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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 12 in total

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GO Term	Evidence Code	PMID
endochondral ossification	IEA
chondroitin sulfate biosynthetic process	IBA IDA TAS	11514575 12163485
proteoglycan biosynthetic process	ISS	11788602
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	NAS	11514575
cartilage development	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 2** entries
GO Term	Evidence Code	PMID
Golgi cisterna membrane	IEA
Golgi membrane	NAS TAS	11514575

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 6 in total

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GO Term	Evidence Code	PMID
acetylgalactosaminyltransferase activity	IDA ISS	11514575 11788602
glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA IDA TAS	12163485
glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	12163485
metal ion binding	NAS	12163485
peptidoglycan glycosyltransferase 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]

ion binding [inference]

cation binding [inference]

metal ion binding

Gene Ontology information from NCBI Gene and UniProt.

GlycoGene Database (GGDB)

GGDB ID

gg165

Gene Symbol

CSGALNACT1

Reactions

Displaying **all 5** entries
Donor	Acceptor	Product	Reference
UDP-GalNAc	G14371GV	G40609EP	12163485 12446672
UDP-GalNAc	G40723NG	G97081WO	12163485 12446672
UDP-GalNAc	G76533UX	G70907ST	12163485 12446672
UDP-GalNAc	G33235EO		12163485 12446672
UDP-GalNAc	G48258CR	G07747BZ	12163485 12446672

Orthologous Gene

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

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

Disease Ontology

Displaying entries **11 - 20** of 37 in total

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DO ID	Disease Name	Source
DOID:0110751	type 1 diabetes mellitus 12	DisGeNET
DOID:0110752	type 1 diabetes mellitus 13	DisGeNET
DOID:0110753	type 1 diabetes mellitus 15	DisGeNET
DOID:0110754	type 1 diabetes mellitus 17	DisGeNET
DOID:0110755	type 1 diabetes mellitus 18	DisGeNET
DOID:0110756	type 1 diabetes mellitus 19	DisGeNET
DOID:0110757	type 1 diabetes mellitus 20	DisGeNET
DOID:0110758	type 1 diabetes mellitus 21	DisGeNET
DOID:0110759	type 1 diabetes mellitus 22	DisGeNET
DOID:0110760	type 1 diabetes mellitus 23	DisGeNET

The Human Phenotype Ontology

Displaying entries **61 - 69** of 69 in total

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HPO ID	HPO Term
HP:0007018	Attention deficit hyperactivity disorder
HP:0007165	Periventricular heterotopia
HP:0008070	Sparse hair
HP:0008873	Disproportionate short-limb short stature
HP:0010318	Aplasia/Hypoplasia of the abdominal wall musculature
HP:0010880	Increased nuchal translucency
HP:0011800	Midface retrusion
HP:0100490	Camptodactyly of finger
HP:0200055	Small hand

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

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

Displaying entries **51 - 60** of 98 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Dipodomys ordii	105992963		DIPOR01118
Cricetulus griseus	100754969		CRIGR06729
Mus musculus	234356	MGI:2442354	MOUSE58790
Rattus norvegicus	306375	RGD:1307618	RATNO11471
Cavia porcellus	100725703		CAVPO00853
Octodon degus	101591356		OCTDE08242
Melopsittacus undulatus	101867699		MELUD07308
Monodelphis domestica	100030310		MONDO09372
Pelodiscus sinensis	102447091		PELSI09945
Anolis carolinensis	100560783		ANOCA08338

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