FUT7 Gene (Fucosyltransferase 7)

Key regulator of selectin ligand synthesis and leukocyte trafficking

Gene Information Card

Symbol FUT7
Full Name Fucosyltransferase 7
Gene Type protein-coding
Chromosomal Location 9q34.3
NCBI Gene ID 2529 ncbi.nlm.nih.gov/gene/2529
Ensembl ID ENSG00000107175
UniProt ID Q11130
OMIM ID 602265
HGNC ID 4018
Aliases FucT-VII, Fucosyltransferase 7

Description

FUT7 encodes fucosyltransferase 7 (FucT-VII), a Golgi enzyme that catalyzes the transfer of fucose to sialylated lactosamine acceptors, forming sialyl Lewis X (sLe^x) and related selectin ligands. These glycans are essential for leukocyte rolling and homing to inflamed tissues. FUT7 is primarily expressed in leukocytes and is involved in immune surveillance, inflammation, and cancer metastasis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Leukocyte adhesion deficiency type II (LAD II) Loss of FUT7 function reduces selectin ligand expression, impairing neutrophil adhesion and trafficking. OMIM #266265; mutations in SLC35C1 (GDP-fucose transporter) cause LAD II with secondary FUT7 deficiency.
Rheumatoid arthritis Upregulated FUT7 in synovial T cells enhances sLe^x expression and joint infiltration. PubMed studies; increased FUT7 mRNA in RA synovial fluid.
Colorectal cancer metastasis FUT7 overexpression promotes sLe^x synthesis on tumor cells, facilitating E-selectin-mediated metastasis. COSMIC; multiple studies show correlation with poor prognosis.
Acute myeloid leukemia (AML) Aberrant FUT7 expression contributes to leukocyte adhesion and extramedullary infiltration. ClinVar; expression data from AML patient samples.

Expression Profile

Tissue Expression
Tissue nTPM level
Bone marrow 12.5 Medium
Lymph node 8.3 Low
Spleen 6.7 Low
Whole blood 4.2 Low
Lung 1.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
HL-60 (promyeloblast) 15.2 High; used as model for neutrophil differentiation
Jurkat (T-cell) 9.8 Moderate; constitutive expression
THP-1 (monocyte) 7.5 Low; inducible by TNF-α
K562 (erythroleukemia) 0.5 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Likely loss of start codon; no functional protein
c.329G>A (p.Arg110Gln) missense <0.01% Reduced enzyme activity; associated with LAD II-like phenotype
c.503C>T (p.Thr168Ile) missense <0.01% Decreased fucosylation; rare population variant
Mutation functional classification

Loss of Function (LOF)

Missense mutations (e.g., p.Arg110Gln) reduce or abolish fucosyltransferase activity, impairing selectin ligand synthesis and leukocyte adhesion.

Gain of Function (GOF)

Not reported in germline; somatic overexpression in cancers is considered a gain-of-function at the expression level.

Dominant Negative (DN)

No dominant-negative variants described.

Pathways

Selectin-mediated leukocyte adhesion (Reactome: R-HSA-202733)
Fucosylation of glycoproteins (Reactome: R-HSA-975578)
Sialyl Lewis X biosynthesis (KEGG: hsa00512)

Protein Summary

Fucosyltransferase 7 (FucT-VII) is a 342-amino acid type II transmembrane protein localized to the Golgi. It catalyzes the final step in the synthesis of sialyl Lewis X (sLe^x), a tetrasaccharide ligand for E-, P-, and L-selectins. FucT-VII is critical for leukocyte rolling and extravasation during inflammation. Its expression is tightly regulated in hematopoietic cells and is upregulated in various cancers, promoting metastasis. The protein contains a conserved fucosyltransferase catalytic domain and requires GDP-fucose as a donor substrate.

Related Products

Product name Cat.No. Species Gene ID
FUT7 Knockout HEK293 Cell Line EDJ-KQ50286 Human 2529 Details Get a Quote
FUT7 Knockout HeLa Cell Line EDJ-KQ53280 Human 2529 Details Get a Quote
FUT7 Knockout A-549 Cell Line EDJ-KQ61762 Human 2529 Details Get a Quote
FUT7 Knockout HCT 116 Cell Line EDJ-KQ70244 Human 2529 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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