FUT1 transfers Fuc to Type 2 chains to form H antigen-RBC

Stable Identifier
R-HSA-9033949
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

The H antigen is formed with the addition of a fucose (Fuc) sugar onto one of two precursor oligosaccharide sequences, Type 1 (RBCs) or Type 2 (secreted) chains. The FUT1 gene (aka H gene) found in hematopoietic cells produces galactoside 2-α-L-fucosyltransferase 1 (FUT1 aka α-1,2-fucosyltransferase 1) which mediates the transfer of a fucose (Fuc) sugar to the galactose (Gal) sugar of the Type 2 chain precursor Gal-β1,4-GlcNAc-β1,3-Gal-R (where R is a glycosphingolipid) to form the H antigen (Larsen et al. 1990). This is an essential step for subsequent formation of A and B antigens. Mutations that inactivate the FUT1 gene can result in the 'Bombay phenotype' where no A, B or H antigens are produced on RBCs (Koda et al 1997, Kaneko et al. 1997).

Literature References
PubMed ID Title Journal Year
2118655 Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen

Larsen, RD, Ernst, LK, Nair, RP, Lowe, JB

Proc. Natl. Acad. Sci. U.S.A. 1990
9226185 Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme

Kaneko, M, Nishihara, S, Shinya, N, Kudo, T, Iwasaki, H, Seno, T, Okubo, Y, Narimatsu, H

Blood 1997
9299444 Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system

Koda, Y, Soejima, M, Johnson, PH, Smart, E, Kimura, H

Biochem. Biophys. Res. Commun. 1997
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
fucosyltransferase activity of FUT1 [Golgi membrane]
Physical Entity
Activity
Orthologous Events
Authored
Reviewed
Created