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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 3.1.6.2 56
  • 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. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSE.

Additional gene information for ARSD Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSD Gene

Genomics for ARSD Gene

GeneHancer (GH) Regulatory Elements for ARSD Gene

Promoters and enhancers for ARSD 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
GH0XI002927 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.7 666 2.6 CLOCK FOXA2 ARID4B SIN3A DMAP1 THRB ZNF48 YY1 GTF3C2 ELK1 ARSD CD99P1 PIR36938
GH0XI002894 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 8.6 +32.0 31996 5.8 PKNOX1 ATF1 ARNT NEUROD1 YY1 TCF12 FOS ATF7 RXRA REST ARSH ARSD ARSE ARSD-AS1 PIR48029
GH0XI002888 Enhancer 1 Ensembl ENCODE 6.1 +38.6 38631 5.1 HDAC1 PKNOX1 ATF1 NFRKB CAVIN1 USF2 REST ZEB2 ZNF592 MEF2D ARSD PIR48029 ARSD-AS1 GC0XP002857
GH0XI002703 Enhancer 1.4 FANTOM5 Ensembl dbSUPER 1.6 +222.2 222174 8 PKNOX1 CLOCK FOXA2 ARID4B SIN3A ZNF143 ATF7 FOS RUNX3 RXRA ZBED1 CD99 DHRSX ARSD XG
GH0XI002962 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 0.3 -34.4 -34399 3.4 DRAP1 GATAD2A TFAP4 PKNOX1 SAP130 RNF2 CEBPG REST KAT8 HNF1A ARSE ARSD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARSD on UCSC Golden Path with GeneCards custom track

Genomic Locations for ARSD Gene

Genomic Locations for ARSD Gene
chrX:2,903,970-2,929,375
(GRCh38/hg38)
Size:
25,406 bases
Orientation:
Minus strand
chrX:2,822,011-2,847,392
(GRCh37/hg19)

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:
    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;
    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

Selected DME Specific Peptides for ARSD Gene

P51689:
  • HEFLFHYC
  • NGIYKGG
  • WEGGIRVPG

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 posLast=347347
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSD Gene

Domains & Families for ARSD Gene

Gene Families for ARSD Gene

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

Suggested Antigen Peptide Sequences for ARSD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P51689

UniProtKB/Swiss-Prot:

ARSD_HUMAN :
  • Belongs to the sulfatase family.
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

Gene Ontology (GO) - Molecular Function for ARSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004065 arylsulfatase activity TAS 7720070
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 ARSD: view
genes like me logo Genes that share phenotypes with ARSD: view

Clone Products

No data available for Phenotypes From GWAS Catalog , 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

Lysosome.

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 ARSD gene
Compartment Confidence
extracellular 5
lysosome 5
endoplasmic reticulum 4
plasma membrane 1
nucleus 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Lipid droplets (2)
  • Vesicles (2)
See all subcellular structures

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:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA,IDA 23376485
genes like me logo Genes that share ontologies with ARSD: view

Pathways & Interactions for ARSD Gene

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

Gene Ontology (GO) - Biological Process for ARSD 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 ARSD: view

No data available for SIGNOR curated interactions for ARSD Gene

Drugs & Compounds for ARSD Gene

(4) Drugs for ARSD Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estrone Approved Pharma Agonist Estrogenic hormone 22
Estrone sulfate Approved Pharma 0
Water Approved Pharma 0
calcium Approved Nutra 0

(9) 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
151122-71-3
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
Galactosylceramide (d18:1/20:0)
  • 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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ARSD Gene



NURSA nuclear receptor signaling pathways regulating expression of ARSD Gene:

ARSD

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.

Evidence on tissue expression from TISSUES for ARSD Gene

  • Kidney(4.4)
  • Liver(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with ARSD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia LOC745720 33
  • 93.83 (n)
ARSD 34
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARSD 33 34
  • 79.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARSD 34
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSD 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 70 (a)
OneToMany
ARSH 34
  • 65 (a)
OneToMany
-- 34
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
OneToMany
-- 34
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494567 33
  • 60.62 (n)
zebrafish
(Danio rerio)
Actinopterygii arsh 33 34
  • 60.98 (n)
worm
(Caenorhabditis elegans)
Secernentea sul-2 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
ManyToMany
Species where no ortholog for ARSD 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)
  • 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

(4) 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 Variation AA Info Type
rs1000070987 -- 2,929,980(-) C/T upstream_transcript_variant
rs1000145381 -- 2,926,708(-) T/C intron_variant
rs1000682894 -- 2,912,675(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000897865 -- 2,923,173(-) C/T intron_variant
rs1001189832 -- 2,910,245(-) G/ genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2758855 CNV gain 17122850
esv32931 CNV loss 17666407
esv34985 CNV gain 17911159
esv3573434 CNV loss 25503493
nsv1076698 CNV duplication 25765185
nsv1110591 CNV duplication 24896259
nsv1124491 CNV deletion 24896259
nsv1147251 CNV duplication 26484159
nsv526612 CNV loss 19592680

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)

Additional Variant Information for ARSD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARSD

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARSD Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARSD Gene - From: GeneCards

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

Additional Disease Information for ARSD

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. Arylsulfatase D gene in Xp22.3 encodes two protein isoforms. (PMID: 11177574) Urbitsch P … Vogt PH (DNA and cell biology 2000) 3 4 22 58
  2. 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 58
  3. Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. (PMID: 14699613) Savarirayan R … Sheffield LJ (American journal of medical genetics. Part A 2004) 3 22 58
  4. Expression profiling of human sulfotransferase and sulfatase gene superfamilies in epithelial tissues and cultured cells. (PMID: 11027669) Dooley TP … Wilborn TW (Biochemical and biophysical research communications 2000) 3 22 58
  5. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. (PMID: 9192838) Puca AA … Franco B (Genomics 1997) 3 22 58

Products for ARSD Gene

Sources for ARSD Gene

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