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 s... See more...

Aliases for ARSL Gene

Aliases for ARSL Gene

  • Arylsulfatase L 2 3 4 5
  • Arylsulfatase E (Chondrodysplasia Punctata 1) 2 3
  • Arylsulfatase E 2 4
  • ARSE 3 4
  • ASE 3 4
  • Chondrodysplasia Punctata 1 2
  • EC 3.1.6.2 51
  • EC 3.1.6.- 4
  • EC 3.1.6 51
  • CDPX1 3
  • CDPXR 3
  • CDPX 3
  • ARSL 5

External Ids for ARSL Gene

Previous HGNC Symbols for ARSL Gene

  • CDPX
  • CDPX1
  • ARSE

Summaries for ARSL Gene

Entrez Gene Summary for ARSL 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 ARSL Gene

ARSL (Arylsulfatase L) is a Protein Coding gene. Diseases associated with ARSL include Chondrodysplasia Punctata 1, X-Linked Recessive and Chondrodysplasia Punctata, Brachytelephalangic, Autosomal. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism of proteins. An important paralog of this gene is ARSD.

UniProtKB/Swiss-Prot Summary for ARSL 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 ARSL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARSL Gene

Genomics for ARSL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARSL 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
GH0XJ002962 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 606.9 +4.7 4735 3.5 RNF2 PKNOX1 CEBPA CEBPB SAP130 POLR2A TFAP4 REST HNF1A SP1 ARSL lnc-ARSD-5 piR-49097-110 ARSD
GH0XJ002967 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 174 1 FOXA1 REST NRF1 MGA CTCF BHLHE40 SMARCA4 L3MBTL2 ARSL lnc-ARSD-5 ARSD
GH0XJ002894 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.4 +71.1 71096 5.8 CREB1 LEF1 ZHX2 FOXA1 PHF21A NR2C1 SP1 HDAC1 GABPA SOX6 HSALNG0136394 ARSH ARSD ARSL ARSD-AS1 GYG2
GH0XJ003728 Enhancer 0.7 FANTOM5 ENCODE 5 -760.1 -760134 0.6 REST FOSL1 BHLHE40 CREM MEIS2 RNF2 ATF1 piR-42491-239 PRKX ARSL RF00017-8133
GH0XJ002931 Enhancer 0.3 ENCODE 7.6 +36.9 36853 0.7 ZNF507 POU5F1 ARSL ARSD lnc-ARSE-2 lnc-ARSD-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for ARSL Gene

Genomic Locations for ARSL Gene
chrX:2,934,521-2,968,475
(GRCh38/hg38)
Size:
33,955 bases
Orientation:
Minus strand
chrX:2,852,673-2,886,286
(GRCh37/hg19)
Size:
33,614 bases
Orientation:
Minus strand

Genomic View for ARSL Gene

Genes around ARSL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSL Gene

Proteins for ARSL Gene

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

    Protein Symbol:
    P51690-ARSL_HUMAN
    Recommended name:
    Arylsulfatase L
    Protein Accession:
    P51690
    Secondary Accessions:
    • Q53FT2
    • Q53FU8

    Protein attributes for ARSL 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 ARSL Gene

Selected DME Specific Peptides for ARSL Gene

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

Post-translational modifications for ARSL 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 Asn58, Asn125, Asn258, and Asn344
  • Modification sites at PhosphoSitePlus

Domains & Families for ARSL Gene

Gene Families for ARSL Gene

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

Protein Domains for ARSL Gene

InterPro:
Blocks:
  • Sulfatase
ProtoNet:

Suggested Antigen Peptide Sequences for ARSL Gene

GenScript: Design optimal peptide antigens:
  • Arylsulfatase E (Chondrodysplasia punctata 1) (A1L484_HUMAN)
  • Arylsulfatase E (ARSE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51690

UniProtKB/Swiss-Prot:

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

Function for ARSL Gene

Molecular function for ARSL Gene

UniProtKB/Swiss-Prot Function:
May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates.
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.

