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Aliases for ARSF Gene

Aliases for ARSF Gene

  • Arylsulfatase F 2 3 5
  • ASF 3 4
  • EC 3.1.6.2 58
  • EC 3.1.6.- 4
  • EC 3.1.6 58

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 Chondrodysplasia Punctata Syndrome. 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.

Additional gene information for ARSF Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARSF Gene

Genomics for ARSF Gene

Regulatory Elements for ARSF Gene

Enhancers for ARSF 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
GH0XH003518 1.3 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +480.5 480531 4 FOSL1 JUND FOS MXRA5 RNU6-146P ARSF SNORA48B GC0XM003534 GC0XP003465
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARSF on UCSC Golden Path with GeneCards custom track

Genomic Location for ARSF Gene

Chromosome:
X
Start:
3,040,234 bp from pter
End:
3,112,729 bp from pter
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 posLast=5050, posLast=117117, and Asn336
  • Modification sites at PhosphoSitePlus

Domains & Families for ARSF Gene

Gene Families for ARSF Gene

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

Protein Domains for ARSF Gene

Suggested Antigen Peptide Sequences for ARSF Gene

GenScript: Design optimal peptide antigens:

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

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

Enzyme Numbers (IUBMB) for ARSF Gene

Gene Ontology (GO) - Molecular Function for ARSF Gene

GO ID Qualified GO term Evidence PubMed IDs
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 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

Clone Products

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

No data available for Phenotypes From GWAS Catalog , 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 5
endoplasmic reticulum 5
lysosome 3
plasma membrane 2
cytosol 2
peroxisome 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 IDA 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

GO ID Qualified GO term Evidence PubMed IDs
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 ARSF: view

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 0
genes like me logo Genes that share compounds with ARSF: view

Transcripts for ARSF Gene

mRNA/cDNA for ARSF Gene

(8) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(18) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARSF Gene

Arylsulfatase F:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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
ECgene alternative splicing isoforms for
ARSF

Expression for ARSF Gene

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

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, PaxDb, and MOPED for ARSF Gene



Protein tissue co-expression partners for ARSF Gene

NURSA nuclear receptor signaling pathways regulating expression of ARSF Gene:

ARSF

SOURCE GeneReport for Unigene cluster for ARSF Gene:

Hs.101674

Evidence on tissue expression from TISSUES for ARSF Gene

  • Kidney(4.2)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with ARSF: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 33 34
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia ARSF 33 34
  • 78.14 (n)
oppossum
(Monodelphis domestica)
Mammalia ARSF 34
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARSF 34
  • 31 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 42 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii arsh 34
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sul-2 33 34
  • 47.26 (n)
D1014.1 35
  • 47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
ManyToMany
Species where no ortholog for ARSF 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)
  • 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 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)

Paralogs for ARSF Gene

Paralogs for ARSF Gene

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

Pseudogenes.org Pseudogenes for ARSF Gene

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

Variants for ARSF Gene

Sequence variations from dbSNP and Humsavar for ARSF Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs1000035184 -- 3,074,573(+) GTGTA(G/T)TTCTG intron-variant
rs1000107037 -- 3,074,143(+) AGGAC(A/T)CACCG intron-variant
rs1000132523 -- 3,099,695(+) GAGAT(C/T)TTTAA intron-variant
rs1000189132 -- 3,093,096(+) GGGAG(A/G)CAGAG intron-variant
rs1000211947 -- 3,100,232(+) ATCAT(A/C)TGCAA intron-variant

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)

Relevant External Links for ARSF Gene

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

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

Disorders for ARSF Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARSF Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
chondrodysplasia punctata syndrome
  • chondrodysplasia punctata
- elite association - COSMIC cancer census association via MalaCards
Search ARSF in MalaCards View complete list of genes associated with diseases

Relevant External Links for ARSF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARSF
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 22 60
  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 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 60

Products for ARSF Gene

Sources for ARSF Gene

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