ARSD Gene
protein-coding GIFtS: 55
GCID: GC0XM002818
|
|
arylsulfatase D
| |
Aliases
for ARSD gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Arylsulfatase D1 2 | | ASD2 3 | | EC 3.1.6.-3 | | EC 3.1.6.28 |
Export aliases for ARSD gene to outside databasesPrevious GC identifers: GC0XM002129 GC0XM001993 GC0XM002353 GC0XM002420 GC0XM000764 |
Summaries
for ARSD gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ARSD:
The protein encoded by this gene is a member of the sulfatase family. Sulfatases are essential for the correctcomposition of bone and cartilage matrix. The encoded protein is postranslationally glycosylated and localized to thelysosome. This gene is located within a cluster of similar arylsulfatase genes on chromosome X. A related pseudogenehas been identified in the pseudoautosomal region of chromosome Y. (provided by RefSeq, Jul 2011)
|
Genomic Views
for ARSD gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_167197.1
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for ARSD
Other transcription factors
Search SABiosciences Chromatin IP Primers for ARSD
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ARSD |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xp22.3 Ensembl cytogenetic band: Xp22.33 HGNC cytogenetic band: Xp22.3ARSD Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM002818: view genomic region
(about GC identifiers)
Start:
|
2,822,011 bp from pter |
End:
|
2,847,392 bp from pter |
Size:
|
25,382 bases |
Orientation:
|
minus strand |
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Proteins
for ARSD gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ARSD_HUMAN, P51689 (See
protein sequence)Recommended Name: Arylsulfatase D precursor Size: 593 amino acids; 64860 Da
Cofactor: Binds 1 calcium ion per subunit (By similarity)
Subcellular location: Lysosome (Potential)
Sequence caution: Sequence=CAA58555.1; Type=Frameshift; Positions=Several;
Secondary accessions: Q9UHJ8Alternative splicing: 3 isoforms: P51689-1 P51689-2 P51689-3 Explore the universe of human proteins at neXtProt for ARSD: NX_P51689
Post-translational modifications:
The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotesand of a cysteine residue in eukaryotes, is critical for catalytic activity (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P51689
3 DME Specific Peptides for ARSD (P51689)
ARSD Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001660.2
ENSEMBL proteins: ENSP00000370546 ENSP00000409180 ENSP00000453789 Reactome Protein details: P51689
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005764 | lysosome |
IEA | -- | | GO:0005788 | endoplasmic reticulum lumen |
TAS | -- |
ARSD for ontologies About GeneDecksing
ARSD Antibody Products:
Assay Products for ARSD: |
Protein
Domains /
Families
for ARSD gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ARSD for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P51689ProtoNet protein and cluster: P51689 1 Blocks protein family: IPB000917 Sulfatase
UniProtKB/Swiss-Prot: ARSD_HUMAN, P51689Similarity: Belongs to the sulfatase family |
Function
for ARSD gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
Genatlas biochemistry entry for ARSD:arylsulfatase D,X-linked,escaping inactivation,highly homologous to ARSC1 with two alternatively spliced isoforms
Enzyme Numbers (IUBMB): EC 3.1.6.-1 EC 3.1.6.22
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARSD
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARSD (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): ARSD (NM_001669) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARSD | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARSD |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSD |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ARSD for ontologies About GeneDecksing
|
Pathways & Interactions
for ARSD gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Sphingolipid metabolism | | | 2 | Metabolism | | | 3 | PTM: gamma carboxylation, hypusine formation and arylsulfatase activation | | | 4 | Asparagine N-linked glycosylation | | | 5 | Estrogen metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for ARSD
5/8 
Reactome Pathways for ARSD (see all 8)
ARSD for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARSD
STRING Interaction
Network Preview (showing 5 interactants - click image to see 11)
5/11 Interacting proteins for ARSD (ENSP000003705464) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006644 | phospholipid metabolic process |
TAS | -- | | GO:0006665 | sphingolipid metabolic process |
TAS | -- | | GO:0006687 | glycosphingolipid metabolic process |
TAS | -- | | GO:0043687 | post-translational protein modification |
TAS | -- | | GO:0044267 | cellular protein metabolic process |
TAS | -- |
ARSD for ontologies About GeneDecksing
|
Drugs & Compounds
for ARSD gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ARSD
10/13 HMDB Compounds for ARSD (see all 13) About this table
Search CenterWatch for drugs/clinical trials and news about ARSD
|
Transcripts
for ARSD gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ARSD gene (2 alternative transcripts): NM_001669.3 NM_009589.2 Unigene Cluster for ARSD: Arylsulfatase D Hs.528631 [show with all ESTs]Unigene Representative Sequence: NM_0016697 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000381154(uc004cqy.3) ENST00000458014 ENST00000495294 ENST00000217890
ENST00000481340 ENST00000494870(uc004crb.4) ENST00000559324
