid
1-menaphthyl sulfate
4-methylumbelliferyl sulfate
androstenediol
butyrate
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARSH

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 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



SOURCE GeneReport for Unigene cluster for ARSH Gene Hs.351533

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

Protein tissue co-expression partners for ARSH Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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
cow
(Bos Taurus)
Mammalia ARSH 35
  • 77.54 (n)
  • 81.28 (a)
ARSH 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARSH 35
  • 84.67 (n)
  • 88.95 (a)
ARSH 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARSH 35
  • 98.99 (n)
  • 98.22 (a)
ARSH 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSH 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARSH 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii arsh 36
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sul-2 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
ManyToMany
Species with no ortholog for ARSH:
  • 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 MAF
rs768941 -- 3,025,843(-) CTCAT(A/G)Caatt intron-variant
rs768942 -- 3,025,770(-) CACTT(C/T)GTTAG intron-variant
rs1454502 -- 3,013,603(-) CCCCC(C/G)GCCCC intron-variant
rs1454503 -- 3,013,503(-) AGTTT(C/T)CCATT intron-variant
rs1470938 -- 3,012,320(-) CCTCA(A/C)GTGAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2432e1 CNV Complex 17122850
esv34985 CNV Gain 17911159
essv3621 CNV CNV 17122850
esv33241 CNV Loss 17666407
esv2674359 CNV Deletion 23128226
dgv13n29 CNV Gain 16826518

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

HapMap Linkage Disequilibrium report
ARSH
Human Gene Mutation Database (HGMD)
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
mucopolysaccharidoses
x-linked chondrodysplasia punctata
  • chondrodystrophia calcificans congenita
ketothiolase deficiency
  • alpha-methylacetoaceticaciduria
mucopolysaccharidosis type vi
  • mucopolysaccharidosis vi
mucopolysaccharidosis ii
  • hunter syndrome
- elite association
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 23 67
  2. Intratumoral estrogen disposition in breast cancer. (PMID: 20215536) Haynes B.P. … Dowsett M. (Clin. Cancer Res. 2010) 23 67
  3. Circulating estrogens in endometrial cancer cases and their relationship with tissular expression of key estrogen biosynthesis and metabolic pathways. (PMID: 20371658) LAcpine J. … Guillemette C. (J. Clin. Endocrinol. Metab. 2010) 23 67
  4. 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) 23 67
  5. Sulfatase activities towards the regulation of cell metabolism and signaling in mammals. (PMID: 20165970) Buono M. … Cosma M.P. (Cell. Mol. Life Sci. 2010) 23 67

Products for ARSH Gene

Sources for ARSH Gene

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