Seroatlas · Human Serome Atlas

B4GALNT3

Beta-1,4-N-acetylgalactosaminyltransferase 3

Also known as: B4GalNac-T3, B4GN3_HUMAN, FLJ16224, FLJ40362

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

Protein identityUniProt · HPA

UniProt accession: Q6L9W6
Gene: B4GALNT3
Ensembl: ENSG00000139044
Chromosome: 12
Canonical length: 998 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Vesicles

OverviewNCBI Gene

B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]

Canonical amino-acid sequenceUniProt

998 residues, UniProt reviewed canonical sequence.

>Q6L9W6|B4GALNT3
     1  MGSPRAARPP LLLRPVKLLR RRFRLLLALA VVSVGLWTLY LELVASAQVG GNPLNRRYGS
    61  WRELAKALAS RNIPAVDPHL QFYHPQRLSL EDHDIDQGVS SNSSYLKWNK PVPWLSEFRG
   121  RANLHVFEDW CGSSIQQLRR NLHFPLYPHI RTTLRKLAVS PKWTNYGLRI FGYLHPFTDG
   181  KIQFAIAADD NAEFWLSLDD QVSGLQLLAS VGKTGKEWTA PGEFGKFRSQ ISKPVSLSAS
   241  HRYYFEVLHK QNEEGTDHVE VAWRRNDPGA KFTIIDSLSL SLFTNETFLQ MDEVGHIPQT
   301  AASHVDSSNA LPRDEQPPAD MLRPDPRDTL YRVPLIPKSH LRHVLPDCPY KPSYLVDGLP
   361  LQRYQGLRFV HLSFVYPNDY TRLSHMETHN KCFYQENAYY QDRFSFQEYI KIDQPEKQGL
   421  EQPGFEENLL EESQYGEVAE ETPASNNQNA RMLEGRQTPA STLEQDATDY RLRSLRKLLA
   481  QPREGLLAPF SKRNSTASFP GRTSHIPVQQ PEKRKQKPSP EPSQDSPHSD KWPPGHPVKN
   541  LPQMRGPRPR PAGDSPRKTQ WLNQVESYIA EQRRGDRMRP QAPGRGWHGE EEVVAAAGQE
   601  GQVEGEEEGE EEEEEEDMSE VFEYVPVFDP VVNWDQTFSA RNLDFQALRT DWIDLSCNTS
   661  GNLLLPEQEA LEVTRVFLKK LNQRSRGRYQ LQRIVNVEKR QDQLRGGRYL LELELLEQGQ
   721  RVVRLSEYVS ARGWQGIDPA GGEEVEARNL QGLVWDPHNR RRQVLNTRAQ EPKLCWPQGF
   781  SWSHRAVVHF VVPVKNQARW VQQFIKDMEN LFQVTGDPHF NIVITDYSSE DMDVEMALKR
   841  SKLRSYQYVK LSGNFERSAG LQAGIDLVKD PHSIIFLCDL HIHFPAGVID AIRKHCVEGK
   901  MAFAPMVMRL HCGATPQWPE GYWEVNGFGL LGIYKSDLDR IGGMNTKEFR DRWGGEDWEL
   961  LDRILQAGLD VERLSLRNFF HHFHSKRGMW SRRQMKTL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B4GALNT3 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): 0.39
Highest tissue expression: 58 nTPM

Expression across tissuesHPA

Tissue

stomach: 58 nTPM
heart muscle: 22 nTPM
colon: 17 nTPM
parathyroid gland: 16 nTPM
rectum: 12 nTPM
skin: 9.9 nTPM

Single-cell type

foveolar cells: 977 nCPM
ocular epithelial cells: 562 nCPM
endometrial glandular cells: 546 nCPM
suprabasal keratinocytes: 494 nCPM
thyrotrophs: 349 nCPM
basal keratinocytes: 348 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

choroid plexus: 6.3 nTPM
cerebral cortex: 6.1 nTPM
white matter: 5.6 nTPM
hippocampal formation: 5 nTPM
amygdala: 4.5 nTPM
basal ganglia: 3.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about B4GALNT3.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Susceptibility to severe COVID-19

Disease | ImmuneIEDB

Conditions an epitope on B4GALNT3 was assayed in.

melanoma T cell

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): 0.78
gnomAD pLI: 0
gnomAD missense Z: 0.71
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads B4GALNT3 as an antibody target. Whether an autoantibody or antibody against B4GALNT3 could matter depends on whether native B4GALNT3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B4GALNT3 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 B4GALNT3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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