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Aliases for ARSB Gene

Aliases for ARSB Gene

  • Arylsulfatase B 2 3 5
  • N-Acetylgalactosamine-4-Sulfatase 3 4
  • EC 3.1.6.12 4 63
  • ASB 3 4
  • G4S 3 4
  • MPS6 3

External Ids for ARSB Gene

Previous GeneCards Identifiers for ARSB Gene

  • GC05M076881
  • GC05M078312
  • GC05M078114
  • GC05M078159
  • GC05M078158
  • GC05M078108
  • GC05M073279

Summaries for ARSB Gene

Entrez Gene Summary for ARSB Gene

  • Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targetted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARSB Gene

ARSB (Arylsulfatase B) is a Protein Coding gene. Diseases associated with ARSB include mucopolysaccharidosis type vi and mucopolysaccharidosis type 6, slowly progressing. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include sulfuric ester hydrolase activity and N-acetylgalactosamine-4-sulfatase activity. An important paralog of this gene is ARSJ.

UniProtKB/Swiss-Prot for ARSB Gene

  • Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).

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

Genomics for ARSB Gene

Regulatory Elements for ARSB Gene

Promoters for ARSB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARSB on UCSC Golden Path with GeneCards custom track

Genomic Location for ARSB Gene

Chromosome:
5
Start:
78,777,209 bp from pter
End:
78,986,534 bp from pter
Size:
209,326 bases
Orientation:
Minus strand

Genomic View for ARSB Gene

Genes around ARSB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ARSB Gene

Proteins for ARSB Gene

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

    Protein Symbol:
    P15848-ARSB_HUMAN
    Recommended name:
    Arylsulfatase B
    Protein Accession:
    P15848
    Secondary Accessions:
    • B2RC20
    • Q8N322
    • Q9UDI9

    Protein attributes for ARSB Gene

    Size:
    533 amino acids
    Molecular mass:
    59687 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for ARSB Gene

    Alternative splice isoforms for ARSB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARSB Gene

Proteomics data for ARSB Gene at MOPED

Selected DME Specific Peptides for ARSB Gene

Post-translational modifications for ARSB 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. This post-translational modification is severely defective in multiple sulfatase deficiency (MSD).
  • Glycosylation at Asn 188, Asn 279, Asn 291, Asn 366, Asn 426, and Asn 458
  • Modification sites at PhosphoSitePlus

Other Protein References for ARSB Gene

Antibody Products

  • R&D Systems Antibodies for ARSB (Arylsulfatase B/ARSB)

Domains & Families for ARSB Gene

Gene Families for ARSB Gene

Protein Domains for ARSB Gene

Suggested Antigen Peptide Sequences for ARSB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15848

UniProtKB/Swiss-Prot:

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

Function for ARSB Gene

Molecular function for ARSB Gene

GENATLAS Biochemistry:
arylsulfatase B,lysosomal,acting on dermatan sulfate,catalyzing the third step of degradation of glucosaminoglycans (mucopolysaccharides)
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by ethanol (By similarity).
UniProtKB/Swiss-Prot Function:
Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).

Enzyme Numbers (IUBMB) for ARSB Gene

Gene Ontology (GO) - Molecular Function for ARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008484 sulfuric ester hydrolase activity IEA --
genes like me logo Genes that share ontologies with ARSB: view
genes like me logo Genes that share phenotypes with ARSB: view

Human Phenotype Ontology for ARSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARSB Gene

MGI Knock Outs for ARSB:

No data available for Transcription Factor Targets and HOMER Transcription for ARSB Gene

Localization for ARSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARSB Gene

Lysosome. Cell surface.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARSB Gene COMPARTMENTS Subcellular localization image for ARSB gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 5
vacuole 5
golgi apparatus 3
mitochondrion 2
endosome 1

Gene Ontology (GO) - Cellular Components for ARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009986 cell surface ISS --
genes like me logo Genes that share ontologies with ARSB: view

Pathways & Interactions for ARSB Gene

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

Gene Ontology (GO) - Biological Process for ARSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006914 autophagy IEA --
GO:0007040 lysosome organization TAS 1718978
GO:0007417 central nervous system development IEA --
GO:0007584 response to nutrient IEA --
genes like me logo Genes that share ontologies with ARSB: view

