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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 **6 - 8** of 8 in total

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GO Term	Evidence Code	PMID
positive regulation of smoothened signaling pathway	IEA
bone morphogenesis	IEA
chondroitin sulfate biosynthetic process	IBA IDA TAS	11514575

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
membrane	HDA	19946888
extracellular region	IDA	21129727
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
metal ion binding	IEA
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IDA TAS	11514575
glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA IDA TAS	11514575

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

chondroitin sulfate

Functional Category

G: Carbohydrate transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 5** entries
Gene Ontology
acetylgalactosaminyltransferase activity
chondroitin sulfate biosynthetic process
glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
hexosyltransferase activity
transferase activity

Displaying **all 2** entries
InterPro
Chondroitin N-acetylgalactosaminyltransferase
Nucleotide-diphospho-sugar transferases

GlycoGene Database (GGDB)

GGDB ID

gg163

Gene Symbol

CHSY1

Reactions

Displaying **all 2** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-GalNAc	G76533UX		G70907ST		12907687
UDP-GlcUA	G70907ST		G33235EO		12907687

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Donor	Acceptor	Reducing terminal(Acceptor)	Reference
UDP-Gal	G73480MV		11514575
UDP-GalNAc	G14371GV		11514575
UDP-GalNAc	G60511GB		12907687
UDP-GalNAc	G70907ST		12907687
UDP-GalNAc	G14371GV	o-methoxyphenyl	12907687

Orthologous Gene

Displaying **all 4** entries
Species	Protein	mRNA
Drosophila melanogaster	NP_996440	NM_206717
Rattus norvegicus	XP_218759	XM_218759
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
R05932	2.4.1.175	G09318DC	G95036CM
R05931	2.4.1.226	G40609EP	G09318DC
R05933	2.4.1.226	G95036CM	G91368UC
R05934	2.4.1.175	G91368UC	G66923HV

Rhea

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

RHEA:54996

UDP-α-D-glucuronate

H⁺ + UDP

Enzyme

2.4.1.226

PMID

RHEA:55000

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.175

PMID

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0050814	temtamy preaxial brachydactyly syndrome	Glyco-Disease Genes Database Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000160	Narrow mouth
HP:0000164	Abnormality of the dentition
HP:0000175	Cleft palate
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0000347	Micrognathia
HP:0000369	Low-set ears
HP:0000517	Abnormal lens morphology

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 **31 - 40** of 74 in total

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Species	Gene ID	Orthologous MAtrix
Capra hircus	102179324	CAPHI13382
Latimeria chalumnae	102366930	LATCH17613
Myotis lucifugus	102420754	MYOLU18434
Pelodiscus sinensis	102459255	PELSI13534
Astyanax mexicanus	103047541	ASTMX12403
Ornithorhynchus anatinus	103170669	ORNAN22913
Callorhinchus milii	103187742	CALMI03867
Rhinopithecus roxellana	104676811	RHIRO24742
Mandrillus leucophaeus	105528499	MANLE31495
Cercocebus atys	105594098	CERAT18015

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements