FUT9

Summary

FUT9 (fucosyltransferase 9, HGNC:4020) is a protein-coding gene on chromosome 6q16.1, encoding 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 (Q9Y231). Catalyzes alpha(1->3) linkage of fucosyl moiety transferred from GDP-beta-L-fucose to N-acetyl glucosamine (GlcNAc) within type 2 lactosamine (LacNAc, beta-D-Gal-(1->4)-beta-D-GlcNAc-) glycan attached to glycolipids and N- or O-linked glycoproteins.

The protein encoded by this gene belongs to the glycosyltransferase family. It is localized to the golgi, and catalyzes the last step in the biosynthesis of Lewis X (LeX) antigen, the addition of a fucose to precursor polysaccharides. This protein is one of the few fucosyltransferases that synthesizes the LeX oligosaccharide (CD15) expressed in the organ buds progressing in mesenchyma during embryogenesis. It is also responsible for the expression of CD15 in mature granulocytes. A common haplotype of this gene has also been associated with susceptibility to placental malaria infection.

Source: NCBI Gene 10690 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 28 total
• Druggable target: yes
• MANE Select transcript: NM_006581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4020
Approved symbol	FUT9
Name	fucosyltransferase 9
Location	6q16.1
Locus type	gene with protein product
Status	Approved
Aliases	Fuc-TIX
Ensembl gene	ENSG00000172461
Ensembl biotype	protein_coding
OMIM	606865
Entrez	10690

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000302103, ENST00000483933, ENST00000887181, ENST00000887182, ENST00000887183, ENST00000887184, ENST00000913787

RefSeq mRNA: 1 — MANE Select: NM_006581 NM_006581

CCDS: CCDS5033

Canonical transcript exons

ENST00000302103 — 3 exons

Exon	Start	End
ENSE00001177213	96114039	96114127
ENSE00001836021	96203148	96215612
ENSE00003842065	96015974	96016212

Expression profiles

Bgee: expression breadth ubiquitous, 127 present calls, max score 98.16.

FANTOM5 (CAGE): breadth broad, TPM avg 8.8816 / max 505.6449, expressed in 389 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68931	8.8539	389
68934	0.0277	11

Top tissues by expression

275 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pylorus	UBERON:0001166	98.16	gold quality
cerebellar vermis	UBERON:0004720	97.82	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.78	gold quality
endothelial cell	CL:0000115	97.28	gold quality
orbitofrontal cortex	UBERON:0004167	96.96	gold quality
postcentral gyrus	UBERON:0002581	96.78	gold quality
parietal lobe	UBERON:0001872	96.61	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.53	gold quality
middle temporal gyrus	UBERON:0002771	95.90	gold quality
entorhinal cortex	UBERON:0002728	95.80	gold quality
substantia nigra pars reticulata	UBERON:0001966	95.72	gold quality
substantia nigra pars compacta	UBERON:0001965	95.59	gold quality
CA1 field of hippocampus	UBERON:0003881	95.32	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.32	gold quality
superior frontal gyrus	UBERON:0002661	95.11	gold quality
ventral tegmental area	UBERON:0002691	94.77	gold quality
frontal pole	UBERON:0002795	94.75	gold quality
paraflocculus	UBERON:0005351	94.71	gold quality
superior vestibular nucleus	UBERON:0007227	94.65	gold quality
lateral globus pallidus	UBERON:0002476	94.25	gold quality
medulla oblongata	UBERON:0001896	93.63	gold quality
dorsal plus ventral thalamus	UBERON:0001897	93.54	gold quality
subthalamic nucleus	UBERON:0001906	93.09	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	92.87	gold quality
corpus callosum	UBERON:0002336	92.09	gold quality
middle frontal gyrus	UBERON:0002702	91.77	gold quality
pons	UBERON:0000988	91.42	gold quality
occipital lobe	UBERON:0002021	91.36	gold quality
ganglionic eminence	UBERON:0004023	90.85	gold quality
ventricular zone	UBERON:0003053	90.55	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	66.14
E-ANND-3	yes	5.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PAX6

miRNA regulators (miRDB)

622 targeting FUT9, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-LET-7A-3P	100.00	74.03	3932
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-6856-5P	100.00	65.47	1298

Literature-anchored findings (GeneRIF, showing 9)

