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Aliases for ARSI Gene

Aliases for ARSI Gene

  • Arylsulfatase Family Member I 2 3 5
  • Arylsulfatase I 2 3
  • ASI 3 4
  • Arylsulfatase Family, Member I 2
  • EC 56
  • EC 3.1.6.- 4
  • EC 3.1.6 56
  • SPG66 3

External Ids for ARSI Gene

Previous GeneCards Identifiers for ARSI Gene

  • GC05M149657
  • GC05M144823

Summaries for ARSI Gene

Entrez Gene Summary for ARSI Gene

  • This gene encodes a protein that belongs to a large family of sulfatases that hydrolyze sulfate esters and sulfamates. Members of this family play a role in several cellular processes, including hormone synthesis, cell signaling in development and degradation of macromolecules. The protein encoded by this gene is thought to be secreted, and to function in extracellular space. [provided by RefSeq, Jul 2016]

GeneCards Summary for ARSI Gene

ARSI (Arylsulfatase Family Member I) is a Protein Coding gene. Diseases associated with ARSI include Autosomal Recessive Spastic Paraplegia Type 66 and Tinea Unguium. Among its related pathways are Metabolism of proteins and Gamma carboxylation, hypusine formation and arylsulfatase activation. Gene Ontology (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 ARSI Gene

  • Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts.

Additional gene information for ARSI Gene

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

Genomics for ARSI Gene

GeneHancer (GH) Regulatory Elements for ARSI Gene

Promoters and enhancers for ARSI Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I150298 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.3 +36.7 36656 8.8 BCOR CTCF KLF1 PKNOX1 ZBTB6 ZSCAN4 ZNF223 ZMYM3 RAD21 ZNF48 ARSI TCOF1 SLC6A7 CAMK2A
GH05I150338 Enhancer 0.3 ENCODE 550.8 +0.0 31 1 ATF2 LOC105378225 ARSI GM2A CAMK2A
GH05I150278 Enhancer 0.6 FANTOM5 ENCODE dbSUPER 12.8 +60.5 60472 0.8 ARSI TCOF1 PDGFRB PDE6A ENSG00000200334 SYNPO CAMK2A SLC6A7
GH05I150290 Enhancer 0.7 dbSUPER 8.3 +52.3 52250 1.5 CTCF PKNOX1 FEZF1 ZIC2 RAD21 CTBP1 PATZ1 SCRT2 ZNF143 SMC3 PDGFRB TCOF1 SLC6A7 ARSI MIR145 CAMK2A
GH05I150293 Enhancer 0.9 dbSUPER 5 +45.6 45556 0.7 HDAC1 HDGF PKNOX1 ARNT NFRKB TCF12 EGR1 ZNF366 SMARCA5 RXRA ARSI CAMK2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ARSI on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARSI gene promoter:

Genomic Locations for ARSI Gene

Genomic Locations for ARSI Gene
42,965 bases
Minus strand

Genomic View for ARSI Gene

Genes around ARSI on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSI Gene

Proteins for ARSI Gene

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

    Protein Symbol:
    Recommended name:
    Arylsulfatase I
    Protein Accession:
    Secondary Accessions:
    • A1L3B0
    • B3KV22
    • B7XD03

    Protein attributes for ARSI Gene

    569 amino acids
    Molecular mass:
    64030 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ARSI Gene


neXtProt entry for ARSI Gene

Selected DME Specific Peptides for ARSI Gene


Post-translational modifications for ARSI Gene

  • The oxidation of Cys-93 residue to 3-oxoalanine (also known as C(alpha)-formylglycine) by SUMF1/Sulfatase-modifying factor 1, seems critical for catalytic activity.
  • Glycosylation at posLast=276276, Asn288, posLast=466466, and Asn496
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSI Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ARSI Gene

Gene Families for ARSI Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ARSI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

Function for ARSI Gene

Molecular function for ARSI Gene

UniProtKB/Swiss-Prot Function:
Displays arylsulfatase activity at neutral pH, when co-expressed with SUMF1; arylsulfatase activity is measured in the secretion medium of retinal cell line, but no activity is recorded when measured in cell extracts.

Enzyme Numbers (IUBMB) for ARSI Gene

Phenotypes From GWAS Catalog for ARSI Gene

Gene Ontology (GO) - Molecular Function for ARSI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004065 arylsulfatase activity TAS 16174644
GO:0005515 protein binding IPI 25416956
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 ARSI: view
genes like me logo Genes that share phenotypes with ARSI: view

Animal Models for ARSI Gene

MGI Knock Outs for ARSI:

Animal Model Products

miRNA for ARSI Gene

miRTarBase miRNAs that target ARSI

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ARSI

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARSI Gene

Localization for ARSI Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSI Gene

Secreted. Endoplasmic reticulum. Note=Localized in the intracellular granular structures.

