Seroatlas · Human Serome Atlas

B3GLCT

Beta-1,3-glucosyltransferase

Also known as: B3GALTL, B3Glc-T, B3GLT_HUMAN, B3GTL

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6Y288
Gene
B3GLCT
Ensembl
ENSG00000187676
Chromosome
13
Canonical length
498 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

498 residues, UniProt reviewed canonical sequence.

>Q6Y288|B3GLCT
     1  MRPPACWWLL APPALLALLT CSLAFGLASE DTKKEVKQSQ DLEKSGISRK NDIDLKGIVF
    61  VIQSQSNSFH AKRAEQLKKS ILKQAADLTQ ELPSVLLLHQ LAKQEGAWTI LPLLPHFSVT
   121  YSRNSSWIFF CEEETRIQIP KLLETLRRYD PSKEWFLGKA LHDEEATIIH HYAFSENPTV
   181  FKYPDFAAGW ALSIPLVNKL TKRLKSESLK SDFTIDLKHE IALYIWDKGG GPPLTPVPEF
   241  CTNDVDFYCA TTFHSFLPLC RKPVKKKDIF VAVKTCKKFH GDRIPIVKQT WESQASLIEY
   301  YSDYTENSIP TVDLGIPNTD RGHCGKTFAI LERFLNRSQD KTAWLVIVDD DTLISISRLQ
   361  HLLSCYDSGE PVFLGERYGY GLGTGGYSYI TGGGGMVFSR EAVRRLLASK CRCYSNDAPD
   421  DMVLGMCFSG LGIPVTHSPL FHQARPVDYP KDYLSHQVPI SFHKHWNIDP VKVYFTWLAP
   481  SDEDKARQET QKGFREEL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B3GLCT 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)
0.27
Highest tissue expression
17 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 17 nTPM
  • endometrium: 12 nTPM
  • smooth muscle: 12 nTPM
  • basal ganglia: 11 nTPM
  • choroid plexus: 11 nTPM
  • parathyroid gland: 7.6 nTPM

Single-cell type

  • ependymal cells: 215 nCPM
  • cone photoreceptor cells: 178 nCPM
  • brain inhibitory neurons: 129 nCPM
  • retinal ganglion cells: 124 nCPM
  • choroid plexus epithelial cells: 116 nCPM
  • cardiomyocytes: 115 nCPM

Immune cell

  • MAIT T-cell: 3.5 nTPM
  • memory CD8 T-cell: 2.7 nTPM
  • gdT-cell: 2.4 nTPM
  • basophil: 1.7 nTPM
  • naive CD8 T-cell: 1.6 nTPM
  • memory CD4 T-cell: 1.5 nTPM

Brain region

  • thalamus: 24 nTPM
  • choroid plexus: 23 nTPM
  • basal ganglia: 20 nTPM
  • midbrain: 20 nTPM
  • amygdala: 14 nTPM
  • cerebral cortex: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B3GLCT.

Disease | AllUniProt

Conditions B3GLCT is implicated in, by any mechanism.

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 369 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.29
gnomAD pLI
0
DepMap mean gene effect
0.01
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads B3GLCT as an antibody target. Whether an autoantibody or antibody against B3GLCT could matter depends on whether native B3GLCT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B3GLCT 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 B3GLCT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/B3GLCT. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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