• Fuc-TIX: a versatile alpha1,3-fucosyltransferase with a distinct acceptor- and site-specificity profile (PMID:12107078)
• FUTIX plays a key role in the synthesis of Lex groups of CEACAM1 (PMID:16282604)
• FUT9 was found to be a trans-Golgi and trans-Golgi network (TGN) glycosyltransferase from confocal immunofluorescence co-localization with the markers of the secretory pathway beta4-galactosyltransferase (trans-Golgi and TGN) and TGN-46 (TGN) (PMID:18395013)
• A single nucleotide polymorphism in FUT9, rs3811070, was significantly associated with placental malaria infection. (PMID:19460885)
• Downregulation of fucosyltransferase 9 leads to decreased Lewis(x) levels and impaired neurite outgrowth. (PMID:23000574)
• FUT9 plays a significant role during human, but not mouse, E-selectin-mediated cell adhesion. (PMID:23192350)
• N-glycosylation of human alpha1,3-fucosyltransferase IX is required for enzyme stability and activity. (PMID:23263199)
• FUT9 silencing decreases the expression of the colorectal cancer TIC marker CD44 and the level of the OCT4 transcription factor, which is known to support cancer stemness. (PMID:29196508)
• ELF4 contributes to esophageal squamous cell carcinoma growth and metastasis by augmenting cancer stemness via FUT9. (PMID:37674363)

Cross-species orthologs

21 orthologs

Organism	Symbol	Gene ID
danio_rerio	fut9a	ENSDARG00000016460
danio_rerio	FUT9	ENSDARG00000042643
danio_rerio	ft1	ENSDARG00000059056
danio_rerio	FUT9	ENSDARG00000070979
danio_rerio	FUT9	ENSDARG00000074362
danio_rerio	ft2	ENSDARG00000109567
mus_musculus	Fut9	ENSMUSG00000055373
rattus_norvegicus	Fut9	ENSRNOG00000070149
drosophila_melanogaster	FucTD	FBGN0035217
caenorhabditis_elegans		WBGENE00001505
caenorhabditis_elegans		WBGENE00001507
caenorhabditis_elegans		WBGENE00004010
caenorhabditis_elegans		WBGENE00006402
caenorhabditis_elegans		WBGENE00007211
caenorhabditis_elegans		WBGENE00012922
caenorhabditis_elegans		WBGENE00016163
caenorhabditis_elegans		WBGENE00017343
caenorhabditis_elegans		WBGENE00043986
caenorhabditis_elegans		WBGENE00044383
caenorhabditis_elegans		WBGENE00194870
caenorhabditis_elegans		WBGENE00206359

Paralogs (7): FUT5 (ENSG00000130383), FUT6 (ENSG00000156413), FUT3 (ENSG00000171124), FUT10 (ENSG00000172728), FUT7 (ENSG00000180549), FUT4 (ENSG00000196371), FUT11 (ENSG00000196968)

Protein

Protein identifiers

4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 — Q9Y231 (reviewed: Q9Y231)

Alternative names: Fucosyltransferase 9, Fucosyltransferase IX, Galactoside 3-L-fucosyltransferase

All UniProt accessions (1): Q9Y231

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes alpha(1->3) linkage of fucosyl moiety transferred from GDP-beta-L-fucose to N-acetyl glucosamine (GlcNAc) within type 2 lactosamine (LacNAc, beta-D-Gal-(1->4)-beta-D-GlcNAc-) glycan attached to glycolipids and N- or O-linked glycoproteins. Fucosylates distal type 2 LacNAc and its fucosylated (H-type 2 LacNAc) and sialylated (sialyl-type 2 LacNAc) derivatives to form Lewis x (Lex) (CD15) and Lewis y (Ley) antigenic epitopes involved in cell adhesion and differentiation. Generates Lex epitopes in the brain, presumably playing a role in the maintenance of neuronal stemness and neurite outgrowth in progenitor neural cells. Fucosylates the internal type 2 LacNAc unit of the polylactosamine chain to form VIM-2 antigen that serves as recognition epitope for SELE. Can also modify milk oligosaccharides, in particular type 2 tetrasaccharide LNnT.

Subunit / interactions. Homodimer.

Subcellular location. Golgi apparatus. trans-Golgi network membrane. Golgi apparatus membrane.

Tissue specificity. Strongly expressed in forebrain and stomach, lower expression in spleen and peripheral blood leukocytes, and no expression in small intestine, colon, liver, lung, kidney, adrenal cortex or uterus. Highly expressed in granulocytes. Not expressed in monocytes.

