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Aliases for ARSE Gene

Aliases for ARSE Gene

  • Arylsulfatase E (Chondrodysplasia Punctata 1) 2 3 5
  • ASE 3 4
  • Arylsulfatase E 3
  • EC 3.1.6.2 58
  • EC 3.1.6.- 4
  • EC 3.1.6 58
  • 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 Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism. GO annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSD.

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

Additional gene information for ARSE Gene

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

Genomics for ARSE Gene

Regulatory Elements for ARSE Gene

Enhancers for ARSE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH002962 0.9 Ensembl ENCODE 6.9 +4.5 4536 3 GATAD2A DRAP1 TFAP4 PKNOX1 SAP130 RNF2 CEBPG REST KAT8 HNF1A ARSE ARSD
GH0XH002894 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +70.9 70932 5 HDAC1 PKNOX1 ATF1 NFIB ARNT YY1 TCF12 GATA2 FOS RCOR1 ARSH ARSD ARSE ARSD-AS1 PIR48029
GH0XH003728 0.8 FANTOM5 ENCODE 5 -760.3 -760299 0 FOSL1 ATF1 REST CREM PRKX ARSE LOC100128355 GC0XP003784
GH0XH002931 0.5 ENCODE 7.6 +36.7 36688 0 POU5F1 ZNF507 SETDB1 ARSE ARSD
GH0XH002935 0.4 Ensembl 7.9 +32.8 32830 0 POLR2A CEBPB ARSE ARSD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARSE on UCSC Golden Path with GeneCards custom track

Promoters for ARSE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243898 -90 400 CTCF NRF1 BHLHE40 REST

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

Selected DME Specific Peptides for ARSE Gene

P51690:
  • AFLTGRYP
  • GMGGWEGGIRVPGIFRWP
  • HDPPLLFD
  • NGIYKGG
  • WEGGIRVPG

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 posLast=5858, Asn125, posLast=258258, and posLast=344344
  • Modification sites at PhosphoSitePlus

Domains & Families for ARSE Gene

Gene Families for ARSE Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

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

Phenotypes From GWAS Catalog for ARSE Gene

Gene Ontology (GO) - Molecular Function for ARSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004065 arylsulfatase activity TAS 9192838
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 ARSE: view
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARSE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for 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
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 ARSE gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 3
lysosome 3
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IDA --
GO:0005795 Golgi stack IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane 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

Gene Ontology (GO) - Biological Process for ARSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7720070
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 ARSE: view

No data available for SIGNOR curated interactions for ARSE Gene

Drugs & Compounds for ARSE Gene

(4) Drugs for ARSE 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 Nutra 0

(10) 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
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 ARSE: view

Transcripts for ARSE Gene

Unigene Clusters for ARSE Gene

Arylsulfatase E (chondrodysplasia punctata 1):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARSE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for ARSE Gene

NURSA nuclear receptor signaling pathways regulating expression of ARSE Gene:

ARSE

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.

Evidence on tissue expression from TISSUES for ARSE Gene

  • Kidney(4.5)
  • Liver(4.5)
  • Pancreas(4.3)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSE Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • nose
  • olfactory bulb
  • pituitary gland
  • skull
Thorax:
  • breast
  • clavicle
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ARSE: view

Primer 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
dog
(Canis familiaris)
Mammalia ARSE 33 34
  • 81.17 (n)
cow
(Bos Taurus)
Mammalia ARSE 34 33
  • 76.54 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSE 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARSE 34
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arse 33
  • 62.86 (n)
chicken
(Gallus gallus)
Aves ARSH 33
  • 64.84 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 59 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arsd 33
  • 58.4 (n)
zebrafish
(Danio rerio)
Actinopterygii arsh 34
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D1014.1 35
  • 48 (a)
sul-2 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
ManyToMany
Species where no ortholog for ARSE 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)
  • 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
rs122460151 other, Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] 2,958,423(-) TTCAG(C/G)AGCTG intron-variant, reference, missense
rs122460152 Pathogenic, Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] 2,953,224(-) GGACC(A/G)GAGCA reference, missense
rs122460153 Pathogenic, Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] 2,953,241(-) TTACC(A/C/G)TGTTC reference, missense
rs122460154 Pathogenic, Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] 2,949,425(-) TTGTG(C/G)GTGCT intron-variant, reference, missense
rs122460155 Pathogenic, Chondrodysplasia punctata 1, X-linked recessive (CDPX1) [MIM:302950] 2,935,127(-) TGCCT(A/G)CTATG reference, missense

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

Variant ID Type Subtype PubMed ID
esv2758855 CNV gain 17122850
esv33241 CNV loss 17666407
esv34985 CNV gain 17911159
esv3573434 CNV loss 25503493

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

Human Gene Mutation Database (HGMD)
ARSE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARSE

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

Disorders for ARSE Gene

MalaCards: The human disease database

(9) MalaCards diseases for ARSE Gene - From: HGMD, 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
x-linked chondrodysplasia punctata
  • chondrodystrophia calcificans congenita
chondrodysplasia punctata syndrome
  • chondrodysplasia punctata
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. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. (PMID: 12567415) Brunetti-Pierri N … Parenti G (American journal of medical genetics. Part A 2003) 3 4 22 60
  2. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. (PMID: 9497243) Daniele A … Meroni G (American journal of human genetics 1998) 3 4 22 60
  3. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. (PMID: 9409863) Parenti G … Andria G (American journal of medical genetics 1997) 3 4 22 60
  4. 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 60
  5. Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). (PMID: 22021425) Carty CL … Kooperberg C (Human molecular genetics 2012) 3 45 60

Products for ARSE Gene

Sources for ARSE Gene

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