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chondroitin sulfate N-acetylgalactosaminyltransferase 1

Summary

Gene Symbol

CSGALNACT1

Aliases

CSGalNAcT-1
ChGn
FLJ11264
chondroitin beta1,4 N-acetylgalactosaminyltransferase
glucuronylgalactosylproteoglycan 4-beta-N- acetylgalactosaminyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

55790

GGDB ID

gg165

HGNC

24290

mRNA

NM_018371

map

8p21.3

Protein

NP_060841

OMIM

616615

KEGG Gene ID

hsa:55790

PubChem

55790

Alliance of Genome Resources

HGNC:24290

Annotation

Keyword

Alternative splicing
Coiled coil
Disease variant
Dwarfism
Glycoprotein
Golgi apparatus
Metal-binding
Reference proteome
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
Q8TDX6	Chondroitin beta-1,4-N-acetylgalactosaminyltransferase 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 14 in total

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GO Term	Evidence Code	PMID
endochondral ossification	IEA
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	NAS	11514575
UDP-N-acetylgalactosamine metabolic process	IDA	11514575
proteoglycan biosynthetic process	ISS	11788602
extracellular matrix organization	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

UDP-glucuronate metabolic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

phosphorus metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

primary metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

UDP-glucuronate metabolic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

organic substance metabolic process [inference]

carbohydrate metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

UDP-glucuronate metabolic process

macromolecule metabolic process [inference]

polysaccharide metabolic process [inference]

polysaccharide biosynthetic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

amino sugar metabolic process [inference]

UDP-N-acetylgalactosamine metabolic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

nucleotide-sugar metabolic process [inference]

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process [inference]

mucopolysaccharide metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process

chondroitin sulfate proteoglycan metabolic process [inference]

chondroitin sulfate proteoglycan biosynthetic process

dermatan sulfate proteoglycan metabolic process [inference]

dermatan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

carbohydrate biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

UDP-glucuronate metabolic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

sulfur compound metabolic process [inference]

heparin metabolic process [inference]

heparin biosynthetic process

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

phosphorus metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

polysaccharide biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process [inference]

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process

sulfur compound biosynthetic process [inference]

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization

external encapsulating structure organization [inference]

extracellular matrix organization

multicellular organismal process [inference]

ossification [inference]

replacement ossification [inference]

endochondral ossification

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

cartilage development

Displaying **all 3** entries
GO Term	Evidence Code	PMID
Golgi membrane	NAS	11514575
Golgi membrane	TAS
Golgi cisterna membrane	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

Golgi cisterna membrane

bounding membrane of organelle [inference]

Golgi membrane

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
protein binding	IPI	32296183
acetylgalactosaminyltransferase activity	ISS	11788602
acetylgalactosaminyltransferase activity	IDA	11514575
peptidoglycan glycosyltransferase activity	IDA	11514575
glucuronosyltransferase activity	IDA	11514575

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylgalactosaminyltransferase activity

glucuronosyltransferase activity

hexosyltransferase activity [inference]

acetylgalactosaminyltransferase activity

binding [inference]

protein binding

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

gg165

Gene Symbol

CSGALNACT1

Reactions

Displaying **all 4** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-GalNAc	G14371GV	o-methoxyphenyl	G40609EP	o-methoxyphenyl	12163485 12446672
UDP-GalNAc	G76533UX		G70907ST		12163485 12446672
UDP-GalNAc	G40723NG		G97081WO		12163485 12446672
UDP-GalNAc	G48258CR		G07747BZ		12163485 12446672

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Drosophila melanogaster	NP_610567	NM_136723
Mus musculus	NP_766341	NM_172753
Rattus norvegicus	XP_224757	XM_224757

KEGG BRITE Database

Orthology

K00746

Name

chondroitin sulfate N-acetylgalactosaminyltransferase 1/2 [EC:2.4.1.174 2.4.1.175]

References

11788602

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R05929	2.4.1.174	G14371GV	G40609EP

Rhea

RHEA:23464

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.174

PMID

Disease

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000256	Macrocephaly
HP:0000308	Microretrognathia
HP:0000311	Round face
HP:0000343	Long philtrum
HP:0000368	Low-set, posteriorly rotated ears
HP:0000444	Convex nasal ridge
HP:0000463	Anteverted nares
HP:0000470	Short neck
HP:0000494	Downslanted palpebral fissures

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:1425	Desbuquois dysplasia
OMIM:618870	skeletal dysplasia, mild, with joint laxity and advanced bone age

PubChem Disease

MedGen Diseases

Skeletal dysplasia, mild, with joint laxity and advanced bone age

OMIM Phenotypes

SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA

KEGG Diseases

Skeletal dysplasia with joint laxity and advanced bone age

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	36079	Xenbase:XB-GENE-976931
Drosophila melanogaster	55454	FB:FBgn0033500
Xenopus tropicalis	55790	Xenbase:XB-GENE-976931
Drosophila melanogaster	78752	FB:FBgn0033500
Mus musculus	234356	Xenbase:XB-GENE-976931	MOUSE58790
Drosophila melanogaster	297554	FB:FBgn0033500
Rattus norvegicus	306375	Xenbase:XB-GENE-976931	RATNO11471
Pan troglodytes	464030		PANTR42067
Canis lupus familiaris	482831		CANLF04636
Bos taurus	528057		BOVIN22189

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UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements