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Aliases for ARSE Gene

Aliases for ARSE Gene

  • Arylsulfatase E (Chondrodysplasia Punctata 1) 2 3 5
  • ASE 3 4
  • EC 3.1.6.2 63
  • EC 3.1.6.- 4
  • EC 3.1.6 63
  • CDPXR 3
  • CDPX1 3
  • CDPX 3

External Ids for ARSE Gene

Previous HGNC Symbols for ARSE Gene

  • CDPX
  • CDPX1

Previous GeneCards Identifiers for ARSE Gene

  • GC0XM002158
  • GC0XM002022
  • GC0XM002382
  • GC0XM002447
  • GC0XM000795

Summaries for ARSE Gene

Entrez Gene Summary for ARSE Gene

  • Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]

GeneCards Summary for ARSE Gene

ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)) is a Protein Coding gene. Diseases associated with ARSE include chondrodysplasia punctata, x-linked recessive and chondrodysplasia punctata 1, x-linked. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSJ.

UniProtKB/Swiss-Prot for ARSE Gene

  • May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.

Gene Wiki entry for ARSE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSE Gene

Genomics for ARSE Gene

Regulatory Elements for ARSE Gene

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

ENSRs around ARSE on UCSC Golden Path with GeneCards custom track

Genomic Location for ARSE Gene

Chromosome:
X
Start:
2,934,632 bp from pter
End:
2,968,310 bp from pter
Size:
33,679 bases
Orientation:
Minus strand

Genomic View for ARSE Gene

Genes around ARSE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSE Gene

Proteins for ARSE Gene

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

    Protein Symbol:
    P51690-ARSE_HUMAN
    Recommended name:
    Arylsulfatase E
    Protein Accession:
    P51690
    Secondary Accessions:
    • Q53FT2
    • Q53FU8

    Protein attributes for ARSE Gene

    Size:
    589 amino acids
    Molecular mass:
    65669 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for ARSE Gene

Proteomics data for ARSE Gene at MOPED

Selected DME Specific Peptides for ARSE Gene

Post-translational modifications for ARSE Gene

  • N-glycosylated.
  • 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 58, Asn 125, Asn 258, and Asn 344
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSE Gene

Antibody Products

Domains & Families for ARSE Gene

Gene Families for ARSE Gene

Protein Domains for ARSE Gene

Suggested Antigen Peptide Sequences for ARSE Gene

Graphical View of Domain Structure for InterPro Entry

P51690

UniProtKB/Swiss-Prot:

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

Function for ARSE Gene

Molecular function for ARSE Gene

GENATLAS Biochemistry:
arylsulfatase E,X-linked,68kDa,escaping inactivation,highly homologous to ARSC1 with two alternatively spliced isoforms,heat labile,inhibited by warfarin
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.; Temperature dependence: Almost completely inactivated after 10 minutes at 50 degrees Celsius.;
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by millimolar concentrations of warfarin.
UniProtKB/Swiss-Prot Function:
May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.

Enzyme Numbers (IUBMB) for ARSE Gene

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

Human Phenotype Ontology for ARSE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

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

Localization for ARSE Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSE Gene

Golgi apparatus, Golgi stack.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARSE Gene COMPARTMENTS Subcellular localization image for ARSE gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
golgi apparatus 5
lysosome 3
plasma membrane 3
vacuole 3
nucleus 2

Gene Ontology (GO) - Cellular Components for ARSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005795 Golgi stack IEA --
genes like me logo Genes that share ontologies with ARSE: view

Pathways & Interactions for ARSE Gene

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

Pathways by source for ARSE Gene

Interacting Proteins for ARSE Gene

Gene Ontology (GO) - Biological Process for ARSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7720070
GO:0043687 post-translational protein modification TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with ARSE: view

No data available for SIGNOR curated interactions for ARSE Gene

Drugs & Compounds for ARSE Gene

(2) Drugs for ARSE Gene - From: HMDB

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

(12) Additional Compounds for ARSE Gene - From: HMDB and Novoseek

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
estrone sulfate
  • Conestoral
  • Estrogenic substances
  • Estrone
  • Estrone hydrogen sulfate
  • Estrone hydrogen sulphate
481-97-0
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 ARSE: view

Transcripts for ARSE Gene

Unigene Clusters for ARSE Gene

Arylsulfatase E (chondrodysplasia punctata 1):
Representative Sequences:

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

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: - - -
SP4: -

Relevant External Links for ARSE Gene

GeneLoc Exon Structure for
ARSE
ECgene alternative splicing isoforms for
ARSE

Expression for ARSE Gene

mRNA expression in normal human tissues for ARSE Gene

mRNA differential expression in normal tissues according to GTEx for ARSE Gene

This gene is overexpressed in Pancreas (x15.5), Liver (x14.1), Colon - Transverse (x4.8), and Kidney - Cortex (x4.5).

