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!
CHSY1 G19_L28del [Golgi membrane]
Stable Identifier
R-HSA-3636823
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Chondroitin sulfate synthase 1, CHSS1_HUMAN
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective CHSY1 causes TPBS (Homo sapiens)
Defective CHSY1 does not transfer GalNAc to chondroitin (Homo sapiens)
CHSY1 mutants [Golgi membrane] (Homo sapiens)
CHSY1 G19_L28del [Golgi membrane] (Homo sapiens)
Defective CHSY1 does not transfer GlcA to chondroitin (Homo sapiens)
CHSY1 mutants [Golgi membrane] (Homo sapiens)
CHSY1 G19_L28del [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q86X52 CHSY1
Gene Names
CHSY1, CHSY, CSS1, KIAA0990, UNQ756/PRO1487
Chain
chain:1-802
Reference Genes
BioGPS Gene:22856 CHSY1
COSMIC (genes):CHSY1 CHSY1
CTD Gene:22856 CHSY1
dbSNP Gene:22856 CHSY1
ENSEMBL:ENSG00000131873 CHSY1
ENSEMBL_homo_sapiens_GENE:ENSG00000131873.7 CHSY1
HGNC:17198 CHSY1
KEGG Gene (Homo sapiens):22856 CHSY1
Monarch:22856 CHSY1
NCBI Gene:22856 CHSY1
OMIM:608183 CHSY1
UCSC:Q86X52 CHSY1
Reference Transcript
RefSeq:NM_014918.4 CHSY1
Other Identifiers
11739359_a_at
11746565_a_at
11757950_s_at
203044_PM_at
203044_at
22856
3642086
3642087
3642088
3642089
3642090
3642108
3642109
3642120
3642121
3642122
3642123
3642124
3642125
3642126
3642134
3642136
41447_at
7991581
A_23_P37484
GE53642
GO:0000139
GO:0002063
GO:0003824
GO:0005576
GO:0005794
GO:0006790
GO:0008376
GO:0009954
GO:0016020
GO:0016740
GO:0016757
GO:0016758
GO:0023052
GO:0030154
GO:0030206
GO:0030279
GO:0031667
GO:0032580
GO:0043226
GO:0045880
GO:0046872
GO:0047238
GO:0048856
GO:0050510
GO:0051216
GO:0051923
GO:0060349
GO:1901135
HMNXSV003035135
ILMN_1791576
PH_hs_0029086
TC15002005.hg
g7662433_3p_at
Participates
as a member of
CHSY1 mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
CHSY1 P539R [Golgi membrane]
CHSY1 E33Sfs*2 [Golgi membrane]
CHSY1 Q69* [Golgi membrane]
CHSY1 [Golgi membrane]
Modified Residues
Name
Deletion of residues 19 to 28
Disease
Name
Identifier
Synonyms
brachydactyly
DOID:0050581
Cross References
RefSeq
NP_055733.2
OpenTargets
ENSG00000131873
IntEnz
2.4.1.175
HPA
ENSG00000131873-CHSY1
GeneCards
Q86X52
Ensembl
ENSG00000131873
,
ENST00000254190
,
ENSP00000254190
PRO
Q86X52
Pharos - Targets
Q86X52
Orphanet
22395
HMDB Protein
HMDBP01105
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text