Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
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
Curator Guide
Release Documentation
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
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Funding
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
Curator Guide
Release Documentation
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
Advanced Data Search
Site Search
Community
Contribute Pathway Knowledge
Icon Library
Outreach
Events
Publications
Partners
Contributors
Resources Guide
Download
Search ...
Go!
CHST6 L276P [Golgi membrane]
Stable Identifier
R-HSA-3656477
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Carbohydrate sulfotransferase 6, CHST6_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 CHST6 causes MCDC1 (Homo sapiens)
Defective CHST6 does not transfer SO4(2-) to GlcNAc residues on keratan-PG (Homo sapiens)
CHST6 mutants [Golgi membrane] (Homo sapiens)
CHST6 L276P [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9GZX3 CHST6
Gene Names
CHST6
Chain
chain:1-395
Reference Genes
BioGPS Gene:4166 CHST6
COSMIC (genes):CHST6 CHST6
CTD Gene:4166 CHST6
dbSNP Gene:4166 CHST6
ENSEMBL:ENSG00000183196 CHST6
HGNC:6938 CHST6
KEGG:hsa:4166 CHST6
Monarch:4166 CHST6
NCBI Gene:4166 CHST6
OMIM:605294 CHST6
UCSC:Q9GZX3 CHST6
Reference Transcript
RefSeq:NM_021615.4 CHST6
RefSeq:XM_011523085.2 CHST6
RefSeq:XM_005255955.4 CHST6
Other Identifiers
11735477_a_at
11735478_a_at
16828468
16828471
223786_PM_at
223786_at
3699610
3699617
3699618
3699619
3699620
3699621
3699622
3699623
3699624
3699625
3699626
3699627
3699629
4166
71951_at
8002882
83762_at
A_33_P3366903
GE80585
GO:0000139
GO:0001517
GO:0003824
GO:0005794
GO:0005802
GO:0005975
GO:0006044
GO:0006790
GO:0008146
GO:0016020
GO:0016740
GO:0018146
GO:0043226
GO:0045130
GO:1901135
HMNXSV003024784
HMNXSV003049014
ILMN_1670881
PH_hs_0031900
TC16001281.hg
TC16001963.hg
g12060803_3p_at
Participates
as a member of
CHST6 mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
CHST6 [Golgi membrane]
CHST6 C102G [Golgi membrane]
CHST6 L200R [Golgi membrane]
CHST6 D203E [Golgi membrane]
CHST6 E274K [Golgi membrane]
CHST6 Y110C [Golgi membrane]
CHST6 K174R [Golgi membrane]
CHST6 R211W [Golgi membrane]
Modified Residues
Name
L-leucine 276 replaced with L-proline
Coordinate
276
PsiMod
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name
Identifier
Synonyms
macular corneal dystrophy
DOID:2565
Macular Corneal Dystrophy, Macular corneal dystrophy (disorder)
Cross References
OpenTargets
ENSG00000183196
ENSEMBL
ENSP00000496806
,
ENSP00000328983
,
ENST00000390664
,
ENST00000332272
,
ENSP00000497635
,
ENST00000649824
,
ENST00000649341
,
ENSP00000375079
IntEnz
2.8.2.21
HPA
ENSG00000183196-CHST6
PRO
Q9GZX3
Pharos - Targets
Q9GZX3
Orphanet
CHST6
GlyGen
Q9GZX3
HMDB Protein
HMDBP02328
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q8NCG5 CHST4
1
CHST4 [Golgi membrane]
(R-HSA-6786006)
0.527
2
UniProt:P27824 CANX
2
CANX [endoplasmic reticulum lumen]
(R-HSA-195906)
CANX [lumenal side of endoplasmic reticulum membrane]
(R-HSA-983091)
0.527
2
UniProt:Q9UBS3 DNAJB9
1
DNAJB9 [endoplasmic reticulum membrane]
(R-HSA-381010)
0.527
2
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text