Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Release Calendar
Statistics
Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
Contact us
Content
Table of Contents
DOIs
Data Schema
Reactome Research Spotlight
ORCID Integration Project
COVID-19 Disease Pathways
Docs
Userguide
Pathway Browser
How do I search ?
Details Panel
Analysis Tools
Analysis Data
Analysis Gene Expression
Species Comparison
Tissue Distribution
Diseases
Cytomics
Review Status of Reactome Events
ReactomeFIViz
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
EHLD Specs & Guidelines
Icon Library Guidelines
Data Model
Computationally inferred events
FAQ
Linking to Us
Citing us
Tools
Pathway Browser
Analyse gene list
Analyse gene expression
Species Comparison
Tissue Distribution
Analysis Service
Content Service
ReactomeFIViz
Overlays
DisGeNET
Web
API
Advanced Data Search
Site Search
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Contributors
Papers Citing Us
Resources Guide
Collaboration
Download
Search ...
Go!
Schema
>
FailedReaction
>
Entries
Defective B3GALTL does not transfer glucose to O-fucosyl-proteins
Show undefined attributes
Go to Details
authored
[InstanceEdit:6785558] Jassal, Bijay, 2015-06-29
catalystActivity
[CatalystActivity:9632246] glycosyltransferase activity of B3GALTL G393E [endoplasmic reticulum membrane]
category
transition
compartment
[Compartment:12045] endoplasmic reticulum membrane
[Compartment:17957] endoplasmic reticulum lumen
created
[InstanceEdit:6785558] Jassal, Bijay, 2015-06-29
dbId
6785565
disease
[Disease:6785562] eye disease
[Disease:6785573] orofacial cleft
displayName
Defective B3GALTL does not transfer glucose to O-fucosyl-proteins
edited
[InstanceEdit:6785558] Jassal, Bijay, 2015-06-29
entityFunctionalStatus
[EntityFunctionalStatus:6785570] loss_of_function of B3GALTL G393E [endoplasmic reticulum membrane]
eventOf
[Pathway:R-HSA-5083635] Defective B3GALTL causes PpS - Homo sapiens
input
[CandidateSet:R-HSA-5173164] O-fuc-proteins [endoplasmic reticulum lumen]
[SimpleEntity:R-ALL-173594] UDP-D-glucose(2-) [endoplasmic reticulum lumen]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:6785563] Novel B3GALTL mutation in Peters-plus Syndrome
[LiteratureReference:8849758] Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism
[LiteratureReference:8849773] Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
[LiteratureReference:6785571] Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective B3GALTL does not transfer glucose to O-fucosyl-proteins
normalReaction
[Reaction:R-HSA-5173005] B3GALTL transfers glucose to O-fucosyl-proteins
releaseDate
2016-03-23
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:8849944] Hansen, Lars, Joshi, Hiren, 2015-12-18
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-6785565
summation
[Summation:5187393] Human beta-1,3-glucosyltransferase-like protein (B3GALTL, HG...
Referrals
(hasEvent)
[Pathway:R-HSA-5083635] Defective B3GALTL causes PpS
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text