ChGn

CSGALNACT1
Identifiers
Aliases	CSGALNACT1 , CSGalNAcT-1, ChGn, beta4GalNAcT, chondroitin sulfate N-acetylgalactosaminyltransferase 1
External IDs	OMIM: 616615 MGI: 2442354 HomoloGene: 23099 GeneCards: CSGALNACT1
Gene location (Mouse)
Chr.	Chromosome 8 (mouse) [1]
End	68,735,146 bp [1]
RNA expression pattern
	More reference expression data
Gene ontology
Molecular function	• transferase activity ; • glucuronosyltransferase activity ; • metal ion binding ; • peptidoglycan glycosyltransferase activity ; • glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity ; • acetylgalactosaminyltransferase activity ; • glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity ;
Cellular component	• integral component of membrane ; • integral component of Golgi membrane ; • Golgi apparatus ; • membrane ; • Golgi membrane ; • intracellular ; • Golgi cisterna membrane ;
Biological process	• UDP-N-acetylgalactosamine metabolic process ; • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process ; • heparin biosynthetic process ; • cell recognition ; • chondroitin sulfate biosynthetic process ; • anatomical structure morphogenesis ; • extracellular matrix organization ; • endochondral ossification ; • UDP-glucuronate metabolic process ; • nervous system development ; • cartilage development ; • chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process ; • chondroitin sulfate proteoglycan biosynthetic process ; • cellular proliferation ; • proteoglycan biosynthetic process ; • dermatan sulfate proteoglycan biosynthetic process ; • chondroitin sulfate metabolic process ;
	Sources:Amigo / QuickGO
Orthologs
	55790
	234356
	n/a
	ENSMUSG00000036356
	Q8TDX6
	Q8BJQ9
	NM_001130518 ; NM_018371
	NM_001252623 ; NM_172753 ; NM_001364256
NP_001123990 ; NP_060841 ; NP_001341405 ; NP_001341406 ; NP_001341409 ;
	NP_001341410 ; NP_001341412 ; NP_001341413 ; NP_001341414 ; NP_001341416 ; NP_001341417 ; NP_001341418 ; NP_001341419 ; NP_001341420 ; NP_001341421 ; NP_001341423 ; NP_001341424 ; NP_001341425 ; NP_001341426 ; NP_001341427 ; NP_001341428 ; NP_001341404 Contents Clinical ; References ; Further reading ;
	NP_001239552 ; NP_766341 ; NP_001351185
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated April 12, 2020

Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the CSGALNACT1 gene.^[4]^[5]^[6]

Clinical

A form of mild skeletal dysplasia has been associated with mutations in this gene.^[7]

Related Research Articles

Glycosaminoglycan long unbranched polysaccharides consisting of a repeating disaccharide unit

Glycosaminoglycans (GAGs) or mucopolysaccharides are long linear polysaccharides consisting of repeating disaccharide units. Except for keratan, the repeating unit consists of an amino sugar, along with a uronic sugar or galactose. Because GAGs are highly polar and attract water, they are used in the body as a lubricant or shock absorber.

In enzymology, a N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase is an enzyme that catalyzes the chemical reaction

Brevican core protein is a protein that in humans is encoded by the BCAN gene. Brevican is a member of the lectican protein family.

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 is an enzyme that in humans is encoded by the B3GAT3 gene.

Carbohydrate sulfotransferase 15 is an enzyme that in humans is encoded by the CHST15 gene. It belongs to the N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase enzyme class.

Carbohydrate sulfotransferase 11 is an enzyme that in humans is encoded by the CHST11 gene.

Polypeptide N-acetylgalactosaminyltransferase 13 is an enzyme that in humans is encoded by the GALNT13 gene.

Chondroitin sulfate synthase 2 is an enzyme that in humans is encoded by the CHPF gene.

Chondroitin sulfate proteoglycan 5 is a protein that in humans is encoded by the CSPG5 gene.

Chondroitin sulfate synthase 1 is an enzyme that in humans is encoded by the CHSY1 gene.

Carbohydrate sulfotransferase 7 is an enzyme that in humans is encoded by the CHST7 gene.

Carbohydrate sulfotransferase 14 is an enzyme that in humans is encoded by the CHST14 gene.

General transcription factor IIE subunit 1 (GTF2E1), also known as transcription initiation factor IIE subunit alpha (TFIIE-alpha), is a protein that in humans is encoded by the GTF2E1 gene.

Glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase is an enzyme with systematic name UDP-N-acetyl-D-galactosamine:D-glucuronyl-(1->3)-beta-D-galactosyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase. This enzyme catalyses the following chemical reaction

Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase is an enzyme with systematic name UDP-N-acetyl-D-galactosamine:beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase. This enzyme catalyses the following chemical reaction

Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase is an enzyme with systematic name UDP-N-acetyl-D-glucosamine:beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan 4IV-alpha-N-acetyl-D-glucosaminyltransferase. This enzyme catalyses the following chemical reaction

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase is an enzyme with systematic name UDP-N-acetyl-D-glucosamine:beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase. This enzyme catalyses the following chemical reaction

N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase is an enzyme with systematic name UDP-N-acetyl-D-galactosamine:N-acetyl-beta-D-glucosaminyl-group 4-beta-N-acetylgalactosaminyltransferase. This enzyme catalyses the following chemical reaction

Dermatan 4-sulfotransferase is an enzyme with systematic name 3'-phospho-5'-adenylyl sulfate:(dermatan)-N-acetyl-D-galactosamine 4-sulfotransferase. This enzyme catalyses the following chemical reaction

Beta-1,3-N-acetylgalactosaminyltransferase 2 is a protein that in humans is encoded by the B3GALNT2 gene.

References

1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036356 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Sakai K, Kimata K, Sato T, Gotoh M, Narimatsu H, Shinomiya K, Watanabe H (Feb 2007). "Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage". The Journal of Biological Chemistry. 282 (6): 4152–61. doi: 10.1074/jbc.M606870200 . PMID 17145758.
↑ Sato T, Gotoh M, Kiyohara K, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Togayachi A, Kudo T, Asada M, Watanabe H, Imamura T, Kimata K, Narimatsu H (Jan 2003). "Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate". The Journal of Biological Chemistry. 278 (5): 3063–71. doi: 10.1074/jbc.M208886200 . PMID 12446672.
↑ "Entrez Gene: ChGn chondroitin beta1,4 N-acetylgalactosaminyltransferase".
↑ Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, et al. (Task Force for Neonatal Genomics) (November 2019). "CSGALNACT1-congenital disorder of glycosylation: a mild skeletal dysplasia with advanced bone age". Human Mutation. doi: 10.1002/humu.23952 . PMID 31705726.

ChGn

Contents

Clinical

Related Research Articles

References

Further reading