ARSG - arylsulfatase G Gene
Also Known as USH4
Species: Homo sapiens
About ARSG
This gene has 8 transcripts (splice variants), 205 orthologues, 16 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 2.8), placenta (RPKM 2.8) and 25 other tissues.
Summary
The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated Steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]
ARSG Products (13)
| mRNA | Protein | Name |
|---|---|---|
| NM_001267727.2 | NP_001254656.1 | arylsulfatase G isoform 1 precursor |
| NM_001352899.2 | NP_001339828.1 | arylsulfatase G isoform 1 precursor |
| NM_001352900.2 | NP_001339829.1 | arylsulfatase G isoform 1 precursor |
| NM_001352901.2 | NP_001339830.1 | arylsulfatase G isoform 1 precursor |
| NM_001352902.2 | NP_001339831.1 | arylsulfatase G isoform 1 precursor |
| NM_001352903.2 | NP_001339832.1 | arylsulfatase G isoform 2 precursor |
| NM_001352904.2 | NP_001339833.1 | arylsulfatase G isoform 2 precursor |
| NM_001352905.2 | NP_001339834.1 | arylsulfatase G isoform 2 precursor |
| NM_001352906.2 | NP_001339835.1 | arylsulfatase G isoform 2 precursor |
| NM_001352907.2 | NP_001339836.1 | arylsulfatase G isoform 2 precursor |
| NM_001352909.2 | NP_001339838.1 | arylsulfatase G isoform 3 |
| NM_001352910.2 | NP_001339839.1 | arylsulfatase G isoform 4 precursor |
| NM_014960.5 | NP_055775.2 | arylsulfatase G isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables N-sulfoglucosamine-3-sulfatase activity |
IDA
IDA: Inferred from direct assay
|
22689975 | GOA |
| NOT enables arylsulfatase activity |
IDA
IDA: Inferred from direct assay
|
12461688 | GOA |
| enables arylsulfatase activity |
IDA
IDA: Inferred from direct assay
|
18283100 | GOA |
| enables arylsulfatase activity |
IMP
IMP: Inferred from mutant phenotype
|
29300381 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in sulfur compound metabolic process |
IDA
IDA: Inferred from direct assay
|
18283100 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
12461688 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
18283100 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
18283100 | GOA |
ARSG Protein Structure
Sulfatase: Sulfatase (36 - 377)
Sulfatase_C: C-terminal region of aryl-sulfatase (403 - 522)
- 0
- 100
- 200
- 300
- 400
- 500
- 525 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
arylsulfatase G |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Usher Syndrome, Type Iv |
|
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| Usher Syndrome, Type Iiia |
|
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| Usher Syndrome |
|
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| Blepharospasm |
|
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| Ceroid Lipofuscinosis, Neuronal, 6b |
|
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| Mucopolysaccharidosis, Type Iiid |
|
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| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
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| Mucopolysaccharidosis, Type Iiic |
|
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| Usher Syndrome, Type I |
|
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| Focal Hand Dystonia |
|
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| Cranio-Facial Dystonia |
|
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| Mucopolysaccharidosis, Type Iiib |
|
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| Neuronal Ceroid Lipofuscinosis |
|
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| Mucopolysaccharidosis, Type Iiia |
|
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| Sensorineural Hearing Loss |
|
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| Mucopolysaccharidosis Iii |
|
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| Myoclonic Epilepsy Of Lafora |
|
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| Retinitis Pigmentosa |
|
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| Progressive Myoclonus Epilepsy |
|
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| Fundus Dystrophy |
|
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| Cone-Rod Dystrophy 2 |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | ARSG | VGNC | VGNC:104580 |
| Canis familiaris | ARSG | VGNC | VGNC:51920 |
| Bos taurus | ARSG | VGNC | VGNC:55034 |
| Felis catus | ARSG | VGNC | VGNC:97358 |
| Mus musculus | ARSG | MGD | MGI:1921258 |
| Rattus norvegicus | ARSG | RGD | RGD:1306571 |
| Others | ARSG | NCBI |