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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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B4GALT5
beta-1,4-galactosyltransferase 5
Chromosome 20 · 20q13.13
NCBI Gene: 9334Ensembl: ENSG00000158470.6HGNC: HGNC:928UniProt: O43286
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
trans-Golgi networkprotein bindingUDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activityneuron maturationneurodegenerative diseaselysosomal storage diseasesevere acute respiratory syndromeCOVID-19
✦AI Summary

B4GALT5 (beta-1,4-galactosyltransferase 5) is a Golgi-localized enzyme that catalyzes the synthesis of lactosylceramide (LacCer) from glucosylceramide (GlcCer) and UDP-galactose 1. This enzymatic activity is essential for glycosphingolipid metabolism, as LacCer serves as a precursor for complex gangliosides important in neuronal function 2. B4GALT5 shows selective importance in immune cell biology, being required for natural killer cell generation and CD8+ T cell expansion during viral infections through its role in cytotoxic granule integrity 2. The enzyme is subject to mannose 6-phosphate tagging and GOLPH3/GOLPH3L-mediated Golgi localization, suggesting regulation through lysosomal degradation pathways 3. In disease contexts, B4GALT5 exhibits oncogenic properties, promoting tumor cell immune evasion by suppressing MHC-I expression in pancreatic cancer 4 and correlating with poor prognosis in hepatocellular carcinoma and ovarian cancer 56. Additionally, B4GALT5 downregulation during acute kidney injury contributes to GlcCer accumulation and inflammatory responses 7, while its interaction with UGCG influences cardiac hypertrophy through mitochondrial oxidative stress 8.

Sources cited
1
B4GALT5 catalyzes lactosylceramide synthesis from glucosylceramide and UDP-galactose
PMID: 21057870
2
B4GALT5 is essential for NK cell generation and CD8+ T cell expansion through cytotoxic granule integrity
PMID: 40306279
3
B4GALT5 is tagged with mannose 6-phosphate and regulated by GOLPH3/GOLPH3L-mediated Golgi localization
PMID: 39587297
4
B4GALT5 promotes immune evasion by suppressing MHC-I expression in pancreatic cancer
PMID: 40316305
5
B4GALT5 high expression correlates with poor prognosis in hepatocellular carcinoma
PMID: 35410157
6
B4GALT5 expression associates with unfavorable outcomes in ovarian cancer
PMID: 39210397
7
B4GALT5 downregulation during acute kidney injury leads to GlcCer accumulation and inflammation
PMID: 41331311
8
B4GALT5 interacts with UGCG to influence cardiac hypertrophy through mitochondrial oxidative stress
PMID: 37658291
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.30Weak
COVID-19Open Targets
0.30Weak
macular degenerationOpen Targets
0.23Weak
placental retentionOpen Targets
0.23Weak
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
asthmaOpen Targets
0.07Suggestive
major depressive disorderOpen Targets
0.06Suggestive
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
obsessive-compulsive disorderOpen Targets
0.06Suggestive
obesityOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
leukemiaOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.03Suggestive
Insulin resistanceOpen Targets
0.03Suggestive
acute kidney injuryOpen Targets
0.03Suggestive
infectionOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GCNT1Protein interaction96%B4GALT6Protein interaction65%UGCGProtein interaction56%A4GNTShared pathway27%ST6GALNAC4Shared pathway25%ST6GALNAC2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
99%
Lung
68%
Heart
46%
Ovary
38%
Liver
37%
Gene Interaction Network
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B4GALT5GCNT1B4GALT6UGCGA4GNTST6GALNAC4ST6GALNAC2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O43286
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.41Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.24 [0.14–0.41]
RankingsWhere B4GALT5 stands among ~20K protein-coding genes
  • #9,973of 20,598
    Most Researched41
  • #2,172of 17,882
    Most Constrained (LOEUF)0.41 · top quartile
Genes detectedB4GALT5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Selective requirement of glycosphingolipid synthesis for natural killer and cytotoxic T cells.
PMID: 40306279
Cell · 2025
1.00
2
GOLPH3 and GOLPH3L maintain Golgi localization of LYSET and a functional mannose 6-phosphate transport pathway.
PMID: 39587297
EMBO J · 2024
0.90
3
B4GALT5 inhibits CD8
PMID: 40316305
J Immunother Cancer · 2025
0.80
4
UGCG modulates heart hypertrophy through B4GalT5-mediated mitochondrial oxidative stress and the ERK signaling pathway.
PMID: 37658291
Cell Mol Biol Lett · 2023
0.70
5
Altered glycolipid metabolism during acute kidney injury exacerbates renal inflammation.
PMID: 41331311
Sci Rep · 2025
0.60