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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
negative regulation of ossification	IMP	21129727
proximal/distal pattern formation	IEA
sulfation	IEA
response to nutrient levels	IEA
chondrocyte development	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
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: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 **21 - 30** of 74 in total

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Species	Gene ID	OrthoDB	Orthologous MAtrix
Pan paniscus	100968775	9597_0:003d91	PANPA14249
Papio anubis	101012138		PAPAN37156
Takifugu rubripes	101067591		TAKRU00621
Felis catus	101083179		FELCA13666
Gorilla gorilla gorilla	101136357	9595_0:00406e	GORGO09902
Mustela putorius furo	101690476		MUSPF10375
Ficedula albicollis	101818662		FICAL05817
Chrysemys picta bellii	101945190		CHRPI05802
Ictidomys tridecemlineatus	101957211		ICTTR14410
Chinchilla lanigera	102019389		CHILA05430

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