Enzyme Numbers (IUBMB) for ARSL Gene

Phenotypes From GWAS Catalog for ARSL Gene

Gene Ontology (GO) - Molecular Function for ARSL 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 ARSL: view
genes like me logo Genes that share phenotypes with ARSL: view

Human Phenotype Ontology for ARSL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ARSL Gene

miRTarBase miRNAs that target ARSL

Inhibitory RNA Products

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

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ARSL Gene

Localization for ARSL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSL 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 ARSL gene
Compartment Confidence
golgi apparatus 5
plasma membrane 4
extracellular 4
endoplasmic reticulum 4
lysosome 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endosome 2
cytosol 2
peroxisome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ARSL 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 ARSL: view

Pathways & Interactions for ARSL Gene

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

Gene Ontology (GO) - Biological Process for ARSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 7720070
genes like me logo Genes that share ontologies with ARSL: view

No data available for SIGNOR curated interactions for ARSL Gene

Drugs & Compounds for ARSL Gene

(5) Drugs for ARSL 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
Sulfate Experimental, Investigational Pharma 0
Calcium Nutra 6556

(9) Additional Compounds for ARSL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/24:0)
  • 3'-Sulfogalactosylceramide
  • Tetracosanoyl sulfatide
  • 3'-Sulphogalactosylceramide
  • 3-O-Sulphogalactosylceramide (D18:1/24:0)
  • Tetracosanoyl sulphatide
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 ARSL: view

Transcripts for ARSL Gene

mRNA/cDNA for ARSL Gene

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

CRISPR Products

Inhibitory RNA Products

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

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

No ASD Table

Relevant External Links for ARSL Gene

GeneLoc Exon Structure for
ARSL

Expression for ARSL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ARSL

SOURCE GeneReport for Unigene cluster for ARSL Gene:

Hs.386975

mRNA Expression by UniProt/SwissProt for ARSL Gene:

P51690-ARSL_HUMAN
Tissue specificity: Expressed in the pancreas, liver and kidney.

Evidence on tissue expression from TISSUES for ARSL Gene

  • Liver(4.6)
  • Kidney(4.6)
  • Pancreas(4.5)
  • Heart(2.8)
  • Nervous system(2.7)
  • Muscle(2.5)
  • Blood(2.5)
  • Intestine(2.5)
  • Skin(2.4)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Regions:
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

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ARSL Gene

Orthologs for ARSL Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSL Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia ARSE 30 31
  • 81.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ARSE 30 31
  • 76.54 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARSE 31
  • 67 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARSE 31
  • 67 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Arse 30
  • 62.86 (n)
Chicken
(Gallus gallus)
Aves ARSH 30
  • 64.84 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 59 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia arsd 30
  • 58.4 (n)
Zebrafish
(Danio rerio)
Actinopterygii arsh 31
  • 51 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sul-2 31
  • 32 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
ManyToMany
Species where no ortholog for ARSL 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)
  • 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 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 ARSL Gene

ENSEMBL:
Gene Tree for ARSL (if available)
TreeFam:
Gene Tree for ARSL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARSL: view image

Paralogs for ARSL Gene

Pseudogenes.org Pseudogenes for ARSL Gene

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

Variants for ARSL Gene

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

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
643307 Uncertain Significance: X-linked chondrodysplasia punctata 1 2,938,145(-) G/T MISSENSE_VARIANT
667510 Benign: not provided 2,943,418(-) G/C INTRON_VARIANT
669785 Benign: not provided 2,955,272(-) A/C INTRON_VARIANT
669797 Benign: not provided 2,937,158(-) T/C INTRON_VARIANT
669801 Benign: not provided 2,937,134(-) G/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ARSL Gene

Structural Variations from Database of Genomic Variants (DGV) for ARSL 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 ARSL 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)

Additional Variant Information for ARSL Gene

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

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

Disorders for ARSL Gene

MalaCards: The human disease database

(28) MalaCards diseases for ARSL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrodysplasia punctata 1, x-linked recessive
  • cdpx1
chondrodysplasia punctata, brachytelephalangic, autosomal
  • brachytelephalangic chondrodysplasia punctata; bcdp
x-linked chondrodysplasia punctata 1
  • cdpx1
chondrodysplasia punctata syndrome
  • chondrodysplasia punctata
tracheal calcification
  • calcification of trachea
- elite association - COSMIC cancer census association via MalaCards
Search ARSL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARSL_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.
genes like me logo Genes that share disorders with ARSL: view

No data available for Genatlas for ARSL Gene

Publications for ARSL 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 23
  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 23
  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 23
  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
  5. X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. (PMID: 19839041) Casarin A … Salviati L (American journal of medical genetics. Part A 2009) 3 23

Products for ARSL Gene

Sources for ARSL Gene