Reactome | GUSB R216W [lysosomal lumen]

GUSB R216W [lysosomal lumen]

Stable Identifier

R-HSA-2318584

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

lysosomal lumen

Synonyms

Beta-glucuronidase, BGLR_HUMAN, p.Arg216Try GUSB

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External Reference Information

External Reference

UniProt:P08236 GUSB

Gene Names

GUSB

Chain

signal peptide:1-22, chain:23-651

Reference Genes

BioGPS Gene:2990 GUSB

COSMIC (genes):GUSB GUSB

CTD Gene:2990 GUSB

dbSNP Gene:2990 GUSB

ENSEMBL:ENSG00000169919 GUSB

HGNC:4696 GUSB

KEGG Gene (Homo sapiens):2990 GUSB

Monarch:2990 GUSB

NCBI Gene:2990 GUSB

OMIM:611499 GUSB

UCSC:P08236 GUSB

Reference Transcript

Other Identifiers

11719271_s_at

17058176

202605_at

2868809

2946613

2990

3004396

3053693

3053694

3053695

3053696

3053697

3053698

3053699

3053700

3053706

3053707

3053709

3053711

3053713

3053715

3053717

3053722

3053723

3053724

3053725

3053729

33308_at

8139859

A_23_P334608

GE61184

GO:0002376

GO:0003674

GO:0004553

GO:0004566

GO:0005102

GO:0005575

GO:0005576

GO:0005615

GO:0005622

GO:0005737

GO:0005764

GO:0005773

GO:0005975

GO:0006027

GO:0006810

GO:0008150

GO:0008152

GO:0009056

GO:0016020

GO:0016192

GO:0016787

GO:0016798

GO:0019391

GO:0019904

GO:0030214

GO:0030246

GO:0031410

GO:0035578

GO:0043202

GO:0043226

GO:0043231

GO:0043312

GO:0044281

GO:0070062

GO:1904813

HMNXSV003041271

ILMN_1669878

M15182_at

PH_hs_0023271

PH_hs_0032345

TC07001457.hg

g4504222_3p_at

Participates

as a member of

GUSB mutants [lysosomal lumen] (Homo sapiens)

Other forms of this molecule

GUSB R611W [lysosomal lumen]

GUSB A354V [lysosomal lumen]

GUSB R356* [lysosomal lumen]

GUSB [azurophil granule lumen]

GUSB [extracellular region]

GUSB [ficolin-1-rich granule lumen]

GUSB [lysosomal lumen]

GUSB S52F [lysosomal lumen]

Modified Residues

Name

L-arginine 216 replaced with L-tryptophan

Coordinate

216

PsiMod

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

L-tryptophan residue [MOD:00027]

A protein modification that effectively converts a source amino acid residue to L-tryptophan.

Disease

Name	Identifier	Synonyms
mucopolysaccharidosis VII	DOID:12803	mucopolysaccharidosis type VII, Mucopolysaccharidosis, MPS-VII (disorder), deficiency of beta-glucuronidase (disorder), mucopolysaccharidosis type VII

Cross References

RefSeq

XP_005250354.1, NP_001280034.1, NP_001280033.1, NP_000172.2, NP_001271219.1

OpenTargets

ENSG00000169919

ZINC - Substances

BGLR_HUMAN

ZINC - Biogenic

BGLR_HUMAN

ZINC target

P08236

PRO

P08236

GlyGen

P08236

PDB

1BHG, 3HN3

GeneCards

P08236

HPA

ENSG00000169919-GUSB

Ensembl

ENSP00000302728, ENSP00000391390, ENSG00000169919, ENST00000421103, ENST00000304895

Pharos - Targets

P08236

ZINC - Predictions - Purchasable

BGLR_HUMAN

Orphanet

16179

HMDB Protein

HMDBP00839