Post-translational modifications. N-glycosylated with complex-type N-glycans. The glycan alpha-D-Man-(1->3)-beta-D-Man-(1->4)-GlcNAc-(1->4)-GlcNAc is attached at Asn-153.

Activity regulation. Activated by Mn2+.

Domain organisation. The donor-binding domain adopts a Rossman-like fold involved in GDP-beta-L-fucose sugar donor interactions. The acceptor-binding domain adopts a Rossman-like fold consisting of six-stranded parallel beta sheets characteristic of the Toll/interleukin-1 receptor (TIR) fold family. Interacts with the LacNAc unit of type 2 LacNAc and H-type 2 LacNAc structures. It contains the catalytic base Glu-137 which deprotonates the hydroxyl group of GlcNAc while forming bridging interactions with the donor sugar to position the catalytic machinery in the active site.

Pathway. Protein modification; protein glycosylation. Glycolipid biosynthesis.

Similarity. Belongs to the glycosyltransferase 10 family.

RefSeq proteins (1): NP_006572* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001503	Glyco_trans_10	Family
IPR031481	Glyco_tran_10_N	Domain
IPR038577	GT10-like_C_sf	Homologous_superfamily
IPR055270	Glyco_tran_10_C	Domain

Pfam: PF00852, PF17039

Enzyme classification (BRENDA):

• EC 2.4.1.152 — 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase (BRENDA: 24 organisms, 171 substrates, 55 inhibitors, 103 Km, 24 kcat entries)

Substrate kinetics (BRENDA)

50 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GDP-BETA-L-FUCOSE	0.0001–1.12	18
N-ACETYLLACTOSAMINE	0.0026–0.61	9
D-LACTOSE	72–543	6
GDP-FUCOSE	0.0016–0.06	5
GDP-L-FUCOSE	0.0055–0.062	5
FUCALPHA(1,2)GALBETA(1,4)GLCNAC	0.7–3.9	4
GALBETA1,4GLCNAC-O(CH2)8CO2CH3	0.37–1.7	4
GALBETA(1,4)GLCNAC	1.4–23	3
GDP-BETA-FUCOSE	0.021–6.448	3
FUCALPHA(1,2)GALBETA(1,4)GLC	6.7–20	2
LACTO-N-NEOTETRAOSE	0.3–0.76	2
LACTOSE	3.729–83	2
NEUACALPHA(2,3)GALBETA(1,4)GLCNAC	0.2–0.9	2
3’-SIALYL N-ACETYL LACTOSAMINE	0.65	1
6-DEOXY-6-N-(2-NAPHTHALENE-2-YL-ACETAMIDE)-BETA-	0.0009	1

Catalyzed reactions (Rhea), 8 shown:

• a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = a beta-D-galactosyl-(1->4)-[alpha-L-fucosyl-(1->3)]-N-acetyl-beta-D-glucosaminyl derivative + GDP + H(+) (RHEA:14257)
• a neolactoside nLc4Cer + GDP-beta-L-fucose = a neolactoside III(3)-alpha-Fuc-nLc4Cer + GDP + H(+) (RHEA:48376)
• alpha-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-ceramide + GDP-beta-L-fucose = a neolactoside IV(3)-alpha-Gal,III(3)-alpha-Fuc-nLc4Cer + GDP + H(+) (RHEA:48380)
• alpha-N-glycoloylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-ceramide + GDP-beta-L-fucose = alpha-N-glycoloylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-[alpha-L-fucosyl-(1->3)]-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-ceramide + GDP + H(+) (RHEA:48388)
• an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:56076)
• an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc derivative + GDP-beta-L-fucose = an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:68044)
• beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-D-Glc + GDP-beta-L-fucose = beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-D-Glc + GDP + H(+) (RHEA:77187)
• an alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-beta-D-GlcNAc derivative + GDP-beta-L-fucose = an alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:77191)

UniProt features (94 total): mutagenesis site 32, helix 17, binding site 14, strand 13, glycosylation site 3, disulfide bond 3, region of interest 3, topological domain 2, sequence variant 2, turn 2, chain 1, transmembrane region 1, active site 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
8D0P	X-RAY DIFFRACTION	1.09
8D0U	X-RAY DIFFRACTION	1.29
8D0X	X-RAY DIFFRACTION	1.33
8D0W	X-RAY DIFFRACTION	1.33
8D0S	X-RAY DIFFRACTION	1.37
8D0Q	X-RAY DIFFRACTION	1.39
8D0R	X-RAY DIFFRACTION	1.4
8D0O	X-RAY DIFFRACTION	2.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y231-F1	90.72	0.83

