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

Stable Identifier
Reaction [transition]
Homo sapiens
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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
9226185 Wide variety of point mutations in the H gene of Bombay and para-Bombay individuals that inactivate H enzyme

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

Blood 1997
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, Lowe, JB, Ernst, LK, Nair, RP

Proc. Natl. Acad. Sci. U.S.A. 1990
9299444 Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system

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

Biochem. Biophys. Res. Commun. 1997
Catalyst Activity

fucosyltransferase activity of FUT1 [Golgi membrane]

Orthologous Events
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