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Aliases for ARSI Gene

Aliases for ARSI Gene

  • Arylsulfatase Family, Member I 2 3
  • Arylsulfatase I 2 3
  • ASI 3 4
  • EC 3.1.6.12 63
  • EC 3.1.6.- 4
  • EC 3.1.6 63
  • 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

  • Sulfatases (EC 3.1.5.6), such as ARSI, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]

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 xerophthalmia. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include 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.

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

Genomics for ARSI Gene

Regulatory Elements for ARSI Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ARSI Gene

Start:
150,296,343 bp from pter
End:
150,339,307 bp from pter
Size:
42,965 bases
Orientation:
Minus strand

Genomic View for ARSI Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q5FYB1-ARSI_HUMAN
    Recommended name:
    Arylsulfatase I
    Protein Accession:
    Q5FYB1
    Secondary Accessions:
    • A1L3B0
    • B3KV22
    • B7XD03

    Protein attributes for ARSI Gene

    Size:
    569 amino acids
    Molecular mass:
    64030 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ARSI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARSI Gene

Proteomics data for ARSI Gene at MOPED

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 Asn276, Asn288, Asn466, and Asn496
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSI Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for ARSI Gene

Gene Families for ARSI Gene

HGNC:
  • ARS :Arylsulfatase family

Protein Domains for ARSI Gene

Suggested Antigen Peptide Sequences for ARSI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5FYB1

UniProtKB/Swiss-Prot:

ARSI_HUMAN :
  • Q5FYB1
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

Gene Ontology (GO) - Molecular Function for ARSI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004065 arylsulfatase activity TAS 16174644
GO:0005515 protein binding IPI 25416956
GO:0008484 sulfuric ester hydrolase activity --
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:

miRNA for ARSI Gene

miRTarBase miRNAs that target ARSI

No data available for Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for ARSI Gene COMPARTMENTS Subcellular localization image for ARSI gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 3
cytosol 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ARSI Gene

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

Pathways for ARSI Gene

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

Interacting Proteins for ARSI Gene

Gene Ontology (GO) - Biological Process for ARSI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006665 sphingolipid metabolic process TAS --
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0008152 metabolic process --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with ARSI: view

Compounds for ARSI Gene

(1) HMDB Compounds for ARSI Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with ARSI: view

Transcripts for ARSI Gene

mRNA/cDNA for ARSI Gene

Unigene Clusters for ARSI Gene

Arylsulfatase family, member I:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ARSI

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ARSI

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ARSI Gene

GeneLoc Exon Structure for
ARSI
ECgene alternative splicing isoforms for
ARSI

Expression for ARSI Gene

mRNA expression in normal human tissues for ARSI Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

SOURCE GeneReport for Unigene cluster for ARSI Gene Hs.591252

mRNA Expression by UniProt/SwissProt for ARSI Gene

Q5FYB1-ARSI_HUMAN
Tissue specificity: Expressed in placenta, in embryonic stem cells, fetal eyes and lens.
genes like me logo Genes that share expressions with ARSI: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia ARSI 35
  • 98.77 (n)
  • 98.76 (a)
ARSI 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ARSI 35
  • 90.51 (n)
  • 94.73 (a)
ARSI 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARSI 35
  • 91.27 (n)
  • 96.31 (a)
ARSI 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arsi 35
  • 87.87 (n)
  • 95.96 (a)
Arsi 16
Arsi 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARSI 36
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arsi 35
  • 87.23 (n)
  • 95.78 (a)
chicken
(Gallus gallus)
Aves ARSI 35
  • 78.93 (n)
  • 84.15 (a)
ARSI 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARSI 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arsi 35
  • 69.36 (n)
  • 79.96 (a)
zebrafish
(Danio rerio)
Actinopterygii ARSI (1 of 2) 36
  • 65 (a)
OneToMany
ARSI (2 of 2) 36
  • 68 (a)
OneToMany
LOC563783 35
  • 65.58 (n)
  • 69.67 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011347 35
  • 49.65 (n)
  • 39.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG32191 35
  • 47.36 (n)
  • 38.55 (a)
CG32191 36
  • 32 (a)
ManyToMany
CG7402 36
  • 31 (a)
ManyToMany
CG7408 36
  • 31 (a)
ManyToMany
CG8646 36
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sul-3 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
ManyToMany
-- 36
  • 38 (a)
ManyToMany
-- 36
  • 46 (a)
ManyToMany
Species with no ortholog for ARSI:
  • 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

ENSEMBL:
Gene Tree for ARSI (if available)
TreeFam:
Gene Tree for ARSI (if available)

Paralogs for ARSI Gene

Paralogs for ARSI Gene

Selected 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 Sequence Context AA Info Type MAF
rs930209 -- 150,301,091(-) GTGCC(C/T)GTGCC intron-variant
rs930210 -- 150,301,029(-) GGTCC(C/T)GGAGC intron-variant
rs968431 -- 150,302,647(-) TGAGC(C/T)GGGGA utr-variant-5-prime
rs4286653 -- 150,300,696(+) GGAGG(A/G)CAGGC intron-variant
rs6579784 -- 150,298,288(+) TGGGC(A/G)TAAAG synonymous-codon, reference

Relevant External Links for ARSI Gene

HapMap Linkage Disequilibrium report
ARSI
Human Gene Mutation Database (HGMD)
ARSI

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

MalaCards: The human disease database. (3) Diseases for ARSI Gene including...

Search for ARSI Gene in MalaCards »

(2) University of Copenhagen DISEASES for ARSI Gene

Relevant External Links for ARSI

Genetic Association Database (GAD)
ARSI
genes like me logo Genes that share disorders with ARSI: view

No data available for UniProtKB/Swiss-Prot 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. (Mol. Vis. 2009) 3 4 23
  2. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PMID: 16174644) Sardiello M. … Ballabio A. (Hum. Mol. Genet. 2005) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Molecular cloning and initial characterization of three novel human sulfatases. (PMID: 16500042) Obaya A.J. (Gene 2006) 3 4
  5. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3

Products for ARSI Gene

Sources for ARSI Gene

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