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    ARSB arylsulfatase B [ Homo sapiens (human) ]

    Gene ID: 411, updated on 8-Oct-2017
    Official Symbol
    ARSBprovided by HGNC
    Official Full Name
    arylsulfatase Bprovided by HGNC
    Primary source
    HGNC:HGNC:714
    See related
    Ensembl:ENSG00000113273 MIM:611542; Vega:OTTHUMG00000108129
    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]
    Orthologs
    Location:
    5q14.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (78777209..78986534, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (78073032..78282357, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene LHFPL tetraspan subfamily member 2 Neighboring gene uncharacterized LOC107986425 Neighboring gene high mobility group box 1 pseudogene 21 Neighboring gene IMPACT pseudogene Neighboring gene dimethylglycine dehydrogenase Neighboring gene betaine--homocysteine S-methyltransferase 2

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of selenium concentrations.
    NHGRI GWA Catalog
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    NHGRI GWA Catalog
    Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
    NHGRI GWA Catalog
    Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
    NHGRI GWA Catalog
    • CS/DS degradation, organism-specific biosystem (from REACTOME)
      CS/DS degradation, organism-specific biosystemLysosomal degradation of glycoproteins is part of the cellular homeostasis of glycosylation (Winchester 2005). The steps outlined below describe the degradation of chondroitin sulfate and dermatan su...
    • Chondroitin sulfate degradation, organism-specific biosystem (from KEGG)
      Chondroitin sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Chondroitin sulfate degradation, conserved biosystem (from KEGG)
      Chondroitin sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystem (from REACTOME)
      Chondroitin sulfate/dermatan sulfate metabolism, organism-specific biosystemChondroitin sulfate (CS) is a sulfated glycosaminoglycan (GAG). CS chains are unbranched polysaccharides of varying length containing two alternating monosaccharides: D-glucuronic acid (GlcA) and N-a...
    • Dermatan sulfate degradation, organism-specific biosystem (from KEGG)
      Dermatan sulfate degradation, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Dermatan sulfate degradation, conserved biosystem (from KEGG)
      Dermatan sulfate degradation, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystem (from REACTOME)
      Gamma carboxylation, hypusine formation and arylsulfatase activation, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Glycosaminoglycan degradation, organism-specific biosystem (from KEGG)
      Glycosaminoglycan degradation, organism-specific biosystem
      Glycosaminoglycan degradation
    • Glycosaminoglycan degradation, conserved biosystem (from KEGG)
      Glycosaminoglycan degradation, conserved biosystem
      Glycosaminoglycan degradation
    • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
    • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
    • The activation of arylsulfatases, organism-specific biosystem (from REACTOME)
      The activation of arylsulfatases, organism-specific biosystemSulfatase activity requires a unique posttranslational modification (PTM) of a catalytic cysteine residue into a formylglycine. This modification is impaired in patients with multiple sulfatase defic...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    N-acetylgalactosamine-4-sulfatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    N-acetylgalactosamine-4-sulfatase activity TAS
    Traceable Author Statement
    more info
     
    arylsulfatase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    central nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    chondroitin sulfate catabolic process TAS
    Traceable Author Statement
    more info
     
    colon epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    lysosomal transport TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosome organization TAS
    Traceable Author Statement
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to estrogen IEA
    Inferred from Electronic Annotation
    more info
     
    response to methylmercury IEA
    Inferred from Electronic Annotation
    more info
     
    response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    response to pH IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    cell surface ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosome TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    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

    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
      5748..214326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000046.4NP_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)
      AC020937, AC025755, AC114963, M32373
      Consensus CDS
      CCDS4043.1
      UniProtKB/Swiss-Prot
      P15848
      UniProtKB/TrEMBL
      A0A024RAJ9
      Related
      ENSP00000264914.4, OTTHUMP00000135268, ENST00000264914.8
      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_198709.2NP_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, OTTHUMP00000222674, ENST00000396151.7, OTTHUMT00000370424
      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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      78777209..78986534 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_017009471.1XP_016864960.1  arylsulfatase B isoform X2

    3. XM_011543392.2XP_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_011543391.2XP_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_011543393.1XP_011541695.1  arylsulfatase B isoform X5

      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_001742066.1 RNA Sequence

    2. XR_001742065.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      77506051..77714858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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