Seroatlas · Human Serome Atlas

B4GALT6

Beta-1,4-galactosyltransferase 6

Also known as: B4GT6_HUMAN, beta4GalT-VI

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

Protein identityUniProt · HPA

UniProt accession: Q9UBX8
Gene: B4GALT6
Ensembl: ENSG00000118276
Chromosome: 18
Canonical length: 382 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]

Canonical amino-acid sequenceUniProt

382 residues, UniProt reviewed canonical sequence.

>Q9UBX8|B4GALT6
     1  MSVLRRMMRV SNRSLLAFIF FFSLSSSCLY FIYVAPGIAN TYLFMVQARG IMLRENVKTI
    61  GHMIRLYTNK NSTLNGTDYP EGNNSSDYLV QTTTYLPENF TYSPYLPCPE KLPYMRGFLN
   121  VNVSEVSFDE IHQLFSKDLD IEPGGHWRPK DCKPRWKVAV LIPFRNRHEH LPIFFLHLIP
   181  MLQKQRLEFA FYVIEQTGTQ PFNRAMLFNV GFKEAMKDSV WDCVIFHDVD HLPENDRNYY
   241  GCGEMPRHFA AKLDKYMYIL PYKEFFGGVS GLTVEQFRKI NGFPNAFWGW GGEDDDLWNR
   301  VHYAGYNVTR PEGDLGKYKS IPHHHRGEVQ FLGRYKLLRY SKERQYIDGL NNLIYRPKIL
   361  VDRLYTNISV NLMPELAPIE DY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against B4GALT6 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): 0.29
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

retina: 25 nTPM
adrenal gland: 17 nTPM
cerebellum: 17 nTPM
cerebral cortex: 15 nTPM
small intestine: 9.7 nTPM
parathyroid gland: 8.6 nTPM

Single-cell type

retinal bipolar cells: 560 nCPM
thyrotrophs: 188 nCPM
retinal ganglion cells: 155 nCPM
retinal amacrine cells: 152 nCPM
adrenal cortex cells: 152 nCPM
lactotrophs: 136 nCPM

Immune cell

NK-cell: 1.4 nTPM
naive CD8 T-cell: 0.3 nTPM
gdT-cell: 0.2 nTPM
memory CD8 T-cell: 0.2 nTPM
myeloid DC: 0.1 nTPM
non-classical monocyte: 0.1 nTPM

Brain region

cerebral cortex: 60 nTPM
cerebellum: 54 nTPM
thalamus: 46 nTPM
hippocampal formation: 45 nTPM
hypothalamus: 44 nTPM
basal ganglia: 42 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): 0.37
gnomAD pLI: 0.91
gnomAD missense Z: 1.7
DepMap mean gene effect: -0.04
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 B4GALT6 as an antibody target. Whether an autoantibody or antibody against B4GALT6 could matter depends on whether native B4GALT6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

B4GALT6 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 B4GALT6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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