No data available for SIGNOR curated interactions for ARSB Gene

Drugs & Compounds for ARSB Gene

(4) Drugs for ARSB Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
Chondroitin Nutra 40

(16) Additional Compounds for ARSB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chondroitin sulfate
  • Chondritinsulfate
  • Chondritinsulphate
  • Chondroitin 6-sulfate
  • Chondroitin 6-sulphate
  • Chondroitin polysulfate
9007-28-7
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
24967-94-0
Sulfate
  • Sulfate (ion 2-)
  • Sulfate anion
  • Sulfate anion(2-)
  • Sulfate dianion
  • Sulfate ion
14808-79-8
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ARSB: view

Transcripts for ARSB Gene

Unigene Clusters for ARSB Gene

Arylsulfatase B:
Representative Sequences:

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

No ASD Table

Relevant External Links for ARSB Gene

GeneLoc Exon Structure for
ARSB
ECgene alternative splicing isoforms for
ARSB

Expression for ARSB Gene

mRNA expression in normal human tissues for ARSB Gene

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

This gene is overexpressed in Esophagus - Muscularis (x4.1).

Protein differential expression in normal tissues from HIPED for ARSB Gene

This gene is overexpressed in Bone marrow stromal cell (13.1), Heart (10.1), and Amniocyte (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARSB Gene



SOURCE GeneReport for Unigene cluster for ARSB Gene Hs.149103

genes like me logo Genes that share expression patterns with ARSB: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for ARSB Gene

Orthologs for ARSB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARSB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARSB 35
  • 87.87 (n)
  • 89.31 (a)
ARSB 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARSB 35
  • 89.21 (n)
  • 91.39 (a)
ARSB 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arsb 35
  • 80.04 (n)
  • 78.72 (a)
Arsb 16
Arsb 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARSB 35
  • 99.26 (n)
  • 99.5 (a)
ARSB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arsb 35
  • 81.76 (n)
  • 79.56 (a)
oppossum
(Monodelphis domestica)
Mammalia ARSB 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARSB 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARSB 35
  • 75.57 (n)
  • 78.34 (a)
ARSB 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARSB 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arsb 35
  • 68.99 (n)
  • 74.8 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100538007 35
  • 66.67 (n)
  • 73.24 (a)
ARSB 36
  • 53 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7402 37
  • 37 (a)
CG7408 37
  • 28 (a)
CG8646 37
  • 41 (a)
CG7402 35
  • 46.1 (n)
  • 40.12 (a)
CG32191 36
  • 32 (a)
ManyToMany
CG7402 36
  • 33 (a)
ManyToMany
CG7408 36
  • 30 (a)
ManyToMany
CG8646 36
  • 34 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sul-3 36
  • 33 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F03146g 35
  • 42.74 (n)
  • 33.97 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBPB10D8.02c 35
  • 46.11 (n)
  • 35.75 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
-- 36
  • 45 (a)
ManyToMany
Species with no ortholog for ARSB:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 ARSB Gene

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

Paralogs for ARSB Gene

Paralogs for ARSB Gene

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

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

Variants for ARSB Gene

Sequence variations from dbSNP and Humsavar for ARSB Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_007294 Mucopolysaccharidosis 6 (MPS6)
VAR_007295 Mucopolysaccharidosis 6 (MPS6)
VAR_007296 Mucopolysaccharidosis 6 (MPS6)
VAR_007297 Mucopolysaccharidosis 6 (MPS6)
VAR_007298 Mucopolysaccharidosis 6 (MPS6)