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 137 (nucleophile)

Ligand- & substrate-binding residues (14): 137; 168; 192; 194; 195; 202; 226; 241; 246; 252; 255; 256 …

Disulfide bonds (3): 82–335, 91–338, 190–238

Glycosylation sites (3): 62, 101, 153

Mutagenesis-validated functional residues (32):

Position	Phenotype
2–9	does not affect glycosylation. does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l-fucosyltransferase activity.
2–5	does not affect glycosylation. does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l-fucosyltransferase activity.
3	does not affect glycosylation; when associated with a-5. does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l-fu
5	does not affect glycosylation; when associated with a-3. does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l-fu
62	weakly decreases alpha 1,3-fucosyltransferase activity. almost complete loss of alpha 1,3-fucosyltransferase activity; w
73	complete loss of alpha 1,3-fucosyltransferase activity toward lnnt and h-type 2 lacnac.
75	decreases catalytic efficiency toward lnnt, h-type 2 lacnac and type 2 lacnac by 35-fold, 68-fold and 69-fold, respectiv
101	significantly decreases alpha 1,3-fucosyltransferase activity. almost complete loss of alpha 1,3-fucosyltransferase acti
111	decreases catalytic efficiency toward lnnt and h-type 2 lacnac by 10-fold and 27-fold, respectively.
111	decreases catalytic efficiency toward lnnt and h-type 2 lacnac by 93-fold and 89-fold, respectively.
137	decreases catalytic efficiency toward gdp-beta-l-fucose, lnnt and h-type 2 lacnac by 1180-fold, 2400-fold and 2870-fold,
137	complete loss of alpha 1,3-fucosyltransferase activity toward lnnt and h-type 2 lacnac.
141	decreases catalytic efficiency toward lnnt and h-type 2 lacnac by 57-fold and 97-fold, respectively.
141	decreases catalytic efficiency toward lnnt and h-type 2 lacnac by 5-fold and 8-fold, respectively.
153	almost complete loss of alpha 1,3-fucosyltransferase activity. almost complete loss of alpha 1,3-fucosyltransferase acti
194	decreases catalytic efficiency toward gdp-beta-l-fucose, lnnt and h-type 2 lacnac by 2180-fold, 296-fold and 458-fold, r
195	decreases catalytic efficiency toward gdp-beta-l-fucose, lnnt and h-type 2 lacnac by 82-fold, 52-fold and 123-fold, resp
197	decreases catalytic efficiency toward gdp-beta-l-fucose, lnnt and h-type 2 lacnac by 179-fold, 18-fold and 47-fold, resp
200	decreases catalytic efficiency toward h-type 2 lacnac by 2-fold. decreases catalytic efficiency toward gdp-beta-l-fucose
202	complete loss of alpha 1,3-fucosyltransferase activity toward lnnt and h-type 2 lacnac.
228	decreases catalytic efficiency toward gdp-beta-l-fucose, lnnt and h-type 2 lacnac by 39-fold, 9-fold and 25-fold, respec
228	decreases catalytic efficiency toward gdp-beta-l-fucose, lnnt and h-type 2 lacnac by 19-fold, 3-fold and 19-fold, respec
241	decreases expression.
246	decreases catalytic efficiency toward gdp-beta-l-fucose, lnnt and h-type 2 lacnac by 70-fold, 30-fold and 109-fold, resp
252	decreases expression.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9037629	Lewis blood group biosynthesis

MSigDB gene sets: 345 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_N_GLYCAN_PROCESSING, LEE_NEURAL_CREST_STEM_CELL_DN, BENPORATH_ES_WITH_H3K27ME3, GOBP_POLYSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOZGIT_ESR1_TARGETS_DN, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MODULE_59, GOBP_CELL_CELL_ADHESION, GOBP_STEM_CELL_DIVISION

