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CHST6 L276P [Golgi membrane]
Stable Identifier
R-HSA-3656477
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Carbohydrate sulfotransferase 6, CHST6_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (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
ENSEMBL_homo_sapiens_GENE:ENSG00000183196 CHST6
HGNC:6938 CHST6
KEGG Gene (Homo sapiens):4166 CHST6
Monarch:4166 CHST6
NCBI Gene:4166 CHST6
OMIM:605294 CHST6
UCSC:Q9GZX3 CHST6
Reference Transcript
RefSeq:XM_011523085.2 CHST6
RefSeq:XM_005255955.4 CHST6
RefSeq:NM_021615.4 CHST6
Other Identifiers
11735477_a_at
11735478_a_at
16828471
223786_at
3699610
3699617
3699618
3699619
3699620
3699621
3699622
3699623
3699624
3699625
3699626
3699627
3699629
4166
71951_at
8002882
83762_at
A_33_P3366903
AAG26325
AAG26327
AAG48244
AAH74834
AAH74883
AF219990
AF219991
AF280086
BC074834
BC074883
CCDS10918
CH471114
CHST6
CHST6-201
CHST6-202
EAW95640
EAW95641
ENSG00000183196
ENSP00000328983
ENSP00000375079
ENST00000332272
ENST00000390664
EntrezGene:4166
g12060803_3p_at
GE80585
GO:0000139
GO:0001517
GO:0003674
GO:0005575
GO:0005622
GO:0005623
GO:0005737
GO:0005794
GO:0005802
GO:0005975
GO:0006044
GO:0006790
GO:0008146
GO:0008150
GO:0009058
GO:0016020
GO:0016021
GO:0016740
GO:0018146
GO:0043226
GO:0044281
HGNC:6938
ILMN_1670881
IPR000863
IPR016469
IPR027417
MIM:217800
MIM:605294
NM_021615
NP_067628
PF00685
PH_hs_0031900
TC16001281.hg
uc002fef.4
uc002feh.2
UPI00000467C8
XM_005255955
XP_005256012
Participant Of
hasMember
CHST6 mutants [Golgi membrane]
Other forms of this molecule
CHST6 R211W [Golgi membrane]
CHST6 K174R [Golgi membrane]
CHST6 Y110C [Golgi membrane]
CHST6 E274K [Golgi membrane]
CHST6 D203E [Golgi membrane]
CHST6 L200R [Golgi membrane]
CHST6 C102G [Golgi membrane]
CHST6 [Golgi membrane]
Modified Residues
Name
L-leucine 276 replaced with L-proline
Coordinate
276
PsiMod
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
L-leucine removal [MOD:01641]
A protein modification that effectively removes or replaces an L-leucine.
Disease
Name
Identifier
Synonyms
macular corneal dystrophy
2565
Macular Corneal Dystrophy, Macular corneal dystrophy (disorder)
Cross References
RefSeq
NP_067628.1
,
XP_005256012.1
,
XP_011521387.1
OpenTargets
ENSG00000183196
GeneCards
Q9GZX3
PRO
Q9GZX3
Orphanet
15454
HMDB Protein
HMDBP02328
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