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Aliases for ARSD Gene

Aliases for ARSD Gene

  • Arylsulfatase D 2 3 5
  • ASD 3 4
  • Testis Tissue Sperm-Binding Protein Li 39a 3
  • EC 63
  • EC 3.1.6.- 4

External Ids for ARSD Gene

Previous GeneCards Identifiers for ARSD Gene

  • GC0XM002129
  • GC0XM001993
  • GC0XM002353
  • GC0XM002420
  • GC0XM000764

Summaries for ARSD Gene

Entrez Gene Summary for ARSD Gene

  • The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correct composition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to the lysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogene has been identified in the pseudoautosomal region of chromosome Y. [provided by RefSeq, Jul 2011]

GeneCards Summary for ARSD Gene

ARSD (Arylsulfatase D) is a Protein Coding gene. Diseases associated with ARSD include Chondrodysplasia Punctata, Tibia Metacarpal Type and Amebiasis. Among its related pathways are Sphingolipid metabolism and Estrogen Metabolism Pathway. 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 ARSD Gene

Genomics for ARSD Gene

Regulatory Elements for ARSD Gene

Enhancers for ARSD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ARSD on UCSC Golden Path with GeneCards custom track

Promoters for ARSD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARSD on UCSC Golden Path with GeneCards custom track

Genomic Location for ARSD Gene

2,903,970 bp from pter
2,929,375 bp from pter
25,406 bases
Minus strand

Genomic View for ARSD Gene

Genes around ARSD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSD Gene

Proteins for ARSD Gene

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

    Protein Symbol:
    Recommended name:
    Arylsulfatase D
    Protein Accession:
    Secondary Accessions:
    • Q9UHJ8

    Protein attributes for ARSD Gene

    593 amino acids
    Molecular mass:
    64860 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available
    • Sequence=CAA58555.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for ARSD Gene


neXtProt entry for ARSD Gene

Proteomics data for ARSD Gene at MOPED

Selected DME Specific Peptides for ARSD Gene

Post-translational modifications for ARSD 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.
  • Glycosylation at Asn 61, Asn 128, and Asn 347
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSD Gene

Domains & Families for ARSD Gene

Gene Families for ARSD Gene

Protein Domains for ARSD Gene

Suggested Antigen Peptide Sequences for ARSD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for ARSD Gene

Molecular function for ARSD Gene

GENATLAS Biochemistry:
arylsulfatase D,X-linked,escaping inactivation,highly homologous to ARSC1 with two alternatively spliced isoforms

Enzyme Numbers (IUBMB) for ARSD Gene

genes like me logo Genes that share phenotypes with ARSD: view

Animal Model Products

miRNA for ARSD Gene

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARSD Gene

Localization for ARSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSD Gene


Subcellular locations from

Jensen Localization Image for ARSD Gene COMPARTMENTS Subcellular localization image for ARSD gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
endoplasmic reticulum 4
cytosol 1
golgi apparatus 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ARSD Gene

Pathways & Interactions for ARSD Gene

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

Interacting Proteins for ARSD Gene

Gene Ontology (GO) - Biological Process for ARSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
GO:0043687 post-translational protein modification TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ARSD: view

No data available for SIGNOR curated interactions for ARSD Gene

Drugs & Compounds for ARSD Gene

(2) Drugs for ARSD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estrone Approved Pharma Agonist Estrogenic hormone 19
calcium Nutra 0

(11) Additional Compounds for ARSD Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • 3-O-Sulphogalactosylceramide
estrone sulfate
  • Conestoral
  • Estrogenic substances
  • Estrone
  • Estrone hydrogen sulfate
  • Estrone hydrogen sulphate
Galactosylceramide (d18:1/16:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:0)
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
Galactosylceramide (d18:1/18:1(9Z))
  • a-GalCer
  • alpha-GalCer
  • Cerebroside
  • D-Galactosyl-N-acylsphingosine
  • D-Galactosylceramide
genes like me logo Genes that share compounds with ARSD: view

Transcripts for ARSD Gene

Unigene Clusters for ARSD Gene

Arylsulfatase D:
Representative Sequences:

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
SP1: - - - -
SP2: -
SP4: - - - - - - - - - - - -
SP5: -

Relevant External Links for ARSD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARSD Gene

mRNA expression in normal human tissues for ARSD Gene

Protein differential expression in normal tissues from HIPED for ARSD Gene

This gene is overexpressed in Nasal epithelium (61.9).