GO Biological Process (20): polysaccharide biosynthetic process (GO:0000271), carbohydrate metabolic process (GO:0005975), protein N-linked glycosylation (GO:0006487), N-glycan processing (GO:0006491), protein O-linked glycosylation (GO:0006493), glycosphingolipid biosynthetic process (GO:0006688), glycoprotein biosynthetic process (GO:0009101), oligosaccharide biosynthetic process (GO:0009312), positive regulation of neuron projection development (GO:0010976), neuron differentiation (GO:0030182), neuronal stem cell division (GO:0036445), L-fucose catabolic process (GO:0042355), Lewis x epitope biosynthetic process (GO:0106402), regulation of leukocyte cell-cell adhesion (GO:1903037), regulation of leukocyte tethering or rolling (GO:1903236), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665), obsolete fucosylation (GO:0036065), obsolete N-glycan fucosylation (GO:0036071)

GO Molecular Function (7): fucosyltransferase activity (GO:0008417), 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity (GO:0017083), protein homodimerization activity (GO:0042803), alpha-(1->3)-fucosyltransferase activity (GO:0046920), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), trans-Golgi network (GO:0005802), trans-Golgi network membrane (GO:0032588), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Blood group systems biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	3
macromolecule biosynthetic process	2
carbohydrate biosynthetic process	2
primary metabolic process	2
carbohydrate derivative biosynthetic process	2
polysaccharide metabolic process	1
protein N-linked glycosylation	1
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
glycoprotein metabolic process	1
oligosaccharide metabolic process	1
regulation of neuron projection development	1
neuron projection development	1
positive regulation of cell projection organization	1
cell differentiation	1
generation of neurons	1
somatic stem cell division	1
hexose catabolic process	1
L-fucose metabolic process	1
leukocyte cell-cell adhesion	1
regulation of cell-cell adhesion	1
regulation of cellular extravasation	1
leukocyte tethering or rolling	1
regulation of leukocyte adhesion to vascular endothelial cell	1
lipid metabolic process	1
hexosyltransferase activity	1
alpha-(1->3)-fucosyltransferase activity	1
identical protein binding	1
protein dimerization activity	1
fucosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
Golgi apparatus subcompartment	1

Protein interactions and networks

STRING

854 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUT9	FUT1	P19526	725
FUT9	FUT8	Q9BYC5	721
FUT9	FUT2	Q10981	611
FUT9	ST3GAL4	Q11206	565
FUT9	POFUT2	Q9Y2G5	563
FUT9	GYPE	P15421	555
FUT9	TIMD4	Q96H15	549
FUT9	SLC35C1	Q96A29	545
FUT9	POFUT1	Q9H488	524
FUT9	GYPB	P06028	520
FUT9	GYPA	P02724	502
FUT9	ST6GAL1	P15907	496
FUT9	HAVCR1	Q96D42	495
FUT9	ST3GAL3	Q11203	493
FUT9	HAVCR2	Q8TDQ0	493

IntAct

14 interactions, top by confidence:

A	B	Type	Score
FUT9	CLRN1	psi-mi:“MI:0915”(physical association)	0.560
FUT9	GOLM1	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	FUT9	psi-mi:“MI:0915”(physical association)	0.560
CLRN1	FUT9	psi-mi:“MI:0915”(physical association)	0.560
GOLM1	FUT9	psi-mi:“MI:0915”(physical association)	0.560
FUT9	FKBP14	psi-mi:“MI:0915”(physical association)	0.560
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
TSSK3	FUT9	psi-mi:“MI:0915”(physical association)	0.370
ZDHHC17	FUT9	psi-mi:“MI:0915”(physical association)	0.370
FUT9	CANX	psi-mi:“MI:0914”(association)	0.350
FUT9	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): FUT9 (Two-hybrid), OS9 (Affinity Capture-MS), CD58 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), LMF1 (Affinity Capture-MS), PVRL2 (Affinity Capture-MS), FKBP14 (Affinity Capture-MS), CANX (Affinity Capture-MS), FUT9 (Two-hybrid), FUT9 (Two-hybrid), FUT9 (Two-hybrid), FKBP14 (Affinity Capture-MS), FUT9 (Affinity Capture-MS), FUT9 (Affinity Capture-MS), TSSK3 (Two-hybrid)