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

Variant ID Type Subtype PubMed ID
esv273618 CNV Insertion 20981092
esv33131 CNV Loss 17666407
esv991971 CNV Deletion 20482838
nsv823104 CNV Loss 20364138
dgv147e180 CNV Loss 20482838
esv2730345 CNV Deletion 23290073
esv1004159 CNV Deletion 20482838
esv2676226 CNV Deletion 23128226
esv26822 CNV Loss 19812545
esv32584 CNV Loss 17666407
nsv515905 CNV Loss 19592680
nsv525764 CNV Loss 19592680
nsv329776 CNV Insertion 16902084
esv1155254 CNV Insertion 17803354
esv33559 CNV Loss 17666407
dgv346n21 CNV Gain 19592680
esv2677370 CNV Deletion 23128226
esv268883 CNV Insertion 20981092
nsv882214 CNV Loss 21882294
nsv509973 CNV Loss 20534489
nsv882215 CNV Gain 21882294
esv2522674 CNV Deletion 19546169
esv2133112 CNV Deletion 18987734
esv3590 CNV Deletion 18987735
esv2730346 CNV Deletion 23290073
dgv199n6 CNV Loss 16902084
esv6759 CNV Loss 19470904
esv2028237 CNV Deletion 18987734
esv2730347 CNV Deletion 23290073
esv2657232 CNV Deletion 23128226
esv995273 CNV Deletion 20482838
esv8997 CNV Loss 19470904
esv1499345 CNV Deletion 17803354
esv26356 CNV Loss 19812545

Variation tolerance for ARSB Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.52; 95.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARSB Gene

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

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

Disorders for ARSB Gene

MalaCards: The human disease database

(10) MalaCards diseases for ARSB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucopolysaccharidosis type vi
  • mucopolysaccharidosis vi
mucopolysaccharidosis type 6, slowly progressing
  • arylsulfatase b deficiency, slowly progressing
mucopolysaccharidosis type 6, rapidly progressing
  • arylsulfatase b deficiency, rapidly progressing
mucopolysaccharidosis
  • mps
multiple sulfatase deficiency
  • mucosulfatidosis
- elite association - COSMIC cancer census association via MalaCards
Search ARSB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARSB_HUMAN
  • Mucopolysaccharidosis 6 (MPS6) [MIM:253200]: An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed. {ECO:0000269 PubMed:10036316, ECO:0000269 PubMed:10738004, ECO:0000269 PubMed:11802522, ECO:0000269 PubMed:14974081, ECO:0000269 PubMed:1550123, ECO:0000269 PubMed:1718978, ECO:0000269 PubMed:8116615, ECO:0000269 PubMed:8125475, ECO:0000269 PubMed:8541342, ECO:0000269 PubMed:8651289}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple sulfatase deficiency (MSD) [MIM:272200]: A clinically and biochemically heterogeneous disorder caused by the simultaneous impairment of all sulfatases, due to defective post-translational modification and activation. It combines features of individual sulfatase deficiencies such as metachromatic leukodystrophy, mucopolysaccharidosis, chondrodysplasia punctata, hydrocephalus, ichthyosis, neurologic deterioration and developmental delay. {ECO:0000269 PubMed:15146462}. Note=The protein represented in this entry is involved in disease pathogenesis. Arylsulfatase B activity is impaired in multiple sulfatase deficiency due to mutations in SUMF1. SUMF1 mutations result in defective post-translational modification of ARSB at residue Cys-91 that is not converted to 3-oxoalanine.

Relevant External Links for ARSB

Genetic Association Database (GAD)
ARSB
Human Genome Epidemiology (HuGE) Navigator
ARSB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARSB
genes like me logo Genes that share disorders with ARSB: view

No data available for Genatlas for ARSB Gene

Publications for ARSB Gene

  1. Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B. (PMID: 2303452) Peters C. … von Figura K. (J. Biol. Chem. 1990) 2 3 4 23 67
  2. Cell-bound IL-8 increases in bronchial epithelial cells after arylsulfatase B silencing due to sequestration with chondroitin-4-sulfate. (PMID: 19346317) Bhattacharyya S. … Tobacman J.K. (Am. J. Respir. Cell Mol. Biol. 2010) 3 23
  3. Arylsulfatase B regulates colonic epithelial cell migration by effects on MMP9 expression and RhoA activation. (PMID: 19306108) Bhattacharyya S. … Tobacman J.K. (Clin. Exp. Metastasis 2009) 3 23
  4. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. (PMID: 18406185) Garrido E. … Vilageliu L. (Mol. Genet. Metab. 2008) 3 23
  5. Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. (PMID: 18486607) Lin W.D. … Tsai F.J. (Clin. Chim. Acta 2008) 3 23

Products for ARSB Gene

Sources for ARSB Gene

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