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 pseudoa... See more...

Aliases for ARSD Gene

Aliases for ARSD Gene

  • Arylsulfatase D 2 3 4 5
  • ASD 3 4
  • Testis Tissue Sperm-Binding Protein Li 39a 3
  • EC 3.1.6.2 50
  • EC 3.1.6.- 4
  • ARSD 5

External Ids for ARSD Gene

Previous GeneCards Identifiers for ARSD Gene

  • GC0XM002129
  • GC0XM001993
  • GC0XM002353
  • GC0XM002420
  • GC0XM002818
  • 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 Legionnaire Disease. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSL.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARSD Gene

Genomics for ARSD Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH0XJ002927 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.5 548 2.8 CEBPA ATF3 POLR2A YY1 HOMEZ ZNF217 ELF1 FOXA2 CTBP1 SMAD4 ARSD HSALNG0136398 lnc-ARSE-2 CD99P1 piR-56580-050 GYG2
GH0XJ002894 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 8.6 +32.0 31970 5.8 NCOR1 CEBPA NFIC YY1 CEBPB MAX ZNF217 CTBP1 RXRA TAL1 HSALNG0136394 ARSH ARSD ARSL HSALNG0136395 GYG2
GH0XJ002888 Enhancer 0.9 Ensembl ENCODE 6.1 +38.2 38160 4.2 IKZF1 ZNF592 NFIC REST BHLHE40 PRDM10 CTCF RAD51 FOXK2 CAVIN1 HSALNG0136393-001 ARSD HSALNG0136393-002 GYG2
GH0XJ002901 Enhancer 0.6 Ensembl 5.6 +27.3 27348 1.2 ATF2 JUND ATF1 SP1 ZBTB21 L3MBTL2 JUN CREM CEBPB PTTG1 HSALNG0136395 ARSD ARSD-AS1 GYG2
GH0XJ002707 Enhancer 1.3 FANTOM5 CraniofacialAtlas dbSUPER 1.6 +222.0 222010 0.8 MXD4 BCL11A FOXA1 TARDBP BHLHE40 HOMEZ MAX ZNF217 EP300 GABPA ZBED1 DHRSX CD99 ARSD FJ601678-163 RF00017-7522 XG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARSD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ARSD

Genomic Locations for ARSD Gene

Latest Assembly
chrX:2,903,972-2,929,349
(GRCh38/hg38)
Size:
25,378 bases
Orientation:
Minus strand

Previous Assembly
chrX:2,822,013-2,847,380
(GRCh37/hg19 by Entrez Gene)
Size:
25,368 bases
Orientation:
Minus strand

chrX:2,822,011-2,847,392
(GRCh37/hg19 by Ensembl)
Size:
25,382 bases
Orientation:
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:
    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; 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 Asn347
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

Protein Domains for ARSD Gene

Suggested Antigen Peptide Sequences for ARSD Gene

GenScript: Design optimal peptide antigens:
  • Arylsulfatase D (ARSD_HUMAN)

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

Phenotypes From GWAS Catalog for ARSD Gene

Gene Ontology (GO) - Molecular Function for ARSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004065 arylsulfatase activity TAS,IBA 21873635
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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARSD

No data available for 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
endoplasmic reticulum 4
lysosome 4
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 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 --
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

Interacting Proteins for ARSD Gene

Gene Ontology (GO) - Biological Process for ARSD Gene

None

No data available for SIGNOR curated interactions for ARSD Gene

Drugs & Compounds for ARSD Gene

(8) Drugs for ARSD Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estrone Approved Pharma Estrogenic hormone 24
Estrone sulfate Approved Pharma 0
Water Approved Pharma 0
(4s)-4-{[(2s)-2-Amino-3-Oxopropyl]Sulfanyl}-L-Homoserinate Experimental Pharma Target 0
Aspartate Semialdehyde Experimental Pharma Target 0

(8) 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 (D18:1/24:0)
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

mRNA/cDNA for ARSD Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ARSD

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

Expression for ARSD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ARSD Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Liver(4.4)
  • Intestine(4.4)
  • Nervous system(2.5)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with ARSD: view

Primer products for research

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 29
  • 93.83 (n)
ARSD 30
  • 89 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ARSD 29 30
  • 79.5 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARSD 30
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARSD 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 70 (a)
OneToMany
ARSH 30
  • 65 (a)
OneToMany
-- 30
  • 63 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 64 (a)
OneToMany
-- 30
  • 61 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100494567 29
  • 60.62 (n)
Zebrafish
(Danio rerio)
Actinopterygii arsh 29 30
  • 60.98 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sul-2 30
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
ManyToMany
Species where no ortholog for ARSD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ARSD: view image
Alliance of Genome Resources:
Additional Orthologs for ARSD

Paralogs for ARSD Gene

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

  • ARSD_HUMAN
  • H0YMY1_HUMAN
  • H7C327_HUMAN

Pseudogenes.org Pseudogenes for ARSD Gene

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

Variants for ARSD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ARSD Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1220210716 Uncertain Significance: not provided 2,929,233(-) TG/T
NM_001669.4(ARSD):c.42del (p.Arg15fs)
FRAMESHIFT
rs138030490 Benign: not provided 2,909,889(-) C/T
NM_001669.4(ARSD):c.1226G>A (p.Gly409Glu)
MISSENSE
rs2228433 Benign: not provided 2,907,322(-) G/A
NM_001669.4(ARSD):c.1731C>T (p.Cys577=)
SYNONYMOUS
rs2229557 Benign: not provided 2,907,555(-) C/Tp.Val500Ile
NM_001669.4(ARSD):c.1498G>A (p.Val500Ile)
MISSENSE
rs373216270 Likely Benign: not provided 2,915,587(-) A/C
NM_001669.4(ARSD):c.969T>G (p.Gly323=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ARSD Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ARSD

SNP Genotyping and Copy Number Assays for research

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

Disorders for ARSD Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARSD Gene - From: COP and GCD

Disorder Aliases PubMed IDs
chondrodysplasia punctata, tibia-metacarpal type
  • chondrodysplasia punctata, mt type
legionnaire disease
  • legionnaire disease, susceptibility to
atrial septal defect 1
  • asd1
atrial septal defect 2
  • asd2
- 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
  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
  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
  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
  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

Products for ARSD Gene

Sources for ARSD Gene