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    ARSB arylsulfatase B [ Homo sapiens (human) ]

    Gene ID: 411, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ARSBprovided by HGNC
    Official Full Name
    arylsulfatase Bprovided by HGNC
    Primary source
    HGNC:HGNC:714
    See related
    Ensembl:ENSG00000113273 MIM:611542; AllianceGenome:HGNC:714
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ASB; G4S; MPS6
    Summary
    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 targeted 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, Dec 2016]
    Expression
    Ubiquitous expression in kidney (RPKM 2.5), placenta (RPKM 1.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ARSB in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (78777209..78985958, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (79258792..79467648, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78073032..78281781, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene LHFPL tetraspan subfamily member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16124 Neighboring gene uncharacterized LOC124900191 Neighboring gene high mobility group box 1 pseudogene 21 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:77995230-77996429 Neighboring gene Sharpr-MPRA regulatory region 2428 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22719 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:78105507-78106007 Neighboring gene Sharpr-MPRA regulatory region 14877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78270456-78270975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:78270976-78271494 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16127 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:78293710-78294909 Neighboring gene IMPACT pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr5:78317526-78318027 Neighboring gene dimethylglycine dehydrogenase Neighboring gene betaine--homocysteine S-methyltransferase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Garrido E, et al. Mol Genet Metab, 2008 Jul. PMID 18406185
    2. Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase. O'Brien JF, et al. Biochem Biophys Res Commun, 1974 Oct 8. PMID 4215420
    3. Arylsulfatase B improves locomotor function after mouse spinal cord injury. Yoo M, et al. PLoS One, 2013. PMID 23520469, Free PMC Article
    4. Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity. Nouri N, et al. Iran Biomed J, 2012. PMID 23023219, Free PMC Article
    5. Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. Bartolomeo R, et al. J Inherit Metab Dis, 2013 Mar. PMID 22971959, Free PMC Article

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B) Regulates PD-L1 Expression in Melanoma by an HDAC3-Mediated Epigenetic Mechanism.
      Title: N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B) Regulates PD-L1 Expression in Melanoma by an HDAC3-Mediated Epigenetic Mechanism.
    2. Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.
      Title: Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases.
    3. Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).
      Title: Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).
    4. Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
      Title: Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
    5. A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism.
      Title: A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism.
    6. Data of this study confirms the existence of mutational heterogeneity in the ARSB between Iranian patients.
      Title: Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
    7. Sequencing analysis of ARSB gene revealed four pathogenic homozygote mutations, including a novel nonsense mutation c.281C>A (p.Ser94X) in 9 patients, as well as, a known nonsense mutation c.753C>G (p.Try251X) in 3 cases, and two missense mutations c.904G>A (p.Gly302Arg) and c.454C>T (p.Arg152Trp) in two cases. The type of mutations affected the severity patient's phenotypes.
      Title: Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
    8. Decreased ARSB expression is associated with cystic fibrosis.
      Title: Increased GPNMB, phospho-ERK1/2, and MMP-9 in cystic fibrosis in association with reduced arylsulfatase B.
    9. Low ARSB expression is associated with prostate cancer.
      Title: Decline in arylsulfatase B expression increases EGFR expression by inhibiting the protein-tyrosine phosphatase SHP2 and activating JNK in prostate cells.
    10. The outcome of this study highlight a potential role for arylsulfatase B in promoting atherosclerosis-related stroke and warrants its further investigation as a therapeutic target that could be of potential clinical benefit.
      Title: Upregulation of arylsulfatase B in carotid atherosclerosis is associated with symptoms of cerebral embolization.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mucopolysaccharidosis type 6
    MedGen: C0026709 OMIM: 253200 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of selenium concentrations.
    EBI GWAS Catalog
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    EBI GWAS Catalog
    Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
    EBI GWAS Catalog
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables N-acetylgalactosamine-4-sulfatase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables arylsulfatase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in colon epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosomal transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in lysosome organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to estrogen IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to methylmercury IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to pH IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in lysosome TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arylsulfatase B
    Names
    N-acetylgalactosamine-4-sulfatase
    NP_000037.2
    NP_942002.1
    XP_011541692.1
    XP_011541693.1
    XP_011541694.1
    XP_011541695.1
    XP_016864960.1
    XP_047273136.1
    XP_054208563.1
    XP_054208564.1
    XP_054208565.1
    XP_054208566.1
    XP_054208567.1
    XP_054208568.1
    XP_054208569.1
    XP_054208570.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007089.1 RefSeqGene

