FUT1
Galactoside alpha-(1,2)-fucosyltransferase 1
Also known as: FUT1_HUMAN, H, HSC
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P19526
- Gene
- FUT1
- Ensembl
- ENSG00000174951
- Chromosome
- 19
- Canonical length
- 365 aa
- Protein class
- Blood group antigen proteins, Enzymes, Metabolic proteins, Predicted membrane proteins
OverviewNCBI Gene
This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]
Canonical amino-acid sequenceUniProt
365 residues, UniProt reviewed canonical sequence.
>P19526|FUT1
1 MWLRSHRQLC LAFLLVCVLS VIFFLHIHQD SFPHGLGLSI LCPDRRLVTP PVAIFCLPGT
61 AMGPNASSSC PQHPASLSGT WTVYPNGRFG NQMGQYATLL ALAQLNGRRA FILPAMHAAL
121 APVFRITLPV LAPEVDSRTP WRELQLHDWM SEEYADLRDP FLKLSGFPCS WTFFHHLREQ
181 IRREFTLHDH LREEAQSVLG QLRLGRTGDR PRTFVGVHVR RGDYLQVMPQ RWKGVVGDSA
241 YLRQAMDWFR ARHEAPVFVV TSNGMEWCKE NIDTSQGDVT FAGDGQEATP WKDFALLTQC
301 NHTIMTIGTF GFWAAYLAGG DTVYLANFTL PDSEFLKIFK PEAAFLPEWV GINADLSPLW
361 TLAKPLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FUT1 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
- 32 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 32 nTPM
- stomach: 16 nTPM
- lung: 12 nTPM
- spleen: 6.2 nTPM
- cerebellum: 5.9 nTPM
- heart muscle: 4.6 nTPM
Single-cell type
- parietal cells: 51 nCPM
- mucous neck cells: 26 nCPM
- pancreatic acinar cells: 26 nCPM
- erythrocyte progenitors: 18 nCPM
- cdc: 14 nCPM
- platelets: 13 nCPM
Immune cell
- basophil: 1.3 nTPM
- neutrophil: 0.4 nTPM
- NK-cell: 0.3 nTPM
- memory B-cell: 0.2 nTPM
- naive B-cell: 0.2 nTPM
- plasmacytoid DC: 0.2 nTPM
Brain region
- cerebellum: 12 nTPM
- cerebral cortex: 8.4 nTPM
- basal ganglia: 8.2 nTPM
- amygdala: 5.5 nTPM
- hypothalamus: 5.5 nTPM
- white matter: 4.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FUT1.
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 63 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Para-Bombay phenotype
- Bombay phenotype
- BOMBAY PHENOTYPE, DIGENIC
- FUT1-related disorder
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)
- 1.34
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.6
- DepMap mean gene effect
- -0.05
- 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
- carbohydrate metabolic process
- cellular response to glucagon stimulus
- cellular response to glucose stimulus
- cellular response to low-density lipoprotein particle stimulus
- cellular response to xenobiotic stimulus
- endoplasmic reticulum unfolded protein response
- endothelial cell apoptotic process
- glycoprotein biosynthetic process
- glycosphingolipid biosynthetic process
- L-fucose catabolic process
- negative regulation of endothelial cell apoptotic process
- olfactory bulb development
- oligosaccharide biosynthetic process
- positive regulation of cell-matrix adhesion
- positive regulation of endothelial cell migration
- positive regulation of endothelial cell-matrix adhesion via fibronectin
- positive regulation of sprouting angiogenesis
- positive regulation of triglyceride catabolic process
- regulation of endothelial cell proliferation
- response to activity
- response to nutrient levels
- response to methionine
Molecular functions
- alpha-(1,2)-fucosyltransferase activity
- fucosyltransferase activity
- galactoside 2-alpha-L-fucosyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FUT1 as an antibody target. Whether an autoantibody or antibody against FUT1 could matter depends on whether native FUT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FUT1 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 FUT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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