CHSY1 E33Sfs*2 [Golgi membrane]

Stable Identifier
R-HSA-3636864
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Golgi membrane
Synonyms
Chondroitin sulfate synthase 1, CHSS1_HUMAN
Icon
CHSY1 E33Sfs*2 [Golgi membrane] icon
CHSY1 E33Sfs*2 [Golgi membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
21129727 Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling

Ling, L, Lee, H, Al-Hadidy, A, Ababneh, OH, Hamamy, H, O'Connor, B, Merriman, B, Tian, J, Shboul, M, Masri, A, Nelson, SF, Reversade, B, Cool, S

Am J Hum Genet 2010
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
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
Other forms of this molecule
CHSY1 P539R [Golgi membrane]
CHSY1 Q69* [Golgi membrane]
CHSY1 G19_L28del [Golgi membrane]
CHSY1 [Golgi membrane]
Modified Residues
Name
Replacement of residues 33 to 33 by S
Disease
Name Identifier Synonyms
brachydactyly DOID:0050581
Cross References
RefSeq
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
ClinVar
HMDB Protein
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