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GLB1 Y83C [lysosomal lumen]
Stable Identifier
R-HSA-2262735
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
Beta-galactosidase, BGAL_HUMAN, p.Tyr83Cys GLB1
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of carbohydrate metabolism (Homo sapiens)
Mucopolysaccharidoses (Homo sapiens)
MPS IV - Morquio syndrome B (Homo sapiens)
Defective GLB1 does not hydrolyse a glycosaminoglycan (Homo sapiens)
GLB1 mutants [lysosomal lumen] (Homo sapiens)
GLB1 Y83C [lysosomal lumen] (Homo sapiens)
Defective GLB1 does not hydrolyse linker chain(2) (Homo sapiens)
GLB1 mutants [lysosomal lumen] (Homo sapiens)
GLB1 Y83C [lysosomal lumen] (Homo sapiens)
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
ENSEMBL_homo_sapiens_GENE:ENSG00000170266.16 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
RefSeq:NM_001317040.1 GLB1
RefSeq:NM_000404.3 GLB1
RefSeq:NM_001135602.2 GLB1
RefSeq:NM_001079811.2 GLB1
Other Identifiers
11715657_a_at
11729661_a_at
11729662_x_at
201576_PM_s_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
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:0008152
GO:0016787
GO:0016798
GO:0016936
GO:0019388
GO:0030163
GO:0030200
GO:0031410
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
GLB1 mutants [lysosomal lumen] (Homo sapiens)
Other forms of this molecule
GLB1 W509C [lysosomal lumen]
GLB1 R482C [lysosomal lumen]
GLB1 W273L [lysosomal lumen]
GLB1 [ficolin-1-rich granule lumen]
GLB1 [lysosomal lumen]
GLB1 [azurophil granule lumen]
GLB1 [extracellular region]
Modified Residues
Name
L-tyrosine 83 replaced with L-cysteine
Coordinate
83
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
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
RefSeq
NP_001129074.1
,
NP_001303969.1
,
NP_000395.2
,
NP_001073279.1
OpenTargets
ENSG00000170266
ZINC - Substances
BGAL_HUMAN
ZINC target
P16278
PRO
P16278
PDB
3THC
,
3WF0
,
3WF3
,
3WF1
,
3THD
,
3WF4
,
3WF2
,
3WEZ
IntEnz
3.2.1.23
HPA
ENSG00000170266-GLB1
GeneCards
P16278
Ensembl
ENST00000307363
,
ENSP00000306920
,
ENSG00000170266
,
ENSP00000382333
,
ENST00000399402
Pharos - Targets
P16278
ZINC - Predictions - Purchasable
BGAL_HUMAN
Orphanet
16136
HMDB Protein
HMDBP00843
Interactors (5)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q3KNW5 SLC10A6
1
SLC10A6 [plasma membrane]
(R-HSA-433091)
0.556
3
UniProt:P30825 SLC7A1
1
SLC7A1 [plasma membrane]
(R-HSA-375771)
0.556
3
UniProt:Q9BRI3 SLC30A2
2
SLC30A2 [endosome membrane]
(R-HSA-435363)
SLC30A2 [synaptic vesicle membrane]
(R-HSA-4084714)
0.556
3
UniProt:P61586 RHOA
6
RHOA [ficolin-1-rich granule membrane]
(R-HSA-6804971)
RHOA [secretory granule membrane]
(R-HSA-6804980)
RHOA [endoplasmic reticulum membrane]
(R-HSA-5672082)
RHOA [cytosol]
(R-HSA-194866)
RHOA [cell junction]
(R-HSA-2134503)
RHOA [plasma membrane]
(R-HSA-194510)
0.527
2
UniProt:P08670 VIM
11
VIM(2-85) [cytosol]
(R-HSA-350264)
VIM(86-466) [cytosol]
(R-HSA-350294)
VIM(430-466) [cytosol]
(R-HSA-350316)
VIM(2-429) [cytosol]
(R-HSA-350317)
VIM(260-466) [cytosol]
(R-HSA-350314)
VIM(2-259) [cytosol]
(R-HSA-350323)
VIM [cytosol]
(R-HSA-201600)
Vimentin [late endosome lumen]
(R-HSA-9660019)
Vimentin [microtubule organizing center]
(R-HSA-9657898)
Vimentin [cytosol]
(R-HSA-9646687)
Vimentin [lysosomal lumen]
(R-HSA-9659977)
0.508
2
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