B3GALNT1
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Also known as: B3GALANT1, B3GALT3, B3GL1_HUMAN, beta3Gal-T3, galT3, GLOB
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75752
- Gene
- B3GALNT1
- Ensembl
- ENSG00000169255
- Chromosome
- 3
- Canonical length
- 331 aa
- Protein class
- Blood group antigen proteins, Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Vesicles
OverviewNCBI Gene
This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
Canonical amino-acid sequenceUniProt
331 residues, UniProt reviewed canonical sequence.
>O75752|B3GALNT1
1 MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR
61 QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ
121 EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD
181 TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG
241 LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
301 QLRRVIAAHG FSSKEIITFW QVMLRNTTCH YLocalizationUniProt · AlphaFold · HPA
Whether an antibody against B3GALNT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 50 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 50 nTPM
- thyroid gland: 25 nTPM
- retina: 25 nTPM
- hypothalamus: 22 nTPM
- salivary gland: 21 nTPM
- cerebral cortex: 21 nTPM
Single-cell type
- cardiomyocytes: 138 nCPM
- retinal bipolar cells: 60 nCPM
- parietal cells: 60 nCPM
- other brain neurons: 51 nCPM
- brain inhibitory neurons: 45 nCPM
- retinal amacrine cells: 42 nCPM
Immune cell
- NK-cell: 22 nTPM
- basophil: 8.8 nTPM
- memory B-cell: 2.3 nTPM
- myeloid DC: 1.7 nTPM
- plasmacytoid DC: 1.1 nTPM
- naive CD8 T-cell: 0.9 nTPM
Brain region
- hypothalamus: 59 nTPM
- midbrain: 49 nTPM
- cerebral cortex: 47 nTPM
- basal ganglia: 47 nTPM
- pons: 41 nTPM
- thalamus: 34 nTPM
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.75
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- glycosphingolipid biosynthetic process
- oligosaccharide biosynthetic process
- protein O-linked glycosylation
Molecular functions
- N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity
- galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads B3GALNT1 as an antibody target. Whether an autoantibody or antibody against B3GALNT1 could matter depends on whether native B3GALNT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
B3GALNT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label B3GALNT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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