ARSB
Arylsulfatase B
Also known as: ARSB_HUMAN, ASB
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P15848
- Gene
- ARSB
- Ensembl
- ENSG00000113273
- Chromosome
- 5
- Canonical length
- 533 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
533 residues, UniProt reviewed canonical sequence.
>P15848|ARSB
1 MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
61 GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
121 CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
181 CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
241 VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
301 NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
361 ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP
421 EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD
481 PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARSB can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- kidney: 20 nTPM
- smooth muscle: 13 nTPM
- placenta: 11 nTPM
- blood vessel: 8.5 nTPM
- heart muscle: 7.8 nTPM
- bone marrow: 7.7 nTPM
Single-cell type
- proximal tubule cells: 233 nCPM
- microglia: 145 nCPM
- neutrophil progenitors: 139 nCPM
- kupffer cells: 134 nCPM
- oligodendrocyte progenitor cells: 134 nCPM
- macrophages: 126 nCPM
Immune cell
- eosinophil: 26 nTPM
- basophil: 19 nTPM
- classical monocyte: 8.3 nTPM
- myeloid DC: 7.8 nTPM
- intermediate monocyte: 6.7 nTPM
- non-classical monocyte: 5.7 nTPM
Brain region
- thalamus: 22 nTPM
- midbrain: 22 nTPM
- white matter: 20 nTPM
- cerebral cortex: 20 nTPM
- medulla oblongata: 20 nTPM
- hippocampal formation: 20 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARSB.
Disease | AllUniProt
Conditions ARSB is implicated in, by any mechanism.
- Mucopolysaccharidosis 6 (MPS6) MIM:253200
- Multiple sulfatase deficiency (MSD) MIM:272200
Disease | GeneticClinVar
258 pathogenic / likely-pathogenic of 1,028 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Mucopolysaccharidosis type 6
- Mucopolysaccharidosis, type vi, severe
- ARSB-related disorder
- Metachromatic leukodystrophy
- Mucopolysaccharidosis type 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.06
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.63
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagy
- chondroitin sulfate proteoglycan catabolic process
- lysosomal transport
- lysosome organization
- positive regulation of neuron projection development
- regulation of epithelial cell migration
- response to estrogen
- response to methylmercury
- response to nutrient
- response to pH
- colon epithelial cell migration
Molecular functions
- arylsulfatase activity
- metal ion binding
- N-acetylgalactosamine-4-sulfatase activity
- sulfuric ester hydrolase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARSB as an antibody target. Whether an autoantibody or antibody against ARSB could matter depends on whether native ARSB is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARSB is annotated at the cell surface, where native ARSB is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ARSB as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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