Protein differential expression in normal tissues from HIPED for ARSE Gene

This gene is overexpressed in Gallbladder (32.4), Fetal Liver (8.7), Liver (7.9), and Pancreas (7.4).

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



SOURCE GeneReport for Unigene cluster for ARSE Gene Hs.386975

mRNA Expression by UniProt/SwissProt for ARSE Gene

P51690-ARSE_HUMAN
Tissue specificity: Expressed in the pancreas, liver and kidney.
genes like me logo Genes that share expression patterns with ARSE: view

Protein tissue co-expression partners for ARSE Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ARSE Gene

Orthologs for ARSE Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARSE 35
  • 76.54 (n)
  • 76.13 (a)
ARSE 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARSE 35
  • 81.17 (n)
  • 80.42 (a)
ARSE 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arse 35
  • 62.86 (n)
  • 60.77 (a)
oppossum
(Monodelphis domestica)
Mammalia ARSE 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARSE 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARSH 35
  • 64.84 (n)
  • 63.84 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 59 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arsd 35
  • 58.4 (n)
  • 56.71 (a)
zebrafish
(Danio rerio)
Actinopterygii arsh 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D1014.1 37
  • 48 (a)
sul-2 36
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
ManyToMany
Species with no ortholog for ARSE:
  • 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)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • 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 ARSE Gene

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

Paralogs for ARSE Gene

Paralogs for ARSE Gene

(6) SIMAP similar genes for ARSE Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for ARSE Gene

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

Variants for ARSE Gene

Sequence variations from dbSNP and Humsavar for ARSE Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_007307 Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
VAR_007308 Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
VAR_007309 Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
VAR_007310 Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
VAR_007311 Chondrodysplasia punctata 1, X-linked recessive (CDPX1)

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

Variant ID Type Subtype PubMed ID
dgv2432e1 CNV Complex 17122850
esv34985 CNV Gain 17911159
essv3621 CNV CNV 17122850

Variation tolerance for ARSE Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 24.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARSE Gene

HapMap Linkage Disequilibrium report
ARSE
Human Gene Mutation Database (HGMD)
ARSE

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

Disorders for ARSE Gene

MalaCards: The human disease database

(10) MalaCards diseases for ARSE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia punctata, x-linked recessive
  • cdpx1
chondrodysplasia punctata 1, x-linked
  • cdpx1
chondrodysplasia punctata
  • chondrodysplasia calcificans congenita
x-linked chondrodysplasia punctata
  • chondrodystrophia calcificans congenita
malignant essential hypertension
  • accelerated essential hypertension
- elite association - COSMIC cancer census association via MalaCards
Search ARSE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARSE_HUMAN
  • Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950]: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. {ECO:0000269 PubMed:12567415, ECO:0000269 PubMed:7720070, ECO:0000269 PubMed:9409863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ARSE

Genetic Association Database (GAD)
ARSE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARSE
genes like me logo Genes that share disorders with ARSE: view

No data available for Genatlas for ARSE Gene

Publications for ARSE 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. X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. (PMID: 19839041) Casarin A. … Salviati L. (Am. J. Med. Genet. A 2009) 3 23
  3. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. (PMID: 18348268) Nino M. … Braverman N. (Am. J. Med. Genet. A 2008) 3 23
  4. Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers. (PMID: 16470742) Chocholska S. … Kehrer-Sawatzki H. (Am. J. Med. Genet. A 2006) 3 23
  5. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. (PMID: 12567415) Brunetti-Pierri N. … Parenti G. (Am. J. Med. Genet. A 2003) 3 23

Products for ARSE Gene

Sources for ARSE Gene

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