CSGALNACT1 Gene

HGNC Family	Glycosyltransferases
Name	chondroitin sulfate N-acetylgalactosaminyltransferase 1
Description	This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nCSGALNACT1 encodes chondroitin sulfate N‐acetylgalactosaminyltransferase‐1, a type II membrane glycosyltransferase that plays a central role in glycosaminoglycan (GAG) biosynthesis. It catalyzes the initial transfer of N‐acetylgalactosamine (GalNAc) to glucuronic acid (GlcA) within the linkage tetrasaccharide that primes the assembly of chondroitin and dermatan sulfate chains. Notably, enzymatic studies have shown that the activity of CSGALNACT1 is strongly influenced by the sulfation pattern of acceptor substrates, with sulfation at specific positions markedly enhancing its initiation efficiency."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAltered function of CSGALNACT1, whether by natural variation or mutation, leads to perturbations in GAG composition that have significant tissue‐level consequences. Biallelic loss‐of‐function mutations in CSGALNACT1 have been linked to a mild skeletal dysplasia characterized by short stature and advanced bone age, features falling within the spectrum of congenital disorders of glycosylation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Similarly, missense mutations causing loss of enzymatic activity have been detected in patients with peripheral neuropathies and, intriguingly, a specific coding single nucleotide polymorphism (p.S126L) has been associated with a more favorable clinical progression in multiple sclerosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Furthermore, studies contrasting fetal with adult skin have demonstrated higher levels of chondroitin sulfate expression in fetal dermis, suggesting that CSGALNACT1‐mediated GAG synthesis contributes to the scarless nature of early-gestation wound healing."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition, in vitro reconstitution experiments using recombinant glycosyltransferases have underscored the enzyme’s dual capability in mediating both initiation (and, in some contexts, extension) of chondroitin sulfate chains. Such studies not only provide a mechanistic framework for understanding enzyme specificity but also highlight potential broader implications in extracellular matrix regulation, as suggested by research into pathological conditions involving matrix degradation, such as Kashin-Beck disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Takashi Sato, Masanori Gotoh, Katsue Kiyohara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M208886200"}], "href": "https://doi.org/10.1074/jbc.M208886200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12446672"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12446672"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sandrine Gulberti, Jean-Claude Jacquinet, Matthieu Chabel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chondroitin sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) involved in chondroitin sulfate initiation: Impact of sulfation on activity and specificity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Glycobiology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/glycob/cwr172"}], "href": "https://doi.org/10.1093/glycob/cwr172"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22156920"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22156920"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Shuji Mizumoto, Andreas R Janecke, Azita Sadeghpour, et al. "}, {"type": "b", "children": [{"type": "t", "text": "CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.23952"}], "href": "https://doi.org/10.1002/humu.23952"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31705726"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31705726"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Kazumasa Saigoh, Tomomi Izumikawa, Toshiyasu Koike, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2010.148"}], "href": "https://doi.org/10.1038/jhg.2010.148"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21160489"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21160489"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Kazumasa Saigoh, Satoshi Yoshimura, Tomomi Izumikawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Chondroitin sulfate β-1,4-N-acetylgalactosaminyltransferase-1 (ChGn-1) polymorphism: Association with progression of multiple sclerosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurosci Res (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.neures.2016.01.002"}], "href": "https://doi.org/10.1016/j.neures.2016.01.002"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26806424"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26806424"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Neeltje A Coolen, Kelly C W M Schouten, Esther Middelkoop, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comparison between human fetal and adult skin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Dermatol Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00403-009-0989-8"}], "href": "https://doi.org/10.1007/s00403-009-0989-8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19701759"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19701759"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Masanori Gotoh, Takashi Sato, Tomohiro Akashima, et al. "}, {"type": "b", "children": [{"type": "t", "text": "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."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M203619200"}], "href": "https://doi.org/10.1074/jbc.M203619200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12163485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12163485"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Jingjing Zheng, Cuiyan Wu, Weijuan Ma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Abnormal expression of chondroitin sulphate N-acetylgalactosaminyltransferase 1 and Hapln-1 in cartilage with Kashin-Beck disease and primary osteoarthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int Orthop (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00264-013-1937-y"}], "href": "https://doi.org/10.1007/s00264-013-1937-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23748413"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23748413"}]}]}]}
Synonyms	BETA4GALNACT, CHGN, CSGALNACT-1, ChGn-1
Proteins	CGAT1_HUMAN
NCBI Gene ID	55790
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

CSGALNACT1 has 9,791 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for CSGALNACT1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

CSGALNACT1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by CSGALNACT1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CSGALNACT1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of CSGALNACT1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of CSGALNACT1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of CSGALNACT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of CSGALNACT1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of CSGALNACT1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of CSGALNACT1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CSGALNACT1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of CSGALNACT1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of CSGALNACT1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of CSGALNACT1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of CSGALNACT1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with CSGALNACT1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CSGALNACT1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of CSGALNACT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of CSGALNACT1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with CSGALNACT1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of CSGALNACT1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing CSGALNACT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing CSGALNACT1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing CSGALNACT1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with CSGALNACT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with CSGALNACT1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of CSGALNACT1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with CSGALNACT1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with CSGALNACT1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with CSGALNACT1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with CSGALNACT1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by CSGALNACT1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with CSGALNACT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with CSGALNACT1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with CSGALNACT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with CSGALNACT1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at CSGALNACT1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of CSGALNACT1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of CSGALNACT1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing CSGALNACT1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with CSGALNACT1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with CSGALNACT1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.