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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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B3GALNT1
beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
Chromosome 3 · 3q26.1
NCBI Gene: 8706Ensembl: ENSG00000169255.16HGNC: HGNC:918UniProt: B3KTQ4
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activityoligosaccharide biosynthetic processGolgi membranegalactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activityhypertensionexperimental autoimmune encephalomyelitisAbnormality of the skeletal systemovarian dysfunction
✦AI Summary

B3GALNT1 encodes beta-1,3-N-acetylgalactosaminyltransferase 1, an enzyme that transfers N-acetylgalactosamine onto globotriaosylceramide to synthesize globoside (P antigen), a major glycosphingolipid on erythrocyte membranes 1. The enzyme also synthesizes the PX2 antigen, making both P and PX2 part of the GLOB blood group system 1. Mutations in B3GALNT1 result in the rare P-deficient phenotypes (Pk, P1k, P2k), characterized by absence of functional P synthase 2. These deficiencies lead to naturally occurring anti-P and anti-PX2 antibodies that can cause hemolytic transfusion reactions and recurrent miscarriages due to cytotoxic attack on the globoside-rich fetal placenta 3 2. Globoside serves as an essential cofactor for parvovirus B19 infection, being dispensable for viral entry but required for productive infection post-entry 4. Additionally, B3GALNT1 has been identified as a potential therapeutic target in non-small cell lung cancer metastasis 5 and plays a role in cardiac remodeling, where macrophage-specific silencing improves cardiac function following myocardial infarction 6.

Sources cited
1
B3GALNT1 synthesizes both P antigen (globoside) and PX2 antigen by transferring N-acetylgalactosamine onto globotriaosylceramide
PMID: 26055721
2
B3GALNT1 mutations cause globoside deficiency and naturally occurring anti-P antibodies that can cause transfusion reactions and pregnancy complications
PMID: 24046919
3
B3GALNT1 mutations lead to recurrent miscarriages due to anti-P antibodies attacking globoside-rich fetal placenta
PMID: 29873420
4
Globoside is essential for productive parvovirus B19 infection but not required for viral entry
PMID: 31341051
5
B3GALNT1 is identified as a potential therapeutic target for non-small cell lung cancer metastasis
PMID: 25521548
6
Macrophage-specific silencing of B3GALNT1 improves cardiac function and reduces fibrosis after myocardial infarction
PMID: 40894159
Disease Associationsⓘ20
hypertensionOpen Targets
0.20Weak
experimental autoimmune encephalomyelitisOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
ovarian dysfunctionOpen Targets
0.06Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.06Suggestive
mixed connective tissue diseaseOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
ApneaOpen Targets
0.03Suggestive
HIV-1 infectionOpen Targets
0.03Suggestive
microphthalmia with limb anomaliesOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
brain neoplasmOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
gliomaOpen Targets
0.03Suggestive
COVID-19Open Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
kidney diseaseOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
A3GALT2Protein interaction94%B4GALT1Protein interaction93%B4GALT3Protein interaction93%B4GALT2Protein interaction93%B4GALT4Protein interaction93%GLAProtein interaction91%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
25%
Brain
15%
Ovary
12%
Lung
9%
Liver
1%
Gene Interaction Network
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B3GALNT1A3GALT2B4GALT1B4GALT3B4GALT2B4GALT4GLA
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O75752
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.41–0.90]
RankingsWhere B3GALNT1 stands among ~20K protein-coding genes
  • #10,588of 20,598
    Most Researched37
  • #8,126of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedB3GALNT1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TINAGL1 and B3GALNT1 are potential therapy target genes to suppress metastasis in non-small cell lung cancer.
PMID: 25521548
BMC Genomics · 2014
1.00
2
Chromosomal rearrangements and copy number abnormalities of TP63 correlate with p63 protein expression in lung adenocarcinoma.
PMID: 25189640
Mod Pathol · 2015
0.90
3
Identification of the Molecular and Genetic Basis of PX2, a Glycosphingolipid Blood Group Antigen Lacking on Globoside-deficient Erythrocytes.
PMID: 26055721
J Biol Chem · 2015
0.80
4
Globoside Is Dispensable for Parvovirus B19 Entry but Essential at a Postentry Step for Productive Infection.
PMID: 31341051
J Virol · 2019
0.70
5
An update on the GLOB blood group system and collection.
PMID: 24046919
Immunohematology · 2013
0.60