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CSGALNACT1
Identifiers
Aliases	CSGALNACT1, CSGalNAcT-1, ChGn, beta4GalNAcT, chondroitin sulfate N-acetylgalactosaminyltransferase 1
External IDs	OMIM: 616615; MGI: 2442354; HomoloGene: 23099; GeneCards: CSGALNACT1; OMA:CSGALNACT1 - orthologs
Gene location (Mouse) Chr. Chromosome 8 (mouse) Band 8|8 B3.3 Start 68,809,433 bp End 69,187,798 bp
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in stroma of bone marrow blood Epithelium of choroid plexus hair follicle sciatic nerve proximal tubule motor neuron Pituitary Gland endothelial cell of lymphatic vessel fossa BioGPS 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 anatomical structure 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 cell population proliferation proteoglycan biosynthetic process dermatan sulfate proteoglycan biosynthetic process chondroitin sulfate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 55790 234356 Ensembl ENSG00000147408 ENSMUSG00000036356 UniProt Q8TDX6 Q8BJQ9 RefSeq (mRNA) NM_001130518 NM_018371 NM_001252623 NM_172753 NM_001364256 RefSeq (protein) 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 NP_001239552 NP_766341 NP_001351185 Location (UCSC) n/a Chr 8: 68.81 – 69.19 Mb PubMed search
Wikidata
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Chondroitin sulfate N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the CSGALNACT1 gene.

Clinical

A form of mild skeletal dysplasia has been associated with mutations in this gene.

References

1. ^ GRCm38: Ensembl release 89: ENSMUSG00000036356 – Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. 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.
5. 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.
6. "Entrez Gene: ChGn chondroitin beta1,4 N-acetylgalactosaminyltransferase".
7. 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. 41 (3): 655–667. doi:10.1002/humu.23952. PMC 7027858. PMID 31705726.

Further reading

• Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Nishihara S, Watanabe H, Kimata K, Narimatsu H (Oct 2002). "Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis". The Journal of Biological Chemistry. 277 (41): 38189–96. doi:10.1074/jbc.M203619200. PMID 12163485.
• Uyama T, Kitagawa H, Tamura Ji J, Sugahara K (Mar 2002). "Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate". The Journal of Biological Chemistry. 277 (11): 8841–6. doi:10.1074/jbc.M111434200. PMID 11788602.
• Kitagawa H, Uyama T, Sugahara K (Oct 2001). "Molecular cloning and expression of a human chondroitin synthase". The Journal of Biological Chemistry. 276 (42): 38721–6. doi:10.1074/jbc.M106871200. PMID 11514575.

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