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!
CHST14 C289S [Golgi membrane]
Stable Identifier
R-HSA-3636925
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Carbohydrate sulfotransferase 14, CHSTE_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 CHST14 causes EDS, musculocontractural type (Homo sapiens)
Defective CHST14 does not transfer SO4(2-) to GalNAc in dermatan or DS (Homo sapiens)
CHST14 mutants [Golgi membrane] (Homo sapiens)
CHST14 C289S [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q8NCH0 CHST14
Gene Names
CHST14, D4ST1, UNQ1925/PRO4400
Chain
chain:1-376
Reference Genes
BioGPS Gene:113189 CHST14
COSMIC (genes):CHST14 CHST14
CTD Gene:113189 CHST14
dbSNP Gene:113189 CHST14
ENSEMBL:ENSG00000169105 CHST14
ENSEMBL_homo_sapiens_GENE:ENSG00000169105.8 CHST14
HGNC:24464 CHST14
KEGG Gene (Homo sapiens):113189 CHST14
Monarch:113189 CHST14
NCBI Gene:113189 CHST14
OMIM:608429 CHST14
UCSC:Q8NCH0 CHST14
Reference Transcript
RefSeq:NM_130468.3 CHST14
Other Identifiers
113189
11719426_at
16799577
226314_PM_at
226314_at
3589973
3589974
3589975
3589976
43923_at
7982745
A_14_P121209
A_23_P106532
A_24_P210637
GE56990
GO:0000139
GO:0001537
GO:0003824
GO:0005515
GO:0005576
GO:0005615
GO:0005794
GO:0005975
GO:0006790
GO:0008146
GO:0016020
GO:0016051
GO:0016740
GO:0030208
GO:0042301
GO:0043226
GO:0050655
GO:0070062
GO:1901135
HMNXSV003052293
Hs.24947.0.A1_3p_at
ILMN_1743340
PH_hs_0025854
TC15000286.hg
Participates
as a member of
CHST14 mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
CHST14 K69* [Golgi membrane]
CHST14 R135G [Golgi membrane]
CHST14 V49* [Golgi membrane]
CHST14 R213P [Golgi membrane]
CHST14 Y293C [Golgi membrane]
CHST14 P281L [Golgi membrane]
CHST14 L137Q [Golgi membrane]
CHST14 [Golgi membrane]
Modified Residues
Name
L-cysteine 289 replaced with L-serine
Coordinate
289
PsiMod
L-cysteine removal [MOD:01635]
A protein modification that effectively removes or replaces an L-cysteine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name
Identifier
Synonyms
Ehlers-Danlos syndrome
DOID:13359
Cutis hyperelastica, elastic skin
Cross References
RefSeq
NP_569735.1
OpenTargets
ENSG00000169105
IntEnz
2.8.2.35
HPA
ENSG00000169105-CHST14
GeneCards
Q8NCH0
Ensembl
ENSP00000307297
,
ENST00000306243
,
ENSG00000169105
PRO
Q8NCH0
Pharos - Targets
Q8NCH0
Orphanet
19027
HMDB Protein
HMDBP02568
Interactors (3)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P27824 CANX
2
CANX [lumenal side of endoplasmic reticulum membrane]
(R-HSA-983091)
CANX [endoplasmic reticulum lumen]
(R-HSA-195906)
0.643
3
UniProt:Q8TBA6 GOLGA5
2
GOLGA5 [transport vesicle]
(R-HSA-8847517)
GOLGA5 [Golgi membrane]
(R-HSA-8847514)
0.527
2
UniProt:Q6S8J3 POTEE
1
POTEE [cytosol]
(R-HSA-9715126)
0.527
2
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text