ARSB - arylsulfatase B Gene
Also Known as ASB; G4S; MPS6
Species: Homo sapiens
About ARSB
This gene has 6 transcripts (splice variants), 202 orthologues, 16 paralogues and is associated with 4 phenotypes. Ubiquitous expression in kidney (RPKM 2.5), placenta (RPKM 1.5) and 25 other tissues.
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]
ARSB Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000046.5 | NP_000037.2 | arylsulfatase B isoform 1 precursor |
| NM_198709.3 | NP_942002.1 | arylsulfatase B isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables N-acetylgalactosamine-4-sulfatase activity |
IDA
IDA: Inferred from direct assay
|
19306108 | GOA |
| Biological Process GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| involved in colon epithelial cell migration |
IMP
IMP: Inferred from mutant phenotype
|
19306108 | GOA |
| involved in regulation of epithelial cell migration |
IMP
IMP: Inferred from mutant phenotype
|
19306108 | GOA |
ARSB Protein Structure
Sulfatase: Sulfatase (45 - 363)
- 0
- 100
- 200
- 300
- 400
- 500
- 533 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
arylsulfatase B |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mucopolysaccharidosis, Type Vi |
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| Mucopolysaccharidosis Type 6, Slowly Progressing |
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| Mucopolysaccharidosis Type 6, Rapidly Progressing |
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| Metachromatic Leukodystrophy |
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| Multiple Sulfatase Deficiency |
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| Mucopolysaccharidosis-Plus Syndrome |
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| Mucopolysaccharidoses |
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| Scheie Syndrome |
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| Mucopolysaccharidosis, Type Iva |
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| Papilledema |
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| Polyposis Syndrome, Hereditary Mixed, 2 |
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| Hurler Syndrome |
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| Lysosomal Storage Disease |
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| Mucopolysaccharidosis Iv |
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| Leukodystrophy |
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| Mucopolysaccharidosis, Type Vii |
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| Mucopolysaccharidosis, Type Iiib |
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| Mucopolysaccharidosis, Type Ivb |
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| Mucopolysaccharidosis, Type Ii |
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| Mucopolysaccharidosis, Type Iiid |
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| Mucopolysaccharidosis Iii |
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| Mucolipidosis Iii Alpha/Beta |
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| Hurler-Scheie Syndrome |
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| Mucopolysaccharidosis, Type Iiia |
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| Otosalpingitis |
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| Mucopolysaccharidosis, Type Iiic |
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| Mannosidosis, Alpha B, Lysosomal |
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| Nerve Compression Syndrome |
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| Umbilical Hernia |
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| Glycoproteinosis |
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| Ichthyosis |
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| Gm1 Gangliosidosis |
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| Cystic Fibrosis |
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| Mucolipidosis |
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| Inguinal Hernia |
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| Neuronal Ceroid Lipofuscinosis |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ARSB | VGNC | VGNC:26176 |
| Canis familiaris | ARSB | VGNC | VGNC:38143 |
| Macaca mulatta | ARSB | VGNC | VGNC:70023 |
| Mus musculus | ARSB | MGD | MGI:88075 |
| Rattus norvegicus | ARSB | RGD | RGD:2158 |
| Felis catus | ARSB | VGNC | VGNC:102163 |
| Others | ARSB | NCBI |