A4GALT Gene

HGNC Family	Glycosyltransferases
Name	alpha 1,4-galactosyltransferase
Description	The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The human A4GALT gene encodes a glycosyltransferase—commonly known as Gb3/CD77 synthase—that catalyzes the transfer of an α1,4‐linked galactose residue onto glycolipid precursors to form key globo‐series glycosphingolipids. In its canonical form, the enzyme synthesizes globotriaosylceramide (Gb3/CD77), which functions as the cellular receptor for toxins such as Shiga and verotoxins and thereby modulates susceptibility to toxin‐mediated damage. A4GALT is also essential for the biosynthesis of the P1 antigen, and its finely tuned expression and genetic regulation underlie the phenotypic variation observed in the P1PK blood group system. In addition, certain mutations or polymorphisms in A4GALT—including specific single-nucleotide variants, deletions in regulatory regions, or point mutations that alter the enzyme’s acceptor specificity (for instance, the Q211E substitution)—can lead either to the altered expression of conventional glycolipid antigens (P(k) and P1) or even to the production of novel antigenic determinants such as the NOR antigen. These genetic alterations can result in rare “null” (p) phenotypes that have clinical implications in transfusion medicine and reproductive outcomes. Collectively, these findings highlight the multifaceted role of A4GALT in determining glycolipid composition, mediating host–pathogen interactions through toxin receptor formation, and influencing blood group antigen expression via its regulated biosynthetic activity."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Britt Thuresson, Julia S Westman, Martin L Olsson "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2010-08-301333"}], "href": "https://doi.org/10.1182/blood-2010-08-301333"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20971946"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20971946"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Koichi Iwamura, Keiko Furukawa, Makoto Uchikawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle."}]}, {"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.M301609200"}], "href": "https://doi.org/10.1074/jbc.M301609200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12888565"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12888565"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Radoslaw Kaczmarek, Maria Duk, Katarzyna Szymczak, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human Gb3/CD77 synthase reveals specificity toward two or four different acceptors depending on amino acid at position 211, creating P(k), P1 and NOR blood group antigens."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2016.01.017"}], "href": "https://doi.org/10.1016/j.bbrc.2016.01.017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26773500"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26773500"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Yin-Ju Lai, Wan-Yi Wu, Chen-Ming Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A systematic study of single-nucleotide polymorphisms in the A4GALT gene suggests a molecular genetic basis for the P1/P2 blood groups."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transfusion (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/trf.12771"}], "href": "https://doi.org/10.1111/trf.12771"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25041587"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25041587"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Asa Hellberg, Anne-Christine Schmidt-Melbye, Marion E Reid, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transfusion (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1537-2995.2007.01552.x"}], "href": "https://doi.org/10.1111/j.1537-2995.2007.01552.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18067504"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18067504"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Y-C Wang, C-F Chang, H-C Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transfus Med (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1365-3148.2010.01055.x"}], "href": "https://doi.org/10.1111/j.1365-3148.2010.01055.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21092013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21092013"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Julia S Westman, Asa Hellberg, Thierry Peyrard, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Transfusion (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/trf.12543"}], "href": "https://doi.org/10.1111/trf.12543"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24417201"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24417201"}]}]}]}
Synonyms	P1PK, A14GALT, P(K), A4GALT1, GB3S
Proteins	A4GAT_HUMAN
NCBI Gene ID	53947
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

A4GALT has 5,912 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 115 datasets.

Click the + buttons to view associations for A4GALT from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

A4GALT 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 A4GALT 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 A4GALT 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 A4GALT 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 A4GALT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of A4GALT 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 A4GALT 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 A4GALT 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 A4GALT 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 A4GALT gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of A4GALT 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 A4GALT gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with A4GALT 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 A4GALT gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of A4GALT 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 A4GALT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with A4GALT gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with A4GALT gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of A4GALT gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of A4GALT gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing A4GALT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing A4GALT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with A4GALT 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 A4GALT 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 A4GALT gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with A4GALT gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with A4GALT gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with A4GALT gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by A4GALT 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 A4GALT 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 A4GALT 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 A4GALT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with A4GALT 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 A4GALT 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 A4GALT gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of A4GALT 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 A4GALT from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with A4GALT gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of A4GALT gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with A4GALT gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing A4GALT from the GeneSigDB Published Gene Signatures dataset.