Seroatlas · Human Serome Atlas

B3GAT3

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Also known as: B3GA3_HUMAN, GlcAT-I

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

Protein identityUniProt · HPA

UniProt accession
O94766
Gene
B3GAT3
Ensembl
ENSG00000149541
Chromosome
11
Canonical length
335 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

Canonical amino-acid sequenceUniProt

335 residues, UniProt reviewed canonical sequence.

>O94766|B3GAT3
     1  MKLKLKNVFL AYFLVSIAGL LYALVQLGQP CDCLPPLRAA AEQLRQKDLR ISQLQAELRR
    61  PPPAPAQPPE PEALPTIYVV TPTYARLVQK AELVRLSQTL SLVPRLHWLL VEDAEGPTPL
   121  VSGLLAASGL LFTHLVVLTP KAQRLREGEP GWVHPRGVEQ RNKALDWLRG RGGAVGGEKD
   181  PPPPGTQGVV YFADDDNTYS RELFEEMRWT RGVSVWPVGL VGGLRFEGPQ VQDGRVVGFH
   241  TAWEPSRPFP VDMAGFAVAL PLLLDKPNAQ FDSTAPRGHL ESSLLSHLVD PKDLEPRAAN
   301  CTRVLVWHTR TEKPKMKQEE QLQRQGRGSD PAIEV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B3GAT3 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)
0.33
Highest tissue expression
87 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 87 nTPM
  • cerebellum: 70 nTPM
  • basal ganglia: 68 nTPM
  • hippocampal formation: 65 nTPM
  • cerebral cortex: 64 nTPM
  • spinal cord: 63 nTPM

Single-cell type

  • cytotrophoblasts: 97 nCPM
  • decidual stromal cells: 83 nCPM
  • hofbauer cells: 81 nCPM
  • migrating cytotrophoblasts: 78 nCPM
  • extravillous trophoblasts: 73 nCPM
  • epididymal principal cells: 66 nCPM

Immune cell

  • NK-cell: 41 nTPM
  • non-classical monocyte: 34 nTPM
  • basophil: 32 nTPM
  • intermediate monocyte: 32 nTPM
  • classical monocyte: 29 nTPM
  • eosinophil: 27 nTPM

Brain region

  • pons: 83 nTPM
  • medulla oblongata: 75 nTPM
  • white matter: 66 nTPM
  • thalamus: 66 nTPM
  • cerebral cortex: 65 nTPM
  • cerebellum: 64 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B3GAT3.

Disease | AllUniProt

Conditions B3GAT3 is implicated in, by any mechanism.

  • Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) MIM:245600

Disease | GeneticClinVar

32 pathogenic / likely-pathogenic of 307 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Larsen-like syndrome, B3GAT3 type
  • MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS
  • MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS

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)
1.33
gnomAD pLI
0
gnomAD missense Z
0.69
DepMap mean gene effect
-0.19
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

InteractionsUniProt · HPA

Protein binding partners of B3GAT3 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 B3GAT3 as an antibody target. Whether an autoantibody or antibody against B3GAT3 could matter depends on whether native B3GAT3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B3GAT3 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 B3GAT3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/B3GAT3. 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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