This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity... See more...

Aliases for ARSF Gene

Aliases for ARSF Gene

  • Arylsulfatase F 2 3 4 5
  • ASF 3 4
  • EC 3.1.6.2 51
  • EC 3.1.6.- 4
  • EC 3.1.6 51
  • ARSF 5

External Ids for ARSF Gene

Previous GeneCards Identifiers for ARSF Gene

  • GC0XP002264
  • GC0XP002158
  • GC0XP002514
  • GC0XP002579
  • GC0XP002978
  • GC0XP000927

Summaries for ARSF Gene

Entrez Gene Summary for ARSF Gene

  • This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]

GeneCards Summary for ARSF Gene

ARSF (Arylsulfatase F) is a Protein Coding gene. Diseases associated with ARSF include Charcot-Marie-Tooth Disease, Axonal, Type 2V and Achondrogenesis, Type Ib. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSD.

Additional gene information for ARSF Gene

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

Genomics for ARSF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ARSF 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
GH0XJ003066 Promoter 0.6 EPDnew 600.3 +26.6 26574 0.1 POLR2A CEBPB SMARCA4 piR-61101-690 ARSF FJ601678-166 MXRA5
GH0XJ003055 Promoter 0.3 EPDnew 600.4 +15.1 15088 0.1 RF00017-8129 ARSF RF00017-8130 RN7SL578P lnc-ARSE-3 MXRA5
GH0XJ003518 Enhancer 0.9 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 1.7 +480.5 480530 4.7 JUND FOS FOSL1 MXRA5 RNU6-146P ARSF SNORA48B piR-56341-247 PRKX
GH0XJ003035 Enhancer 0.7 Ensembl 0.7 -4.3 -4255 0.4 CTCF ZNF143 RXRB NR2C1 RAD21 TRIM22 CEBPA SCRT2 NR2C2 SMC3 ARSF NONHSAG053948.2 ARSH
GH0XJ003026 Enhancer 0.7 Ensembl ENCODE 0.4 -13.8 -13803 0.7 CTBP1 PKNOX1 ZNF217 NFIC ELK1 DPF2 ELF1 NFIB FOS SMARCE1 RF00017-8128 ARSH ARSF
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Genomic Locations for ARSF Gene

Genomic Locations for ARSF Gene
chrX:3,040,234-3,112,729
(GRCh38/hg38)
Size:
72,496 bases
Orientation:
Plus strand
chrX:2,958,275-3,030,770
(GRCh37/hg19)
Size:
72,496 bases
Orientation:
Plus strand

Genomic View for ARSF Gene

Genes around ARSF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSF Gene

Proteins for ARSF Gene

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

    Protein Symbol:
    P54793-ARSF_HUMAN
    Recommended name:
    Arylsulfatase F
    Protein Accession:
    P54793
    Secondary Accessions:
    • Q8TCC5

    Protein attributes for ARSF Gene

    Size:
    590 amino acids
    Molecular mass:
    65940 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

neXtProt entry for ARSF Gene

Selected DME Specific Peptides for ARSF Gene

P54793:
  • AFLTGRYP
  • IDGRDLMPLL
  • GLPLNETTLA
  • HEFLFHYC
  • NGIYKGG
  • WEGGIRVPG

Post-translational modifications for ARSF 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 Asn50, Asn117, and Asn336
  • Modification sites at PhosphoSitePlus

Domains & Families for ARSF Gene

Gene Families for ARSF Gene

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

Protein Domains for ARSF Gene

InterPro:
Blocks:
  • Sulfatase
ProtoNet:

Suggested Antigen Peptide Sequences for ARSF Gene

GenScript: Design optimal peptide antigens:
  • Arylsulfatase F (ARSF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54793

UniProtKB/Swiss-Prot:

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

Function for ARSF Gene

Molecular function for ARSF Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.;
UniProtKB/Swiss-Prot EnzymeRegulation:
Not inhibited by DHEAS or warfarin.
GENATLAS Biochemistry:
arylsulfatase F,X-linked,escaping inactivation,highly homologous to ARSC1,heat labile,not inhibited by warfarin

Enzyme Numbers (IUBMB) for ARSF Gene

Phenotypes From GWAS Catalog for ARSF Gene

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

Animal Model Products

CRISPR Products

miRNA for ARSF Gene

miRTarBase miRNAs that target ARSF

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARSF Gene

Localization for ARSF Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSF Gene

Secreted.

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 ARSF gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
lysosome 4
plasma membrane 3
cytosol 3
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ARSF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ARSF: view

Pathways & Interactions for ARSF Gene

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

Gene Ontology (GO) - Biological Process for ARSF Gene

None

No data available for SIGNOR curated interactions for ARSF Gene

Drugs & Compounds for ARSF Gene

(1) Drugs for ARSF Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with ARSF: view

Transcripts for ARSF Gene

mRNA/cDNA for ARSF Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 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 ARSF

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -

Relevant External Links for ARSF Gene

GeneLoc Exon Structure for
ARSF

Expression for ARSF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ARSF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x6.9), Brain - Putamen (basal ganglia) (x4.8), Skin - Sun Exposed (Lower leg) (x4.7), and Brain - Caudate (basal ganglia) (x4.6).

Protein differential expression in normal tissues from HIPED for ARSF Gene

This gene is overexpressed in Urine (60.8).

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



Protein tissue co-expression partners for ARSF Gene

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

SOURCE GeneReport for Unigene cluster for ARSF Gene:

Hs.101674

Evidence on tissue expression from TISSUES for ARSF Gene

  • Kidney(4.4)
  • Nervous system(4.3)
  • Liver(2)
genes like me logo Genes that share expression patterns with ARSF: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSF Gene

Orthologs for ARSF Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ARSF 30 31
  • 99.34 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ARSF 30 31
  • 78.14 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ARSF 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ARSF 31
  • 31 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 42 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii arsh 31
  • 50 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sul-2 30 31
  • 47.26 (n)
OneToMany
D1014.1 32
  • 47 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
ManyToMany
Species where no ortholog for ARSF 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)
  • Chicken (Gallus gallus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ARSF Gene

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

Paralogs for ARSF Gene

(5) SIMAP similar genes for ARSF Gene using alignment to 1 proteins:

  • ARSF_HUMAN

Pseudogenes.org Pseudogenes for ARSF Gene

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

Variants for ARSF Gene

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

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
771943 Likely Benign: not provided 3,101,226(+) G/A INTRON_VARIANT
771944 Benign: not provided 3,112,535(+) G/GGGTCCTAACGAGA NO_SEQUENCE_ALTERATION
775122 Benign: not provided 3,072,032(+) C/G SYNONYMOUS_VARIANT
rs1052638 - p.His527Tyr

Additional dbSNP identifiers (rs#s) for ARSF Gene

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

Variant ID Type Subtype PubMed ID
dgv16n29 CNV gain 16826518
esv2752320 CNV gain 17911159
esv2758855 CNV gain 17122850
esv34985 CNV gain 17911159
nsv1078105 CNV duplication 25765185
nsv1139385 CNV deletion 24896259
nsv1150280 CNV duplication 26484159

Variation tolerance for ARSF Gene

Residual Variation Intolerance Score: 97.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ARSF Gene

MalaCards: The human disease database

(4) MalaCards diseases for ARSF Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ARSF in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with ARSF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARSF Gene

Publications for ARSF Gene

  1. 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 4 23
  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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3

Products for ARSF Gene

  • Signalway ELISA kits for ARSF
  • Signalway Proteins for ARSF

Sources for ARSF Gene