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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 **11 - 12** of 12 in total

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GO Term	Evidence Code	PMID
heparin biosynthetic process	NAS	11514575
UDP-N-acetylgalactosamine metabolic process	IDA	11514575

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 entry **6 - 6** of 6 in total

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GO Term	Evidence Code	PMID
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]

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

UDP-N-acetyl-α-D-galactosamine

H⁺ + UDP

Enzyme

2.4.1.174

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 37 in total

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DO ID	Disease Name	Source
DOID:0110741	type 1 diabetes mellitus 2	DisGeNET
DOID:0110742	type 1 diabetes mellitus 3	DisGeNET
DOID:0110743	type 1 diabetes mellitus 4	DisGeNET
DOID:0110744	type 1 diabetes mellitus 5	DisGeNET
DOID:0110745	type 1 diabetes mellitus 6	DisGeNET
DOID:0110746	type 1 diabetes mellitus 7	DisGeNET
DOID:0110747	type 1 diabetes mellitus 8	DisGeNET
DOID:0110748	obsolete type 1 diabetes mellitus 9	DisGeNET
DOID:0110749	type 1 diabetes mellitus 10	DisGeNET
DOID:0110750	type 1 diabetes mellitus 11	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 69 in total

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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
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

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Last updated: August 19, 2024