GLB1 R482C [lysosomal lumen]

Stable Identifier
R-HSA-2262739
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Beta-galactosidase, BGAL_HUMAN, p.Arg482Cys GLB1
Icon
GLB1 R482C [lysosomal lumen] icon
GLB1 R482C [lysosomal lumen] icon
Locations in the PathwayBrowser
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External Reference Information
External Reference
UniProt:P16278 GLB1
Gene Names
GLB1, ELNR1
Chain
signal peptide:1-23, propeptide:24-28, chain:29-677
Reference Genes
BioGPS Gene:2720 GLB1
COSMIC (genes):GLB1 GLB1
CTD Gene:2720 GLB1
dbSNP Gene:2720 GLB1
ENSEMBL:ENSG00000170266 GLB1
HGNC:4298 GLB1
KEGG:hsa:2720 GLB1
Monarch:2720 GLB1
NCBI Gene:2720 GLB1
OMIM:611458 GLB1
UCSC:P16278 GLB1
Reference Transcript
Other Identifiers
11715657_a_at
11729661_a_at
11729662_x_at
201576_PM_s_at
201576_s_at
2668206
2668207
2668208
2668209
2668210
2668221
2668222
2668223
2668224
2668226
2668228
2668229
2668230
2668231
2668234
2668236
2668237
2668238
2668239
2668240
2668241
2668242
2668243
2668244
2668245
2668250
2668251
2668252
2668253
2668255
2668256
2668257
2668258
2668259
2668262
2668265
2668266
2668281
2668282
2668283
2720
37742_at
8086028
A_23_P61529
A_23_P61531
GE57941
GO:0003824
GO:0004553
GO:0004565
GO:0005515
GO:0005576
GO:0005615
GO:0005737
GO:0005764
GO:0005773
GO:0005794
GO:0005975
GO:0006629
GO:0006790
GO:0016787
GO:0016798
GO:0016936
GO:0019388
GO:0030163
GO:0030200
GO:0035578
GO:0042340
GO:0042803
GO:0043202
GO:0043226
GO:0043231
GO:0046479
GO:0048471
GO:0051413
GO:0070062
GO:1901135
GO:1904016
GO:1904813
HMNXSV003034032
ILMN_1735155
ILMN_2289111
ILMN_2397721
M34423_at
PH_hs_0026028
g10834965_3p_a_at
Participates
as a member of
Other forms of this molecule
GLB1 [azurophil granule lumen]
GLB1 [extracellular region]
GLB1 [ficolin-1-rich granule lumen]
GLB1 [lysosomal lumen]
GLB1 W273L [lysosomal lumen]
GLB1 Y83C [lysosomal lumen]
GLB1 W509C [lysosomal lumen]
Modified Residues
Name
L-arginine 482 replaced with L-cysteine
Coordinate
482
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis DOID:12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Cross References
OpenTargets
ENSEMBL
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
IntEnz
HPA
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (5)
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