Reactome | ARSB Y86del [lysosomal lumen]

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

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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

HGNC:714 ARSB

KEGG:hsa: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

2863998

2863999

2864000

2864002

2864003

2864004

2864005

2864006

2864007

2864008

2864009

2864010

2864011

2864012

2864076

37795_at

411

79310_r_at

8112807

85876_at

A_24_P205213

GE57934

GO:0003824

GO:0003943

GO:0004065

GO:0005576

GO:0005764

GO:0005773

GO:0005788

GO:0006914

GO:0007040

GO:0007041

GO:0007584

GO:0008484

GO:0009268

GO:0009986

GO:0010632

GO:0010976

GO:0016787

GO:0035578

GO:0043202

GO:0043226

GO:0043627

GO:0046872

GO:0048870

GO:0051597

GO:0061580

GO:0070062

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

ARSB mutants [lysosomal lumen] (Homo sapiens)

Other forms of this molecule

ARSB [azurophil granule lumen]

ARSB [extracellular region]

ARSB [ficolin-1-rich granule lumen]

ARSB [endoplasmic reticulum lumen]

OxA-ARSB [endoplasmic reticulum lumen]

OxA-ARSB [lysosomal lumen]

ARSB H393P [lysosomal lumen]

ARSB R95Q [lysosomal lumen]

ARSB G144R [lysosomal lumen]

ARSB P116H [lysosomal lumen]

ARSB C117R [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

OpenTargets

ENSG00000113273

ENSEMBL

ENSP00000264914, ENST00000396151, ENST00000264914, ENSP00000379455

HPA

ENSG00000113273-ARSB

PRO

P15848

Pharos - Targets

P15848

Orphanet

ARSB

GlyGen

P15848

PDB

1FSU

HMDB Protein

HMDBP00321

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P01185 AVP	10	AVP(20-28) [extracellular region] (R-HSA-388474) AVP(20-28) [cytosol] (R-HSA-879509) AVP E47del [extracellular region] (R-HSA-5621396) AVP P7L [extracellular region] (R-HSA-5621460) AVP C67* [extracellular region] (R-HSA-5621431) AVP V67A [extracellular region] (R-HSA-5621446) AVP A1T [extracellular region] (R-HSA-5621473) AVP Y2H [extracellular region] (R-HSA-5621449) AVP G23R [extracellular region] (R-HSA-5621464) AVP(20-28) [clathrin-coated endocytic vesicle membrane] (R-HSA-8869075)	0.527	2
UniProt:P59665 DEFA1	9	DEFA1(20-94) [Golgi lumen] (R-HSA-1467282) DEFA1(66-94) [Golgi lumen] (R-HSA-975663) DEFA1(20-65) [Golgi lumen] (R-HSA-8864970) DEFA1(1-94) [Golgi lumen] (R-HSA-1467215) DEFA1(66-94) [extracellular region] (R-HSA-1461998) DEFA1(66-94) [azurophil granule lumen] (R-HSA-1470038) DEFA1(65-94) [extracellular region] (R-HSA-1462022) omega-N-(ADP-ribosyl)-L-arginine-DEFA1(65-94) [extracellular region] (R-HSA-1972397) DEFA1(65-94) [azurophil granule lumen] (R-HSA-1470053)	0.527	2
UniProt:Q03405 PLAUR	7	PLAUR [endoplasmic reticulum membrane] (R-HSA-162703) GPI-PLAUR [endoplasmic reticulum membrane] (R-HSA-162687) PLAUR(306-335) [endoplasmic reticulum lumen] (R-HSA-162707) PLAUR(23-335) [endoplasmic reticulum membrane] (R-HSA-162866) GPI-PLAUR [plasma membrane] (R-HSA-158946) PLAUR [plasma membrane] (R-HSA-6806165) GPI-PLAUR [specific granule membrane] (R-HSA-6806143)	0.527	2