C1GALT1C1 Gene

Name	C1GALT1-specific chaperone 1
Description	This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n C1GALT1C1, commonly known as Cosmc, is an X‐linked molecular chaperone that plays an essential role in the proper folding and function of T‐synthase—the sole glycosyltransferase responsible for converting the Tn antigen (GalNAcα1–Ser/Thr) into the core 1 O‐glycan structure. By directly interacting with and stabilizing nascent T‐synthase in the endoplasmic reticulum, Cosmc prevents its aggregation and subsequent proteasomal degradation, thereby ensuring the successful elongation of O‐glycans on glycoproteins."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Loss‐of-function alterations—whether by somatic mutations, epigenetic changes, or altered gene expression—result in defective O‐glycan biosynthesis and the accumulation of truncated glycans such as Tn and sialyl-Tn. Such aberrant glycosylation has been implicated in the pathogenesis of diverse human disorders, including various cancers and IgA nephropathy, where improper glycosylation of immunoglobulin A1 contributes to disease development."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, C1GALT1C1/Cosmc serves as a critical quality-control checkpoint within the O‐glycosylation pathway by ensuring the generation of functional T‐synthase. Its proper function is necessary for mature glycan synthesis, and disruption of Cosmc leads to the expression of oncogenic and immunologically active truncated glycan structures that not only affect cell signaling and adhesion but also modulate immune responses.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Tongzhong Ju, Grainger S Lanneau, Tripti Gautam, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human tumor antigens Tn and sialyl Tn arise from mutations in Cosmc."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-07-2345"}], "href": "https://doi.org/10.1158/0008-5472.CAN-07-2345"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18339842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18339842"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tongzhong Ju, Rajindra P Aryal, Caleb J Stowell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Regulation of protein O-glycosylation by the endoplasmic reticulum-localized molecular chaperone Cosmc."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.200711151"}], "href": "https://doi.org/10.1083/jcb.200711151"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18695044"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18695044"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yingchun Wang, Tongzhong Ju, Xiaokun Ding, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cosmc is an essential chaperone for correct protein O-glycosylation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.0914004107"}], "href": "https://doi.org/10.1073/pnas.0914004107"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20439703"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20439703"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tongzhong Ju, Richard D Cummings "}, {"type": "b", "children": [{"type": "t", "text": "Protein glycosylation: chaperone mutation in Tn syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/4371252a"}], "href": "https://doi.org/10.1038/4371252a"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16251947"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16251947"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Krzysztof Kiryluk, Yifu Li, Zina Moldoveanu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1006609"}], "href": "https://doi.org/10.1371/journal.pgen.1006609"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28187132"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28187132"}]}]}]}
Synonyms	MST143, COSMC, C1GALT2, TNPS, HSPC067, C38H2-L1
Proteins	C1GLC_HUMAN
NCBI Gene ID	29071
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

C1GALT1C1 has 5,659 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 117 datasets.

Click the + buttons to view associations for C1GALT1C1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

C1GALT1C1 Gene

Functional Associations

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

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of C1GALT1C1 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 C1GALT1C1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with C1GALT1C1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with C1GALT1C1 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 C1GALT1C1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of C1GALT1C1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing C1GALT1C1 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of C1GALT1C1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing C1GALT1C1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing C1GALT1C1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with C1GALT1C1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with C1GALT1C1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with C1GALT1C1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of C1GALT1C1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by C1GALT1C1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving C1GALT1C1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with C1GALT1C1 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 C1GALT1C1 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 C1GALT1C1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of C1GALT1C1 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 C1GALT1C1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.