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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
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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)

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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_000046.5NP_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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