GLB1 W273L [lysosomal lumen]

Stable Identifier
R-HSA-2262738
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Beta-galactosidase, BGAL_HUMAN, p.Trp273Leu GLB1
Locations in the PathwayBrowser
Expand all
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 Gene (Homo sapiens):2720 GLB1
Monarch:2720 GLB1
NCBI Gene:2720 GLB1
OMIM:611458 GLB1
UCSC:P16278 GLB1
Reference Transcript
Other Identifiers
0000610148
00052+3.2.1.23
00511+3.2.1.23
00531+3.2.1.23
00600+3.2.1.23
00604+3.2.1.23
11715657_a_at
11729661_a_at
11729662_x_at
201576_s_at
2668206
2668207
2668208
2668209
2668210
2668223
2668224
2668226
2668228
2668231
2668245
2668250
2668251
2668253
2668255
2668256
2668257
2668259
2668262
2668281
2668282
2668283
2720
37742_at
40610
69503
8086028
8382
A_23_P61529
A_23_P61531
C9J4G9
C9J539
C9JF15
C9JWX1
CAB008382
CCDS43061
CCDS43062
E7EQ29
ENSG00000170266
ENSP00000306920
ENSP00000382333
ENST00000307363
ENST00000307363.9
ENST00000399402
ENST00000399402.7
EntrezGene:2720
EntrezGene:GLB1
F8WEN1
F8WF40
g10834965_3p_a_at
GE57941
GLB1
GLB1-201
GLB1-203
GO:0002376
GO:0003674
GO:0004553
GO:0004565
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0005794
GO:0005975
GO:0006027
GO:0006629
GO:0006687
GO:0006790
GO:0006810
GO:0008150
GO:0008152
GO:0009056
GO:0016192
GO:0016787
GO:0016798
GO:0016936
GO:0019388
GO:0031410
GO:0035578
GO:0042340
GO:0042803
GO:0043202
GO:0043226
GO:0043231
GO:0043312
GO:0044262
GO:0044281
GO:0048471
GO:0051413
GO:0070062
GO:1904016
GO:1904813
HGNC:4298
HPA040610
HPA069503
ILMN_1735155
ILMN_1790862
ILMN_2289111
ILMN_2397721
IPR001944
IPR008979
IPR017853
IPR019801
IPR025300
IPR026283
IPR031330
M34423_at
MIM:230500
MIM:230600
MIM:230650
MIM:253010
MIM:611458
NM_000404
NM_001079811
NM_001317040
NP_000395
NP_001073279
NP_001303969
PF01301
PF13364
PH_hs_0026028
PR00742
TC03001273.hg
UPI0000E5A543
UPI00015E0895
Participant Of
hasMember
Other forms of this molecule
GLB1 [lysosomal lumen]
GLB1 [ficolin-1-rich granule lumen]
GLB1 [extracellular region]
GLB1 [azurophil granule lumen]
GLB1 R482C [lysosomal lumen]
GLB1 Y83C [lysosomal lumen]
GLB1 W509C [lysosomal lumen]
Modified Residues
Name
L-tryptophan 273 replaced with L-leucine
Coordinate
273
PsiMod
L-tryptophan removal [MOD:01648]
A protein modification that effectively removes or replaces an L-tryptophan.
L-leucine residue [MOD:00020]
A protein modification that effectively converts a source amino acid residue to an L-leucine.
Disease
Name Identifier Synonyms
mucopolysaccharidosis 12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Cross References
RefSeq
OpenTargets
ZINC - Substances
GeneCards
ZINC target
PRO
ZINC - Predictions - Purchasable
Orphanet
HMDB Protein
PDB
Interactors (4)