Subcellular locations from

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 ARSI gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
lysosome 3
nucleus 2
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARSI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with ARSI: view

Pathways & Interactions for ARSI Gene

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

Gene Ontology (GO) - Biological Process for ARSI 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 ARSI: view

No data available for SIGNOR curated interactions for ARSI Gene

Drugs & Compounds for ARSI Gene

(1) Drugs for ARSI Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with ARSI: view

Transcripts for ARSI Gene

mRNA/cDNA for ARSI Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ARSI Gene

Arylsulfatase family, member I:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ARSI

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

No ASD Table

Relevant External Links for ARSI Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ARSI Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ARSI Gene:


SOURCE GeneReport for Unigene cluster for ARSI Gene:


mRNA Expression by UniProt/SwissProt for ARSI Gene:

Tissue specificity: Expressed in placenta, in embryonic stem cells, fetal eyes and lens.

Evidence on tissue expression from TISSUES for ARSI Gene

  • Lung(4.1)
genes like me logo Genes that share expression patterns with ARSI: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARSI Gene

Orthologs for ARSI Gene

This gene was present in the common ancestor of animals.

Orthologs for ARSI Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ARSI 33 34
  • 98.77 (n)
(Canis familiaris)
Mammalia ARSI 33 34
  • 91.27 (n)
(Bos Taurus)
Mammalia ARSI 33 34
  • 90.51 (n)
(Mus musculus)
Mammalia Arsi 33 16 34
  • 87.87 (n)
(Rattus norvegicus)
Mammalia Arsi 33
  • 87.23 (n)
(Monodelphis domestica)
Mammalia ARSI 34
  • 86 (a)
(Gallus gallus)
Aves ARSI 33 34
  • 78.93 (n)
(Anolis carolinensis)
Reptilia ARSI 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia arsi 33
  • 69.36 (n)
(Danio rerio)
Actinopterygii ARSI (2 of 2) 34
  • 68 (a)
LOC563783 33
  • 65.58 (n)
ARSI (1 of 2) 34
  • 65 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011347 33
  • 49.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32191 33 34
  • 47.36 (n)
CG8646 34
  • 36 (a)
CG7402 34
  • 31 (a)
CG7408 34
  • 31 (a)
(Caenorhabditis elegans)
Secernentea sul-3 34
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 49 (a)
-- 34
  • 46 (a)
-- 34
  • 38 (a)
Species where no ortholog for ARSI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 ARSI Gene

Gene Tree for ARSI (if available)
Gene Tree for ARSI (if available)

Paralogs for ARSI Gene

Paralogs for ARSI Gene

(3) SIMAP similar genes for ARSI Gene using alignment to 2 proteins:

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

Variants for ARSI Gene

Sequence variations from dbSNP and Humsavar for ARSI Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs139095592 uncertain-significance, Hereditary spastic paraplegia 150,297,468(-) G/A coding_sequence_variant, missense_variant
rs139203947 likely-benign, Spastic paraplegia 150,298,072(-) G/A/C coding_sequence_variant, stop_gained, synonymous_variant
rs148519839 benign, Spastic paraplegia 150,297,682(-) G/A/C coding_sequence_variant, synonymous_variant
rs150211860 uncertain-significance, Hereditary spastic paraplegia 150,297,810(-) C/T coding_sequence_variant, missense_variant
rs151025550 benign, Spastic paraplegia 150,297,715(-) G/C coding_sequence_variant, synonymous_variant

Variation tolerance for ARSI Gene

Residual Variation Intolerance Score: 27.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARSI Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ARSI Gene

Disorders for ARSI Gene

MalaCards: The human disease database

(10) MalaCards diseases for ARSI Gene - From: HGMD, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
autosomal recessive spastic paraplegia type 66
  • spg66
tinea unguium
  • cellulitis and abscess
louse-borne relapsing fever
  • relapsing fever, louse-borne
cutaneous anthrax
  • anthrax, skin type
tinea corporis
  • dermatophytosis of the body
- elite association - COSMIC cancer census association via MalaCards
Search ARSI in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ARSI

genes like me logo Genes that share disorders with ARSI: view

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

Publications for ARSI Gene

  1. Characterization of the arylsulfatase I (ARSI) gene preferentially expressed in the human retinal pigment epithelium cell line ARPE-19. (PMID: 19262745) Oshikawa M … Kato S (Molecular vision 2009) 3 4 22 58
  2. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PMID: 16174644) Sardiello M … Ballabio A (Human molecular genetics 2005) 2 3 4 58
  3. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 58
  4. Molecular cloning and initial characterization of three novel human sulfatases. (PMID: 16500042) Obaya AJ (Gene 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ARSI Gene

  • Addgene plasmids for ARSI

Sources for ARSI Gene

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