ARSB Y86del [lysosomal lumen]

Stable Identifier
R-HSA-2314606
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Arylsulfatase B, ARSB_HUMAN, p.Tyr86del ARSB
Icon
ARSB Y86del [lysosomal lumen] icon
ARSB Y86del [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P15848 ARSB
Gene Names
ARSB
Chain
signal peptide:1-36, chain:37-533
Reference Genes
BioGPS Gene:411 ARSB
COSMIC (genes):ARSB ARSB
CTD Gene:411 ARSB
dbSNP Gene:411 ARSB
ENSEMBL:ENSG00000113273 ARSB
ENSEMBL:ENSG00000113273.17 ARSB
HGNC:714 ARSB
KEGG Gene (Homo sapiens):411 ARSB
Monarch:411 ARSB
NCBI Gene:411 ARSB
OMIM:611542 ARSB
UCSC:P15848 ARSB
Reference Transcript
Other Identifiers
11731767_at
11731768_x_at
11732739_a_at
11732740_at
1554030_PM_at
1554030_at
1554032_PM_at
1554032_at
16997519
206129_PM_s_at
206129_s_at
232197_3p_x_at
232197_PM_x_at
232197_x_at
2863980
2863981
2863982
2863983
2863984
2863990
2863991
2863992
2863996
2864000
2864002
2864003
2864004
2864005
2864006
2864007
2864008
2864009
2864010
2864012
37795_at
411
79310_r_at
8112807
85876_at
A_24_P205213
GE57934
GO:0003824
GO:0003943
GO:0004065
GO:0005576
GO:0005615
GO:0005764
GO:0005773
GO:0005783
GO:0005788
GO:0006914
GO:0007040
GO:0007041
GO:0007584
GO:0008484
GO:0009268
GO:0009986
GO:0010632
GO:0010976
GO:0016787
GO:0030154
GO:0031410
GO:0035578
GO:0043202
GO:0043226
GO:0043627
GO:0046872
GO:0048856
GO:0048870
GO:0051597
GO:0061580
GO:0070062
GO:0110165
GO:1904813
HMNXSV003049700
Hs2.1256.2.A1_3p_at
Hs2.1256.2.A2_3p_at
ILMN_1668727
ILMN_1712587
ILMN_1722045
M32373_at
PH_hs_0022654
g4557332_3p_a_at
Participates
as a member of
Other forms of this molecule
ARSB C117R [lysosomal lumen]
ARSB [endoplasmic reticulum lumen]
OxA-ARSB [endoplasmic reticulum lumen]
OxA-ARSB [lysosomal lumen]
ARSB [ficolin-1-rich granule lumen]
ARSB [extracellular region]
ARSB [azurophil granule lumen]
ARSB H393P [lysosomal lumen]
ARSB R95Q [lysosomal lumen]
ARSB G144R [lysosomal lumen]
ARSB P116H [lysosomal lumen]
Modified Residues
Name
Deletion of residues 86 to 86
Disease
Name Identifier Synonyms
mucopolysaccharidosis VI DOID:12800 Maroteaux-Lamy syndrome, arylsulfatase B deficiency, Maroteaux - Lamy syndrome, Maroteaux-Lamy syndrome (disorder), deficiency of N-acetylgalactosamine-4-sulfatase (disorder)
Cross References
RefSeq
OpenTargets
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
HMDB Protein
PDB
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