B3GALT6
Beta-1,3-galactosyltransferase 6
Also known as: B3GT6_HUMAN, beta3GalT6
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96L58
- Gene
- B3GALT6
- Ensembl
- ENSG00000176022
- Chromosome
- 1
- Canonical length
- 329 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
Canonical amino-acid sequenceUniProt
329 residues, UniProt reviewed canonical sequence.
>Q96L58|B3GALT6
1 MKLLRRAWRR RAALGLGTLA LCGAALLYLA RCAAEPGDPR AMSGRSPPPP APARAAAFLA
61 VLVASAPRAA ERRSVIRSTW LARRGAPGDV WARFAVGTAG LGAEERRALE REQARHGDLL
121 LLPALRDAYE NLTAKVLAML AWLDEHVAFE FVLKADDDSF ARLDALLAEL RAREPARRRR
181 LYWGFFSGRG RVKPGGRWRE AAWQLCDYYL PYALGGGYVL SADLVHYLRL SRDYLRAWHS
241 EDVSLGAWLA PVDVQREHDP RFDTEYRSRG CSNQYLVTHK QSLEDMLEKH ATLAREGRLC
301 KREVQLRLSY VYDWSAPPSQ CCQRREGIPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against B3GALT6 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)
- 0.3
- Highest tissue expression
- 13 nTPM
Expression across tissuesHPA
Tissue
- liver: 13 nTPM
- hippocampal formation: 12 nTPM
- cerebral cortex: 12 nTPM
- amygdala: 12 nTPM
- pancreas: 11 nTPM
- hypothalamus: 11 nTPM
Single-cell type
- alveolar cells type 1: 22 nCPM
- fallopian secretory cells: 21 nCPM
- breast myoepithelial cells: 20 nCPM
- breast secretory cells: 19 nCPM
- pancreatic duct cells: 18 nCPM
- pancreatic islet cells: 18 nCPM
Immune cell
- NK-cell: 2.9 nTPM
- MAIT T-cell: 2.8 nTPM
- naive B-cell: 2.3 nTPM
- plasmacytoid DC: 2.3 nTPM
- non-classical monocyte: 2 nTPM
- memory CD8 T-cell: 1.9 nTPM
Brain region
- medulla oblongata: 20 nTPM
- hypothalamus: 19 nTPM
- cerebral cortex: 18 nTPM
- hippocampal formation: 18 nTPM
- midbrain: 18 nTPM
- white matter: 17 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about B3GALT6.
Disease | AllUniProt
Conditions B3GALT6 is implicated in, by any mechanism.
- Ehlers-Danlos syndrome, spondylodysplastic type, 2 (EDSSPD2) MIM:615349
- Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) MIM:271640
- Al-Gazali syndrome (ALGAZ) MIM:609465
Disease | GeneticClinVar
37 pathogenic / likely-pathogenic of 413 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Ehlers-Danlos syndrome, spondylodysplastic type, 2
- Spondyloepimetaphyseal dysplasia with joint laxity
- Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
- Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures
- Al-Gazali syndrome
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)
- 1.43
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 1.26
- 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
- chondroitin sulfate proteoglycan biosynthetic process
- dermatan sulfate proteoglycan biosynthetic process
- glycosaminoglycan biosynthetic process
- glycosaminoglycan-protein linkage region biosynthetic process
- heparan sulfate proteoglycan biosynthetic process
- protein O-linked glycosylation
- proteoglycan biosynthetic process
Molecular functions
- UDP-galactosyltransferase activity
- galactosylxylosylprotein 3-beta-galactosyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads B3GALT6 as an antibody target. Whether an autoantibody or antibody against B3GALT6 could matter depends on whether native B3GALT6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
B3GALT6 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 B3GALT6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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