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

SOURCE GeneReport for Unigene cluster for ARSD Gene Hs.528631

mRNA Expression by UniProt/SwissProt for ARSD Gene

Tissue specificity: Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart.
genes like me logo Genes that share expression patterns with ARSD: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for ARSD Gene

Orthologs for ARSD Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSD Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia ARSD 35
  • 79.5 (n)
  • 81.44 (a)
  • 80 (a)
(Pan troglodytes)
Mammalia LOC745720 35
  • 93.83 (n)
  • 88.55 (a)
  • 89 (a)
(Monodelphis domestica)
Mammalia ARSD 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia ARSD 36
  • 78 (a)
(Gallus gallus)
Aves -- 36
  • 70 (a)
-- 36
  • 63 (a)
  • 65 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 61 (a)
-- 36
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494567 35
  • 60.62 (n)
  • 58.97 (a)
(Danio rerio)
Actinopterygii arsh 35
  • 60.98 (n)
  • 55.05 (a)
arsh 36
  • 51 (a)
(Caenorhabditis elegans)
Secernentea sul-2 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
Species with no ortholog for ARSD:
  • 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)
  • cow (Bos Taurus)
  • 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)
  • wheat (Triticum aestivum)

Evolution for ARSD Gene

Gene Tree for ARSD (if available)
Gene Tree for ARSD (if available)

Paralogs for ARSD Gene

Paralogs for ARSD Gene

(4) SIMAP similar genes for ARSD Gene using alignment to 3 proteins: Pseudogenes for ARSD Gene

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

Variants for ARSD Gene

Sequence variations from dbSNP and Humsavar for ARSD Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs211653 - 2,917,996(+) AGACA(C/G/T)AGAAG reference, missense
rs2229557 - 2,907,555(-) GAGGC(A/G)TCTGC reference, missense, utr-variant-3-prime
rs2228431 - 2,907,362(-) TTCCA(C/T)GAGCA reference, missense, utr-variant-3-prime
rs747729275 -- 2,925,065(+) TAGGG(C/T)TTCAA intron-variant
rs747784695 -- 2,930,856(+) GTTGC(C/T)TAAGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv2432e1 CNV Complex 17122850
esv34985 CNV Gain 17911159
nsv526612 CNV Loss 19592680
essv21575 CNV CNV 17122850
essv3621 CNV CNV 17122850
esv32931 CNV Loss 17666407

Variation tolerance for ARSD Gene

Residual Variation Intolerance Score: 97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.00; 68.41% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for ARSD Gene

Disorders for ARSD Gene

MalaCards: The human disease database

(2) MalaCards diseases for ARSD Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia punctata, tibia metacarpal type
  • chondrodysplasia punctata, mt type
  • amoebiasis
- elite association - COSMIC cancer census association via MalaCards
Search ARSD in MalaCards View complete list of genes associated with diseases

Relevant External Links for ARSD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with ARSD: view

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

Publications for ARSD Gene

  1. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. (PMID: 7720070) Franco B. … Ballabio A. (Cell 1995) 2 3 4 67
  2. Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. (PMID: 14699613) Savarirayan R. … Sheffield L.J. (Am. J. Med. Genet. A 2004) 3 23
  3. Expression profiling of human sulfotransferase and sulfatase gene superfamilies in epithelial tissues and cultured cells. (PMID: 11027669) Dooley T.P. … Wilborn T.W. (Biochem. Biophys. Res. Commun. 2000) 3 23
  4. Arylsulfatase D gene in Xp22.3 encodes two protein isoforms. (PMID: 11177574) Urbitsch P. … Vogt P.H. (DNA Cell Biol. 2000) 3 23
  5. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. (PMID: 9192838) Puca A.A. … Franco B. (Genomics 1997) 3 23

Products for ARSD Gene

Sources for ARSD Gene