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CHST3 Y201* [Golgi membrane]
Stable Identifier
R-HSA-3636860
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Carbohydrate sulfotransferase 3, CHST3_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 CHST3 causes SEDCJD (Homo sapiens)
Defective CHST3 does not transfer SO4(2-) to chondroitin (Homo sapiens)
CHST3 mutants [Golgi membrane] (Homo sapiens)
CHST3 Y201* [Golgi membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q7LGC8 CHST3
Gene Names
CHST3
Chain
chain:1-479
Reference Genes
BioGPS Gene:9469 CHST3
COSMIC (genes):CHST3 CHST3
CTD Gene:9469 CHST3
dbSNP Gene:9469 CHST3
ENSEMBL:ENSG00000122863 CHST3
HGNC:1971 CHST3
KEGG:hsa:9469 CHST3
Monarch:9469 CHST3
NCBI Gene:9469 CHST3
OMIM:603799 CHST3
UCSC:Q7LGC8 CHST3
Reference Transcript
RefSeq:XM_006718075.3 CHST3
RefSeq:NM_004273.4 CHST3
RefSeq:XM_011540369.2 CHST3
Other Identifiers
11721191_at
11721192_at
11721193_at
16705934
208252_PM_s_at
208252_s_at
209834_PM_at
209834_at
32094_PM_at
32094_at
3251299
3251308
3251309
3251310
3251311
3251312
3251313
7928291
9469
A_14_P134605
GE53432
GO:0000139
GO:0001517
GO:0002376
GO:0003824
GO:0005794
GO:0005802
GO:0005975
GO:0006044
GO:0006790
GO:0008146
GO:0008459
GO:0016020
GO:0016740
GO:0030206
GO:0043029
GO:0043226
GO:0050698
GO:1901135
HMNXSV003020538
ILMN_1723481
PH_hs_0009584
TC10000445.hg
g4115403_3p_s_at
g4757985_3p_a_at
g4757985_3p_s_at
Participates
as a member of
CHST3 mutants [Golgi membrane] (Homo sapiens)
Other forms of this molecule
CHST3 L286P [Golgi membrane]
CHST3 L307P [Golgi membrane]
CHST3 R222W [Golgi membrane]
CHST3 R304Q [Golgi membrane]
CHST3 L259P [Golgi membrane]
CHST3 E372K [Golgi membrane]
CHST3 [Golgi membrane]
Modified Residues
Name
Nonsense mutation at L-tyrosine 201
Coordinate
201
PsiMod
L-tyrosine removal [MOD:01649]
A protein modification that effectively removes or replaces an L-tyrosine.
Disease
Name
Identifier
Synonyms
osteochondrodysplasia
DOID:2256
Unspecified anomaly of cartilage (disorder), chondrodystrophy, Congenital anomaly of cartilage (disorder), Osteochondrodysplasia syndrome (disorder), Cartilage Development disorder
Cross References
ENSEMBL
ENST00000373115
,
ENSP00000362207
OpenTargets
ENSG00000122863
HPA
ENSG00000122863-CHST3
PRO
Q7LGC8
Pharos - Targets
Q7LGC8
GlyGen
Q7LGC8
Orphanet
CHST3
HMDB Protein
HMDBP00287
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P01185 AVP
10
AVP(20-28) [extracellular region]
(R-HSA-388474)
AVP(20-28) [cytosol]
(R-HSA-879509)
AVP E47del [extracellular region]
(R-HSA-5621396)
AVP P7L [extracellular region]
(R-HSA-5621460)
AVP C67* [extracellular region]
(R-HSA-5621431)
AVP V67A [extracellular region]
(R-HSA-5621446)
AVP A1T [extracellular region]
(R-HSA-5621473)
AVP Y2H [extracellular region]
(R-HSA-5621449)
AVP G23R [extracellular region]
(R-HSA-5621464)
AVP(20-28) [clathrin-coated endocytic vesicle membrane]
(R-HSA-8869075)
0.527
2
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