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ARSB arylsulfatase B [ Homo sapiens (human) ]

Gene ID: 411, updated on 8-May-2016
Official Symbol
ARSBprovided by HGNC
Official Full Name
arylsulfatase Bprovided by HGNC
Primary source
HGNC:HGNC:714
See related
Ensembl:ENSG00000113273 HPRD:08358; 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 targetted 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, Jul 2008]
Orthologs
Location:
5q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 lipoma HMGIC fusion partner-like 2 Neighboring gene high mobility group box 1 pseudogene 21 Neighboring gene 40S ribosomal protein S3a-like Neighboring gene IMPACT pseudogene Neighboring gene dimethylglycine dehydrogenase Neighboring gene betaine--homocysteine S-methyltransferase 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

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
    5001..214326
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000046.3NP_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, J05225, M32373
    Consensus CDS
    CCDS4043.1
    UniProtKB/Swiss-Prot
    P15848
    UniProtKB/TrEMBL
    A0A024RAJ9
    Related
    ENSP00000264914, OTTHUMP00000135268, ENST00000264914, OTTHUMT00000226932
    Conserved Domains (3) summary
    COG3119
    Location:41489
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45361
    Sulfatase; Sulfatase
    pfam14707
    Location:432532
    Sulfatase_C; C-terminal region of aryl-sulfatase
  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, OTTHUMP00000222674, ENST00000396151, OTTHUMT00000370424
    Conserved Domains (2) summary
    COG3119
    Location:41361
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45361
    Sulfatase; Sulfatase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    78777209..78986534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543390.1XP_011541692.1  

    See identical proteins and their annotated locations for XP_011541692.1

    UniProtKB/Swiss-Prot
    P15848
    UniProtKB/TrEMBL
    A0A024RAJ9
    Conserved Domains (3) summary
    COG3119
    Location:41489
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45361
    Sulfatase; Sulfatase
    pfam14707
    Location:432532
    Sulfatase_C; C-terminal region of aryl-sulfatase
  2. XM_005248506.3XP_005248563.1  

    Conserved Domains (2) summary
    COG3119
    Location:41361
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45361
    Sulfatase; Sulfatase
  3. XM_011543392.1XP_011541694.1  

    Conserved Domains (2) summary
    COG3119
    Location:41361
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45361
    Sulfatase; Sulfatase
  4. XM_011543391.1XP_011541693.1  

    Conserved Domains (2) summary
    COG3119
    Location:41361
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45361
    Sulfatase; Sulfatase
  5. XM_011543393.1XP_011541695.1  

    Conserved Domains (2) summary
    COG3119
    Location:41361
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45361
    Sulfatase; Sulfatase
  6. XM_006714615.2XP_006714678.1  

    Conserved Domains (2) summary
    COG3119
    Location:41299
    AslA; Arylsulfatase A or related enzyme [Inorganic ion transport and metabolism]
    pfam00884
    Location:45297
    Sulfatase; Sulfatase

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

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