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARSD
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARSD (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): ARSD (NM_001669) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARSD | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARSD |
Additional cDNA sequence: AF160499.1 AK021472.1 AK055239.1 AK314479.1 BC020229.1 X83572.1 7 DOTS entries: DT.216075 DT.110587 DT.100019920 DT.95154198 DT.92444601 DT.100846272 DT.121308743 24/335 AceView cDNA sequences (see all 335): AI128344 AW242285 AI801393 C00526 AI810868 AI240893 AI683233 AI097604 BX091647 CK821513 BF197551 R64678 BM855048 BM678192 BM675131 AI299724 AU105235 BF003050 X83573 AI738924 BF593477 AI360999 AI679510 N51378
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for ARSD About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | · | 11c |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | - | | - | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | - | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ARSD
|
Expression
for ARSD gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ARSD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGTGTTTCT
About this image
See ARSD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARSD
SOURCE GeneReport for Unigene cluster: Hs.528631
UniProtKB/Swiss-Prot: ARSD_HUMAN, P51689Tissue specificity: Expressed in the pancreas, kidney, liver, lung, placenta, brain and heart
SABiosciences Custom PCR Arrays for ARSD
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARSD
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat ARSD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARSD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARSD | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSD |
Orthologs
for ARSD gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for ARSD gene from 5/13 species (see all 13) About this table
ENSEMBL Gene Tree for ARSD (if available)
TreeFam Gene Tree for ARSD (if available) |
Paralogs
for ARSD gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ARSD gene
- ARSF2 ARSJ2 ARSI2 ARSG2 ARSA2 ARSH2 STS2 ARSB2
- GALNS2 ARSE2
5 SIMAP similar genes for ARSD using alignment to 3 protein entries: ARSD_HUMAN (see all proteins):ARSH ARSE ARSF STS GALNS
ARSD for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for ARSD
PGOHUM00000233955
|
Genomic Variants
for ARSD gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ARSD (2822011 - 2847392 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 15 variations for ARSD
8 CNVs: 96408 3260 8293 4142 83281 96411 7777 96407
7 Indels: 96409 83280 96412 83283 83279 83282 96410
Locus Specific Mutation Databases (LSDB): ARSD
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARSD |
|
Disorders
/ Diseases
for ARSD gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ARSD for disorders About GeneDecksing
OMIM gene information: 300002
OMIM disorders: --
13  diseases for ARSD: About MalaCardschondrodysplasia punctata, tibia metacarpal type chondrodysplasia punctata spinal stenosis spondylocostal dysostosis
metachromatic leukodystrophy craniometaphyseal dysplasia chondrodysplasia dysostosis
mucopolysaccharidosis gastric dilatation leukodystrophy tuberculosis
mycobacterium tuberculosis
4 diseases from the University of Copenhagen DISEASES database for ARSD:Metachromatic leukodystrophy Mucosulfatidosis Mucopolysaccharidosis Gastric dilatation Export disorders for ARSD gene to outside databases
|
Publications
for ARSD gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ARSD gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with ARSD) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. (PubMed id 7720070)1, 2, 3 Franco B.... Ballabio A. (1995)
- Arylsulfatase D gene in Xp22.3 encodes two protein isoforms. (PubMed id 11177574)1, 2, 9 Urbitsch P.... Vogt P.H. (2000)
- Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. (PubMed id 9192838)1, 9 Puca A.A.... Franco B. (1997)
- Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. (PubMed id 8845834)1, 9 Meroni G....Ballabio A. (1996)
- Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. (PubMed id 14699613)1, 9 Savarirayan R....Sheffield L.J. (2004)
- Expression profiling of human sulfotransferase and sulfatase gene superfamilies in epithelial tissues and cultured cells. (PubMed id 11027669)1, 9 Dooley T.P....Wilborn T.W. (2000)
- Comparative mapping of Xp22 genes in hominoids--evolutionary linear instability of their Y homologues. (PubMed id 9246409)1, 9 Glaser B....Schempp W. (1997)
- Gene expression profiling identifies ARSD as a new mar ker of disease progression and the sphingolipid metabolism as a potential novel metabolism in chronic lymphocytic leukemia. (PubMed id 22820137)1 Trojani A....Morra E. (2011-2012)
- Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (2009)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
|
External Searches for ARSD gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ARSD gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ARSD gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ARSD gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ARSD | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ARSD gene:
Search GeneIP for patents involving ARSD
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ARSD gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARSD |
|  |  |  | | | | ThermoFisher Antibodies for ARSD |
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