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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 3.1.6.12 61
  • EC 3.1.6.- 4
  • EC 3.1.6 61
  • 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 Spastic Paraplegia 66. Among its related pathways are Metabolism and Sphingolipid metabolism. 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.

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

Enhancers for ARSI 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
GH05F150278 1.3 FANTOM5 Ensembl ENCODE 12.8 +60.4 60407 1.0 ZNF664 BHLHE40 ARSI TCOF1 PDGFRB PDE6A ENSG00000200334 SYNPO CAMK2A SLC6A7
GH05F150271 0.8 Ensembl 4.5 +68.4 68407 0.2 BCOR SCRT2 ZMYM3 CEBPB NFE2 KDM1A NR2F6 EMSY RARA TCOF1 ARSI CAMK2A SLC6A7
GH05F150338 0.2 ENCODE 0.8 +0.0 32 1.0 GM2A ARSI CAMK2A
GH05F150329 0.3 FANTOM5 0.4 +10.0 10026 0.3 PKNOX1 ETV1 ZNF175 FOSL1 GATA2 NCOR1 NR2F6 RFX1 ZBTB2 BHLHE40 HMGXB3 ARSI CAMK2A
GH05F150316 0.9 FANTOM5 Ensembl ENCODE 0.3 +19.2 19161 8.0 ARNT CREB3L1 SIN3A FEZF1 ZNF766 FOS KLF13 REST SMARCB1 MEF2D PDGFRB CAMK2A TCOF1 SLC6A7 CDX1 CSF1R SYNPO ARSI
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ARSI on UCSC Golden Path with GeneCards custom track

Genomic Location for ARSI Gene

Chromosome:
5
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

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:
    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;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ARSI Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARSI Gene

Selected DME Specific Peptides for ARSI Gene

Q5FYB1:
  • QPNCLPLD
  • THMVGKWHLG
  • GFVHSPLLK
  • KGTYWEGG
  • CTPSRSQLLTGRYQI
  • GYSTHMVGKWHLGFYRK
  • PTRRGFDT
  • FPGSWWNLERMAS
  • YQIHTGLQHSIIRP
  • DVGYHGS
  • GFGIWNTAVQAAIRVGEWKLLTGDPGYGDWIPPQTLA

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 Asn 276, Asn 288, Asn 466, and Asn 496
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSI Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ARSI Gene

Gene Families for ARSI Gene

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 :
  • Belongs to the sulfatase family.
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: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

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for ARSI Gene COMPARTMENTS Subcellular localization image for ARSI gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 4
lysosome 3
vacuole 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: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 Nutra 0
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

Clone Products

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 from GTEx, Illumina, BioGPS, and 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:

ARSI

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 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 and Protein tissue co-expression partners 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 34 35
  • 98.77 (n)
dog
(Canis familiaris)
Mammalia ARSI 34 35
  • 91.27 (n)
cow
(Bos Taurus)
Mammalia ARSI 34 35
  • 90.51 (n)
mouse
(Mus musculus)
Mammalia Arsi 34 16 35
  • 87.87 (n)
rat
(Rattus norvegicus)
Mammalia Arsi 34
  • 87.23 (n)
oppossum
(Monodelphis domestica)
Mammalia ARSI 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARSI 34 35
  • 78.93 (n)
lizard
(Anolis carolinensis)
Reptilia ARSI 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arsi 34
  • 69.36 (n)
zebrafish
(Danio rerio)
Actinopterygii ARSI (2 of 2) 35
  • 68 (a)
OneToMany
LOC563783 34
  • 65.58 (n)
ARSI (1 of 2) 35
  • 65 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011347 34
  • 49.65 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32191 34 35
  • 47.36 (n)
CG8646 35
  • 36 (a)
ManyToMany
CG7402 35
  • 31 (a)
ManyToMany
CG7408 35
  • 31 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sul-3 35
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
ManyToMany
-- 35
  • 46 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ARSI (if available)
TreeFam:
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 Sequence Context AA Info Type
rs10463232 -- 150,301,246(+) CCCCA(A/T)CCAAG intron-variant
rs111413198 -- 150,297,607(+) GTCTG(C/T)GGTGG reference, synonymous-codon
rs111902637 -- 150,299,098(+) TTGCC(C/T)GGTGA intron-variant
rs111905171 -- 150,297,106(+) ACACC(C/T)TCCAA utr-variant-3-prime
rs112026546 -- 150,300,729(+) GCTTC(A/G)CAGAT intron-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)

Relevant External Links for ARSI Gene

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

(9) MalaCards diseases for ARSI Gene - From: GeneTests, Orphanet, and DISEASES

Disorder Aliases PubMed IDs
autosomal recessive spastic paraplegia type 66
  • spg66
spastic paraplegia 66
tinea unguium
  • cellulitis and abscess
louse-borne relapsing fever
  • relapsing fever, louse-borne
tinea pedis
  • athlete's foot
- elite association - COSMIC cancer census association via MalaCards
Search ARSI in MalaCards View complete list of genes associated with diseases

Relevant External Links for ARSI

Genetic Association Database (GAD)
ARSI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Vis. 2009) 3 4 22 64
  2. Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (PMID: 16174644) Sardiello M. … Ballabio A. (Hum. Mol. Genet. 2005) 2 3 4 64
  3. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3 64
  4. Molecular cloning and initial characterization of three novel human sulfatases. (PMID: 16500042) Obaya A.J. (Gene 2006) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for ARSI Gene

Sources for ARSI Gene

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