Seroatlas · Human Serome Atlas

B4GAT1

Beta-1,4-glucuronyltransferase 1

Also known as: B3GN-T1, B3GNT1, B3GNT6, B4GA1_HUMAN, BETA3GNTI, iGAT, IGnT

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

Protein identityUniProt · HPA

UniProt accession
O43505
Gene
B4GAT1
Ensembl
ENSG00000174684
Chromosome
11
Canonical length
415 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

415 residues, UniProt reviewed canonical sequence.

>O43505|B4GAT1
     1  MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP PSPRSVDQVK
    61  AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH ASVDNLLHLS GLLERWEGPL
   121  SVSVFAATKE EAQLATVLAY ALSSHCPDMR ARVAMHLVCP SRYEAAVPDP REPGEFALLR
   181  SCQEVFDKLA RVAQPGINYA LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL
   241  REMLDQSNQW GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN
   301  YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI SQACELHVAG
   361  FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF KQELKAKYPN SPRRC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B4GAT1 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
207 nTPM

Expression across tissuesHPA

Tissue

  • hypothalamus: 207 nTPM
  • cerebral cortex: 172 nTPM
  • basal ganglia: 152 nTPM
  • hippocampal formation: 118 nTPM
  • amygdala: 108 nTPM
  • cerebellum: 105 nTPM

Single-cell type

  • other brain neurons: 122 nCPM
  • cytotrophoblasts: 66 nCPM
  • müller glia: 64 nCPM
  • granulosa cells: 56 nCPM
  • brain inhibitory neurons: 54 nCPM
  • retinal horizontal cells: 52 nCPM

Immune cell

  • MAIT T-cell: 9.9 nTPM
  • naive CD4 T-cell: 9 nTPM
  • naive CD8 T-cell: 8.3 nTPM
  • memory CD4 T-cell: 7.8 nTPM
  • memory CD8 T-cell: 7.6 nTPM
  • plasmacytoid DC: 7.4 nTPM

Brain region

  • hypothalamus: 421 nTPM
  • cerebral cortex: 213 nTPM
  • basal ganglia: 213 nTPM
  • thalamus: 201 nTPM
  • hippocampal formation: 196 nTPM
  • pons: 170 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B4GAT1.

Disease | AllUniProt

Conditions B4GAT1 is implicated in, by any mechanism.

  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) MIM:615287

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 248 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)
0.8
gnomAD pLI
0.01
DepMap mean gene effect
-0.17
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

InteractionsUniProt · HPA

Protein binding partners of B4GAT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads B4GAT1 as an antibody target. Whether an autoantibody or antibody against B4GAT1 could matter depends on whether native B4GAT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B4GAT1 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 B4GAT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/B4GAT1. 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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