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    ARSB arylsulfatase B [ Homo sapiens (human) ]

    Gene ID: 411, updated on 8-Jul-2021

    Summary

    Official Symbol
    ARSBprovided by HGNC
    Official Full Name
    arylsulfatase Bprovided by HGNC
    Primary source
    HGNC:HGNC:714
    See related
    Ensembl:ENSG00000113273 MIM:611542
    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
    NEW
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    Genomic context

    See ARSB in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (78777209..78986087, complement)
    105.20201022 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 NFE2L2 motif-containing MPRA enhancer 185 Neighboring gene Sharpr-MPRA regulatory region 2428 Neighboring gene IMPACT pseudogene Neighboring gene dimethylglycine dehydrogenase Neighboring gene betaine--homocysteine S-methyltransferase 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study of selenium concentrations.
    GeneReviews: Not available
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    GeneReviews: Not available
    Mucopolysaccharidosis type 6
    MedGen: C0026709 OMIM: 253200 GeneReviews: Not available
    Compare labs
    Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
    GeneReviews: Not available
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 central nervous system development 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 Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000046.5NP_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
      P15848
      UniProtKB/TrEMBL
      A0A024RAJ9
      Related
      ENSP00000264914.4, ENST00000264914.10
      Conserved Domains (2) summary
      COG3119
      Location:41489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45488
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    2. NM_198709.3NP_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/Swiss-Prot
      P15848
      UniProtKB/TrEMBL
      A8K4A0
      Related
      ENSP00000379455.3, ENST00000396151.7
      Conserved Domains (2) summary
      COG3119
      Location:41361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45402
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      78777209..78986087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for XP_011541692.1

      UniProtKB/Swiss-Prot
      P15848
      UniProtKB/TrEMBL
      A0A024RAJ9
      Conserved Domains (2) summary
      COG3119
      Location:41489
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45488
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    2. XM_017009471.2XP_016864960.1  arylsulfatase B isoform X2

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

      Conserved Domains (2) summary
      COG3119
      Location:41361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45402
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    4. XM_011543391.3XP_011541693.1  arylsulfatase B isoform X3

      Conserved Domains (2) summary
      COG3119
      Location:41361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45402
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B
    5. XM_011543393.2XP_011541695.1  arylsulfatase B isoform X5

      Related
      ENSP00000456339.2, ENST00000565165.2
      Conserved Domains (2) summary
      COG3119
      Location:41361
      AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
      cd16029
      Location:45381
      4-S; N-acetylgalactosamine 4-sulfatase, also called arylsulftase B

    RNA

    1. XR_001742066.2 RNA Sequence

    2. XR_001742065.2 RNA Sequence

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