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B3GALTL G393E [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-9632239
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Synonyms
Beta-1,3-glucosyltransferase, B3GLT_HUMAN
Icon
Locations in the PathwayBrowser for interactor UniProt:P27918 CFP
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with O-glycosylation of proteins (Homo sapiens)
Defective B3GALTL causes PpS (Homo sapiens)
Defective B3GALTL does not transfer glucose to O-fucosyl-proteins (Homo sapiens)
B3GALTL G393E [endoplasmic reticulum membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q6Y288 B3GLCT
Gene Names
B3GLCT, B3GALTL, B3GTL
Chain
chain:1-498
Reference Genes
BioGPS Gene:145173 B3GLCT
COSMIC (genes):B3GLCT B3GLCT
CTD Gene:145173 B3GLCT
dbSNP Gene:145173 B3GLCT
ENSEMBL:ENSG00000187676 B3GLCT
HGNC:20207 B3GLCT
KEGG:hsa:145173 B3GLCT
Monarch:145173 B3GLCT
NCBI Gene:145173 B3GLCT
OMIM:610308 B3GLCT
UCSC:Q6Y288 B3GLCT
Reference Transcript
RefSeq:NM_194318.3 B3GLCT
Other Identifiers
11728907_at
11728908_at
11728909_s_at
11758426_s_at
145173
16773700
227083_PM_at
227083_at
227100_PM_at
227100_at
3484297
3484298
3484303
3484304
3484306
3484309
3484310
3484311
3484312
3484313
3484314
3484315
3484317
3484318
3484319
3484321
3484325
3484326
3484328
3484332
3484333
3484334
3484335
3484336
3484337
3484338
3484339
3484340
3484341
44278_at
47927_at
53811_at
63377_at
7968370
A_14_P114108
A_32_P85835
GE608093
GO:0001501
GO:0003824
GO:0005783
GO:0005789
GO:0005975
GO:0006004
GO:0006486
GO:0007420
GO:0008375
GO:0009306
GO:0010467
GO:0016020
GO:0016740
GO:0016757
GO:0036066
GO:0043010
GO:0043226
GO:0044782
GO:0048856
GO:0060021
GO:0060173
GO:0060271
GO:1904888
HMNXSV003028506
Hs.13205.0.A1_3p_at
Hs.13205.0.A2_3p_at
ILMN_1764813
PH_hs_0031005
TC13000105.hg
Other forms of this molecule
B3GALTL [endoplasmic reticulum membrane]
Modified Residues
Name
glycine 393 replaced with L-glutamic acid
Coordinate
393
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-glutamic acid residue [MOD:00015]
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
Cross References
ENSEMBL
ENST00000343307
,
ENSP00000343002
,
ENSG00000187676
OpenTargets
ENSG00000187676
GeneCards
B3GLCT
HPA
ENSG00000187676-B3GLCT
PRO
Q6Y288
Pharos - Targets
Q6Y288
GlyGen
Q6Y288
Orphanet
B3GLCT
Interactors (5)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P35442 THBS2
4
THBS2 [endoplasmic reticulum lumen]
(R-HSA-5173187)
glc-fuc-THBS2 [endoplasmic reticulum lumen]
(R-HSA-5173234)
O-fuc-THBS2 [endoplasmic reticulum lumen]
(R-HSA-5173111)
THBS2 [extracellular region]
(R-HSA-66520)
0.527
2
UniProt:P10696 ALPG
2
cleaved GPI-ALPPL2 [extracellular region]
(R-HSA-8943384)
GPI-ALPPL2 [plasma membrane]
(R-HSA-8940813)
0.527
3
UniProt:Q8TE60 ADAMTS18
4
ADAMTS18 [extracellular region]
(R-HSA-3791290)
ADAMTS18 [endoplasmic reticulum lumen]
(R-HSA-5173116)
glc-fuc-ADAMTS18 [endoplasmic reticulum lumen]
(R-HSA-5173291)
O-fuc-ADAMTS18 [endoplasmic reticulum lumen]
(R-HSA-5173143)
0.527
2
UniProt:P27918 CFP
6
CFP [extracellular region]
(R-HSA-173751)
CFP [tertiary granule lumen]
(R-HSA-6800993)
CFP [specific granule lumen]
(R-HSA-6799522)
O-fuc-CFP [endoplasmic reticulum lumen]
(R-HSA-5173204)
glc-fuc-CFP [endoplasmic reticulum lumen]
(R-HSA-5173137)
CFP [endoplasmic reticulum lumen]
(R-HSA-5173244)
0.527
2
UniProt:P13671 C6
1
C6 [extracellular region]
(R-HSA-173706)
0.527
3
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