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Aliases for ARSD Gene

Aliases for ARSD Gene

  • Arylsulfatase D 2 3
  • ASD 3 4
  • EC 3.1.6.2 64
  • EC 3.1.6.- 4

External Ids for ARSD Gene

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 gastric dilatation and metachromatic leukodystrophy. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include 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

Genomic Location for ARSD Gene

Start:
2,903,970 bp from pter
End:
2,929,375 bp from pter
Size:
25,406 bases
Orientation:
Minus strand

Genomic View for ARSD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ARSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARSD Gene

No data available for Regulatory Elements for ARSD Gene

Proteins for ARSD Gene

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

    Protein Symbol:
    P51689-ARSD_HUMAN
    Recommended name:
    Arylsulfatase D
    Protein Accession:
    P51689
    Secondary Accessions:
    • Q9UHJ8

    Protein attributes for ARSD Gene

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

    Alternative splice isoforms for ARSD Gene

    UniProtKB/Swiss-Prot:

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 Asn61, Asn128, and Asn347

Other Protein References for ARSD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ARSD Gene

Gene Families for ARSD Gene

HGNC:
  • ARS :Arylsulfatase family

Protein Domains for ARSD Gene

UniProtKB/Swiss-Prot:

ARSD_HUMAN
Family:
  • Belongs to the sulfatase family.:
    • P51689
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

Gene Ontology (GO) - Molecular Function for ARSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004065 arylsulfatase activity TAS 7720070
GO:0008484 sulfuric ester hydrolase activity --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARSD: view

miRNA for ARSD Gene

miRTarBase miRNAs that target ARSD

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ARSD Gene

Localization for ARSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSD Gene

Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARSD Gene COMPARTMENTS Subcellular localization image for ARSD gene
Compartment Confidence
endoplasmic reticulum 4
lysosome 3
vacuole 3
extracellular 2
golgi apparatus 1
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ARSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ARSD: view

Pathways 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: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 ARSD: view

Compounds for ARSD Gene

(13) HMDB Compounds for ARSD Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • Sulfatide (d18:1/24:0)
151122-71-3
Calcium
  • Ca
7440-70-2
Estrone
  • (+)-Estrone
53-16-7
Estrone sulfate
  • Conestoral
481-97-0
Galactosylceramide (d18:1/16:0)
  • Galactocerebroside
Not Available
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: -
SP3:
SP4: - - - - - - - - - - - -
SP5: -

Relevant External Links for ARSD Gene

GeneLoc Exon Structure for
ARSD
ECgene alternative splicing isoforms for
ARSD

Expression for ARSD Gene

mRNA expression in normal human tissues for ARSD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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

P51689-ARSD_HUMAN
Tissue specificity: Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart
genes like me logo Genes that share expressions with ARSD: view

Orthologs for ARSD Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARSD 37
  • 89 (a)
OneToOne
LOC745720 36
  • 93.83 (n)
  • 88.55 (a)
dog
(Canis familiaris)
Mammalia ARSD 36
  • 79.5 (n)
  • 81.44 (a)
ARSD 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSD 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARSD 37
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 37
  • 70 (a)
OneToMany
-- 37
  • 63 (a)
OneToMany
ARSH 37
  • 65 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 61 (a)
OneToMany
-- 37
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494567 36
  • 60.62 (n)
  • 58.97 (a)
zebrafish
(Danio rerio)
Actinopterygii arsh 36
  • 60.98 (n)
  • 55.05 (a)
arsh 37
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sul-2 37
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ARSD (if available)
TreeFam:
Gene Tree for ARSD (if available)

Paralogs for ARSD Gene

Paralogs for ARSD Gene

Selected SIMAP similar genes for ARSD Gene using alignment to 3 proteins:

Pseudogenes.org 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 MAF
rs9334 -- 2,904,212(+) GCATG(C/T)TGAGA utr-variant-3-prime
rs169829 -- 2,916,032(+) gaggc(C/T)gaggt intron-variant
rs186112 -- 2,916,393(+) ctcaa(A/G)aggct intron-variant
rs188430 -- 2,916,556(+) aaaaa(A/G)aatga intron-variant
rs211647 -- 2,913,960(+) ctgcc(A/G/T)caaga intron-variant, utr-variant-3-prime

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

Relevant External Links for ARSD Gene

HapMap Linkage Disequilibrium report
ARSD
Locus Specific Mutation Databases (LSDB)
ARSD

Disorders for ARSD Gene

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

No data available for UniProtKB/Swiss-Prot 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
  2. Arylsulfatase D gene in Xp22.3 encodes two protein isoforms. (PMID: 11177574) Urbitsch P. … Vogt P.H. (DNA Cell Biol. 2000) 3 4 23
  3. 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
  4. Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. (PMID: 8845834) Meroni G. … Ballabio A. (Hum. Mol. Genet. 1996) 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

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ARSD
    • 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
    • Predesigned siRNA for gene silencing in human,mouse,rat for ARSD
    • Block miRNA regulation of ARSD using miScript Target Protectors

    Sources for ARSD Gene

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