GBGT1
Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Also known as: A3GALNT, FS, GBGT1_HUMAN, MGC44848, UDP-GalNAc
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8N5D6
- Gene
- GBGT1
- Ensembl
- ENSG00000148288
- Chromosome
- 9
- Canonical length
- 347 aa
- Protein class
- Metabolic proteins, Predicted intracellular proteins
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for the binding of pathogens to cells; expression of this protein may determine host tropism to microorganisms. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Canonical amino-acid sequenceUniProt
347 residues, UniProt reviewed canonical sequence.
>Q8N5D6|GBGT1
1 MHRRRLALGL GFCLLAGTSL SVLWVYLENW LPVSYVPYYL PCPEIFNMKL HYKREKPLQP
61 VVWSQYPQPK LLEHRPTQLL TLTPWLAPIV SEGTFNPELL QHIYQPLNLT IGVTVFAVGK
121 YTHFIQSFLE SAEEFFMRGY RVHYYIFTDN PAAVPGVPLG PHRLLSSIPI QGHSHWEETS
181 MRRMETISQH IAKRAHREVD YLFCLDVDMV FRNPWGPETL GDLVAAIHPS YYAVPRQQFP
241 YERRRVSTAF VADSEGDFYY GGAVFGGQVA RVYEFTRGCH MAILADKANG IMAAWREESH
301 LNRHFISNKP SKVLSPEYLW DDRKPQPPSL KLIRFSTLDK DISCLRSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GBGT1 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
- 24 nTPM
Expression across tissuesHPA
Tissue
- stomach: 24 nTPM
- choroid plexus: 17 nTPM
- ovary: 13 nTPM
- placenta: 12 nTPM
- adrenal gland: 12 nTPM
- adipose tissue: 11 nTPM
Single-cell type
- microglia: 16 nCPM
- choroid plexus epithelial cells: 7.6 nCPM
- astrocytes: 5.1 nCPM
- other brain neurons: 4 nCPM
- bergmann glia: 3.9 nCPM
- brain excitatory neurons: 3.2 nCPM
Immune cell
- classical monocyte: 11 nTPM
- intermediate monocyte: 7.2 nTPM
- non-classical monocyte: 6.4 nTPM
- basophil: 6.3 nTPM
- eosinophil: 5.2 nTPM
- myeloid DC: 3 nTPM
Brain region
- pons: 31 nTPM
- choroid plexus: 28 nTPM
- cerebellum: 27 nTPM
- midbrain: 27 nTPM
- thalamus: 27 nTPM
- medulla oblongata: 24 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)
- 1.59
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.04
- DepMap mean gene effect
- -0.12
- 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
- metal ion binding
- globoside alpha-N-acetylgalactosaminyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GBGT1 as an antibody target. Whether an autoantibody or antibody against GBGT1 could matter depends on whether native GBGT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GBGT1 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 GBGT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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