Reactome | CHSY1 E33Sfs*2 [Golgi membrane]

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

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

HGNC:17198 CHSY1

KEGG:hsa:22856 CHSY1

Monarch:22856 CHSY1

NCBI Gene:22856 CHSY1

OMIM:608183 CHSY1

UCSC:Q86X52 CHSY1

Reference Transcript

RefSeq:NM_014918.4 CHSY1

Other Identifiers

11739359_a_at

11746565_a_at

11757950_s_at

16813871

203044_PM_at

203044_at

22856

3642086

3642087

3642088

3642089

3642090

3642106

3642107

3642108

3642109

3642111

3642120

3642121

3642122

3642123

3642124

3642125

3642126

3642128

3642129

3642134

3642136

41447_at

7991581

A_23_P37484

GE53642

GO:0000139

GO:0002063

GO:0005576

GO:0005794

GO:0006790

GO:0008376

GO:0009954

GO:0016020

GO:0016740

GO:0016757

GO:0030279

GO:0031667

GO:0032580

GO:0045880

GO:0046872

GO:0047238

GO:0048856

GO:0050510

GO:0050650

GO:0051216

GO:0051923

GO:0060349

GO:1901135

HMNXSV003035135

ILMN_1791576

PH_hs_0029086

TC15002005.hg

g7662433_3p_at

Participates

as a member of

CHSY1 mutants [Golgi membrane] (Homo sapiens)

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

NP_055733.2

ENSEMBL

ENSP00000254190, ENST00000254190, ENSG00000131873

OpenTargets

ENSG00000131873

Mondo

0021004

PRO

Q86X52

GlyGen

Q86X52

IntEnz

2.4.1.175

GeneCards

CHSY1

HPA

ENSG00000131873-CHSY1

Pharos - Targets

Q86X52

Orphanet

CHSY1

ClinVar

VCV000030715

HMDB Protein

HMDBP01105

Interactors (3)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P07585 DCN	20	DCN(31-?) [extracellular region] (R-HSA-2534171) DCN(?-359) [extracellular region] (R-HSA-2534176) DCN [extracellular region] (R-HSA-1430775) CSE-DCN [lysosomal lumen] (R-HSA-2065120) C6S-DCN [lysosomal lumen] (R-HSA-2065118) C4S-DCN [lysosomal lumen] (R-HSA-2065094) D2,4(S)2-DCN [lysosomal lumen] (R-HSA-2065249) DCN [Golgi lumen] (R-HSA-2063995) XylS-DCN [Golgi lumen] (R-HSA-2064097) Gal-Xyl-DCN [Golgi lumen] (R-HSA-2064080) Gal-Gal-Xyl-DCN [Golgi lumen] (R-HSA-2064064) GlcA-Gal-Gal-Xyl-DCN [Golgi lumen] (R-HSA-2064161) GlcA-Gal-Gal-XylP-DCN [Golgi lumen] (R-HSA-9941359) chondroitin(1)-DCN [Golgi lumen] (R-HSA-2064248) chondroitin(2)-DCN [Golgi lumen] (R-HSA-2063993) chondroitin(3)-DCN [Golgi lumen] (R-HSA-2064025) C4S-DCN [Golgi lumen] (R-HSA-2064171) D4S-DCN [Golgi lumen] (R-HSA-2065089) dermatan-DCN [Golgi lumen] (R-HSA-5607522) D2,4(S)2-DCN [Golgi lumen] (R-HSA-2065119)	0.643	3
UniProt:Q03405 PLAUR	7	GPI-PLAUR [plasma membrane] (R-HSA-158946) GPI-PLAUR [specific granule membrane] (R-HSA-6806143) PLAUR [plasma membrane] (R-HSA-6806165) PLAUR(23-335) [endoplasmic reticulum membrane] (R-HSA-162866) PLAUR(306-335) [endoplasmic reticulum lumen] (R-HSA-162707) GPI-PLAUR [endoplasmic reticulum membrane] (R-HSA-162687) PLAUR [endoplasmic reticulum membrane] (R-HSA-162703)	0.527	2
UniProt:P40855 PEX19	1	PEX19 [cytosol] (R-HSA-3009036)	0.527	2

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