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ARSB arylsulfatase B [ Homo sapiens (human) ]

Gene ID: 411, updated on 3-Apr-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
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Genomic context

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Location:
5q14.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (78777209..78985958, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (79258792..79467648, complement)
105.20220307 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
  • 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. Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases. Tobacman JK, et al. Int J Mol Sci, 2022 Oct 29. PMID 36361933, Free PMC Article
  2. Mucopolysaccharidosis Type VI, an Updated Overview of the Disease. D'Avanzo F, et al. Int J Mol Sci, 2021 Dec 15. PMID 34948256, Free PMC Article
  3. Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI). Marek-Yagel D, et al. Am J Med Genet A, 2021 Dec. PMID 34435740
  4. Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report. He MF, et al. BMC Ophthalmol, 2021 May 13. PMID 33985463, Free PMC Article
  5. A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism. Poterala-Hejmo A, et al. Int J Mol Sci, 2020 Jul 12. PMID 32664626, Free PMC Article

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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).
  3. Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
    Title: Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
  4. A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism.
    Title: A Possible Role for Arylsulfatase G in Dermatan Sulfate Metabolism.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Findings indicate that lower arylsulfatase B (ARSB) is associated with prostate cancer recurrence.
    Title: Arylsulfatase B is reduced in prostate cancer recurrences.
Submit: New GeneRIF Correction See all GeneRIFs (43)

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
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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)

Genotypes

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_2023_10

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

Gene LinkOut

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