      Range
      6225..214326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000046.5 → NP_000037.2  arylsulfatase B isoform 1 precursor

      See identical proteins and their annotated locations for NP_000037.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC025755, AC114963, M32373
      Consensus CDS
      CCDS4043.1
      UniProtKB/Swiss-Prot
      B2RC20, P15848, Q8N322, Q9UDI9
      Related
      ENSP00000264914.4, ENST00000264914.10
      Conserved Domains (2) summary
      COG3119
      Location:41 → 489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45 → 488
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    2. NM_198709.3 → NP_942002.1  arylsulfatase B isoform 2 precursor

      See identical proteins and their annotated locations for NP_942002.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 3' sequence, as compared to variant 1. The resulting isoform 2 has a distinct and shorter C-terminus, as compared to isoform 1.
      Source sequence(s)
      AC020937, AK290865, BC029051
      Consensus CDS
      CCDS43334.1
      UniProtKB/TrEMBL
      A8K4A0
      Related
      ENSP00000379455.3, ENST00000396151.7
      Conserved Domains (2) summary
      COG3119
      Location:41 → 361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45 → 402
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      78777209..78985958 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543390.2 → XP_011541692.1  arylsulfatase B isoform X1

      See identical proteins and their annotated locations for XP_011541692.1

      UniProtKB/Swiss-Prot
      B2RC20, P15848, Q8N322, Q9UDI9
      Conserved Domains (2) summary
      COG3119
      Location:41 → 489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45 → 488
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    2. XM_017009471.3 → XP_016864960.1  arylsulfatase B isoform X2

      UniProtKB/TrEMBL
      A8K4A0

    3. XM_011543392.4 → XP_011541694.1  arylsulfatase B isoform X4

      UniProtKB/TrEMBL
      A8K4A0
      Conserved Domains (2) summary
      COG3119
      Location:41 → 361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45 → 402
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    4. XM_011543391.4 → XP_011541693.1  arylsulfatase B isoform X3

      UniProtKB/TrEMBL
      A8K4A0
      Conserved Domains (2) summary
      COG3119
      Location:41 → 361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45 → 402
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    5. XM_011543393.3 → XP_011541695.1  arylsulfatase B isoform X5

      UniProtKB/TrEMBL
      A0A2U3U034
      Related
      ENSP00000456339.2, ENST00000565165.2
      Conserved Domains (2) summary
      COG3119
      Location:41 → 361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45 → 381
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    6. XM_047417180.1 → XP_047273136.1  arylsulfatase B isoform X6

    RNA

    1. XR_001742066.3 RNA Sequence

    2. XR_001742065.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      79258792..79467648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352589.1 → XP_054208564.1  arylsulfatase B isoform X1

    2. XM_054352588.1 → XP_054208563.1  arylsulfatase B isoform X1

    3. XM_054352590.1 → XP_054208565.1  arylsulfatase B isoform X1

    4. XM_054352591.1 → XP_054208566.1  arylsulfatase B isoform X2

    5. XM_054352593.1 → XP_054208568.1  arylsulfatase B isoform X4

    6. XM_054352592.1 → XP_054208567.1  arylsulfatase B isoform X3

    7. XM_054352594.1 → XP_054208569.1  arylsulfatase B isoform X5

    8. XM_054352595.1 → XP_054208570.1  arylsulfatase B isoform X6

    RNA

    1. XR_008487120.1 RNA Sequence

    2. XR_008487119.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15848.1 GenPept UniProtKB/Swiss-Prot:P15848

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