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chondroitin sulfate synthase 1

Summary

Gene Symbol

CHSY1

Aliases

CSS1
KIAA0990

Organism

Homo sapiens (human)

External Links

NCBI Gene

22856

GGDB ID

gg163

HGNC

17198

mRNA

NM_014918

map

15q26.3

Protein

NP_055733

OMIM

608183

KEGG Gene ID

hsa:22856

PubChem

22856

Alliance of Genome Resources

HGNC:17198

Annotation

Keyword

Disease variant
Glycoprotein
Golgi apparatus
Metal-binding
Reference proteome
Secreted
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q86X52	Chondroitin glucuronyltransferase 1 Chondroitin synthase 1 Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1 N-acetylgalactosaminyltransferase 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
sulfation	IEA
chondroitin sulfate biosynthetic process	IBA IDA TAS	11514575
chondrocyte development	IEA
positive regulation of smoothened signaling pathway	IEA
response to nutrient levels	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

sulfation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

sulfation

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

chondroitin sulfate biosynthetic process

cellular developmental process [inference]

cell development [inference]

chondrocyte development

multicellular organismal process [inference]

pattern specification process [inference]

regionalization [inference]

proximal/distal pattern formation

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

bone morphogenesis

anatomical structure development [inference]

cell development [inference]

chondrocyte development

cellular developmental process [inference]

cell development [inference]

chondrocyte development

response to stimulus [inference]

response to external stimulus [inference]

response to extracellular stimulus [inference]

response to nutrient levels

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway [inference]

positive regulation of smoothened signaling pathway

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

negative regulation of biological process [inference]

negative regulation of multicellular organismal process [inference]

negative regulation of ossification

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway [inference]

positive regulation of smoothened signaling pathway

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of smoothened signaling pathway [inference]

positive regulation of smoothened signaling pathway

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of smoothened signaling pathway

regulation of multicellular organismal process [inference]

regulation of ossification [inference]

negative regulation of ossification

negative regulation of multicellular organismal process [inference]

negative regulation of ossification

Displaying **all 4** entries
GO Term	Evidence Code	PMID
extracellular region	IDA	21129727
membrane	HDA	19946888
Golgi cisterna membrane	IEA
Golgi membrane	TAS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

extracellular region

membrane

organelle membrane [inference]

Golgi cisterna membrane

bounding membrane of organelle [inference]

Golgi membrane

Displaying **all 3** entries
GO Term	Evidence Code	PMID
glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA IDA TAS	11514575
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IDA TAS	11514575
metal ion binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity

glucuronosyltransferase activity [inference]

N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity

hexosyltransferase activity [inference]

acetylgalactosaminyltransferase activity [inference]

glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity

glucuronosyltransferase activity [inference]

N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

GlycoGene Database (GGDB)

GGDB ID

gg163

Gene Symbol

CHSY1

Reactions

Displaying **all 4** entries
Donor	Acceptor	Product	Reference
UDP-GlcUA	G70907ST	G33235EO	12907687
UDP-GalNAc	G42573SZ		11514575
UDP-GalNAc	G71283UV		11514575
UDP-GalNAc	G76533UX	G70907ST	12907687

Displaying **all 10** entries
Donor	Acceptor	Reference
UDP-GalNAc	G78706WI	11514575
UDP-GlcUA	G60511GB	12907687
UDP-GalNAc	G86399RV	12907687
UDP-GlcUA	G87877ES	12907687
UDP-GlcUA	G76533UX	12907687
UDP-GalNAc	G70907ST	12907687
UDP-GlcUA	G86399RV	12907687
UDP-GalNAc	G14371GV	11514575 12907687
UDP-Gal	G73480MV	11514575
UDP-GalNAc	G60511GB	12907687

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Rattus norvegicus	XP_218759	XM_218759
Drosophila melanogaster	NP_996440	NM_206717
Caenorhabditis elegans	BAC76780	AB088397
Mus musculus	XP_194358	XM_194358

KEGG BRITE Database

Orthology

K13499

Name

chondroitin sulfate synthase [EC:2.4.1.175 2.4.1.226]

References

Reactions

Displaying **all 4** entries
KEGG Reaction	Enzyme	Acceptor	Product
R05931	2.4.1.226	G40609EP	G09318DC
R05934	2.4.1.175	G91368UC	G66923HV
R05932	2.4.1.175	G09318DC	G95036CM
R05933	2.4.1.226	G95036CM	G91368UC

Rhea

RHEA:55000

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.175

PMID

RHEA:54996

UDP-α-D-glucuronate

H⁺ + UDP

Enzyme

2.4.1.226

PMID

RHEA:23428

UDP-α-D-glucuronate

H⁺ + UDP

Enzyme

2.4.1.226

PMID

RHEA:20800

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.175

PMID

Disease

Disease Ontology

Displaying entries **81 - 90** of **175** in total

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DO ID	Disease Name	Source
DOID:0110533	autosomal recessive nonsyndromic deafness 88	DisGeNET
DOID:0110534	autosomal recessive nonsyndromic deafness 89	DisGeNET
DOID:0110535	autosomal recessive nonsyndromic deafness 9	DisGeNET
DOID:0110536	autosomal recessive nonsyndromic deafness 91	DisGeNET
DOID:0110537	autosomal recessive nonsyndromic deafness 93	DisGeNET
DOID:0110538	autosomal recessive nonsyndromic deafness 96	DisGeNET
DOID:0110539	autosomal recessive nonsyndromic deafness 97	DisGeNET
DOID:0110540	autosomal recessive nonsyndromic deafness 98	DisGeNET
DOID:0110541	autosomal dominant nonsyndromic deafness 1	DisGeNET
DOID:0110542	autosomal dominant nonsyndromic deafness 10	DisGeNET

The Human Phenotype Ontology

Displaying entries **21 - 30** of 61 in total

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HPO ID	HPO Term
HP:0001159	Syndactyly
HP:0001234	Hitchhiker thumb
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0001328	Specific learning disability
HP:0001357	Plagiocephaly
HP:0001510	Growth delay
HP:0001566	Widely-spaced maxillary central incisors
HP:0001773	Short foot
HP:0001999	Abnormal facial shape

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:605282	temtamy preaxial brachydactyly syndrome
ORPHA:363417	temtamy preaxial brachydactyly syndrome

PubChem Disease

MedGen Diseases

Temtamy preaxial brachydactyly syndrome

OMIM Phenotypes

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME; TPBS

KEGG Diseases

Temtamy preaxial brachydactyly syndrome

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **11 - 20** of 72 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Oreochromis niloticus	100696585		ORENI00887
Sparus aurata	115580082		SPAAU24957
Xenopus laevis	108711484	Xenbase:XB-GENE-6487752
Xenopus laevis	108712816	Xenbase:XB-GENE-17339959
Xenopus tropicalis	100036707	Xenbase:XB-GENE-961883
Chrysemys picta bellii	101945190		CHRPI05802
Crocodylus porosus	109309167		CROPO16190
Ornithorhynchus anatinus	103170669		ORNAN22913
Sarcophilus harrisii	100923374		SARHA17322
Callithrix jacchus	100405485		CALJA38269

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements