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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 **6 - 10** of 12 in total

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GO Term	Evidence Code	PMID
chondroitin sulfate proteoglycan biosynthetic process	ISS	11788602
extracellular matrix organization	IEA
chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IDA	12163485
dermatan sulfate proteoglycan biosynthetic process	ISS	11788602
UDP-glucuronate 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 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 **31 - 37** of 37 in total

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DO ID	Disease Name	Source
DOID:4480	achondroplasia	DisGeNET
DOID:5672	large intestine cancer	DisGeNET
DOID:8689	anorexia nervosa	DisGeNET
DOID:8923	skin melanoma	DisGeNET
DOID:9256	colorectal cancer	DisGeNET DisGeNET
DOID:9521	Laron syndrome	DisGeNET
DOID:9744	type 1 diabetes mellitus	DisGeNET

The Human Phenotype Ontology

Displaying entries **41 - 50** of 69 in total

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HPO ID	HPO Term
HP:0002974	Radioulnar synostosis
HP:0002983	Micromelia
HP:0002999	Patellar dislocation
HP:0003042	Elbow dislocation
HP:0003066	Limited knee extension
HP:0003180	Flat acetabular roof
HP:0003307	Hyperlordosis
HP:0003316	Butterfly vertebrae
HP:0003366	Abnormal femoral neck/head morphology
HP:0003417	Coronal cleft vertebrae

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

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	36079	FB:FBgn0033500
Callorhinchus milii	103186731		CALMI35330
Latimeria chalumnae	102366614		LATCH11092
Danio rerio	793671	ZFIN:ZDB-GENE-121129-1	DANRE01642
Danio rerio	101886904	ZFIN:ZDB-GENE-130530-957
Astyanax mexicanus	103045746		ASTMX12859
Esox lucius	105026679		ESOLU40426
Salmo salar	106561858		SALSA70963
Salmo salar	106568408		SALSA29109
Salmo trutta	115149376		SALTR17682

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