ESM2 similar proteins: A0NDG6, A9RGD8, B0X1Q4, G3V9D0, G5EDR5, G5EFP5, O48842, O48843, O88819, P83088, Q08C60, Q14BT6, Q16QY8, Q29AU6, Q33AH8, Q3V5L5, Q4V398, Q5E9Q1, Q5F2L2, Q5F2N2, Q5F2N3, Q659L0, Q659L1, Q6A1G2, Q6A1G3, Q6DBG8, Q6E279, Q6H4N0, Q6NQ51, Q6NTZ6, Q70AG8, Q765H6, Q7XLG3, Q8AWB5, Q8BYB9, Q8HZR2, Q8NBL1, Q8S1X7, Q8S1X8, Q8S1X9

Diamond homologs: G3MZR2, G5EDR5, O19058, O88819, P21217, P22083, P51993, P56433, P56434, P83088, Q11126, Q11127, Q11128, Q11130, Q11131, Q62994, Q659K9, Q659L0, Q659L1, Q712G6, Q8HYJ3, Q8HYJ4, Q8HYJ5, Q8HYJ6, Q8HYJ7, Q8HZR2, Q8HZR3, Q99JB3, Q9FX97, Q9GKU6, Q9JIG1, Q9LJK1, Q9VUL9, Q9Y231, G5EE06, G5EEE1, Q5F2L1, Q5F2N2, Q5F2N3, Q68FV3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

28 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1621 predictions. Top by Δscore:

Variant	Effect	Δscore
6:96036764:A:T	donor_gain	1.0000
6:96114128:G:GG	donor_gain	1.0000
6:96016208:GACCG:G	donor_gain	0.9900
6:96016209:ACCG:A	donor_gain	0.9900
6:96016210:CCG:C	donor_gain	0.9900
6:96016210:CCGGT:C	donor_loss	0.9900
6:96016213:G:A	donor_loss	0.9900
6:96016213:G:GG	donor_gain	0.9900
6:96016214:T:G	donor_loss	0.9900
6:96036763:G:GT	donor_gain	0.9900
6:96114123:ATATT:A	donor_gain	0.9900
6:96114124:TATT:T	donor_gain	0.9900
6:96114126:TT:T	donor_gain	0.9900
6:96016211:CG:C	donor_gain	0.9800
6:96016212:GG:G	donor_gain	0.9800
6:96114035:TCAGA:T	acceptor_gain	0.9800
6:96114125:ATT:A	donor_gain	0.9800
6:96158268:T:G	acceptor_gain	0.9800
6:96016216:A:AG	donor_gain	0.9700
6:96016217:G:GG	donor_gain	0.9700
6:96114035:TCA:T	acceptor_loss	0.9700
6:96204065:G:GT	donor_gain	0.9700
6:96017881:A:T	donor_gain	0.9600
6:96063412:G:GT	donor_gain	0.9600
6:96114124:TATTG:T	donor_loss	0.9600
6:96114126:TTG:T	donor_loss	0.9600
6:96114127:TG:T	donor_loss	0.9600
6:96114128:G:GA	donor_loss	0.9600
6:96114129:TAAGT:T	donor_loss	0.9600
6:96114130:AAGT:A	donor_loss	0.9600

AlphaMissense

2396 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:96203726:T:A	W191R	1.000
6:96203726:T:C	W191R	1.000
6:96203889:A:T	E245V	1.000
6:96203893:T:A	N246K	1.000
6:96203893:T:G	N246K	1.000
6:96203894:T:C	S247P	1.000
6:96203355:T:C	L67P	0.999
6:96203426:T:A	C91S	0.999
6:96203427:G:C	C91S	0.999
6:96203472:T:A	V106D	0.999
6:96203546:T:A	W131R	0.999
6:96203546:T:C	W131R	0.999
6:96203548:G:C	W131C	0.999
6:96203548:G:T	W131C	0.999
6:96203552:T:A	W133R	0.999
6:96203552:T:C	W133R	0.999
6:96203565:A:T	E137V	0.999
6:96203566:A:C	E137D	0.999
6:96203566:A:T	E137D	0.999
6:96203631:G:C	R159P	0.999
6:96203723:T:C	C190R	0.999
6:96203724:G:A	C190Y	0.999
6:96203725:C:G	C190W	0.999
6:96203760:G:C	R202T	0.999
6:96203761:A:C	R202S	0.999
6:96203761:A:T	R202S	0.999
6:96203781:T:C	L209P	0.999
6:96203810:G:T	G219W	0.999
6:96203811:G:A	G219E	0.999
6:96203867:T:C	C238R	0.999

dbSNP variants (sampled 300 via entrez): RS1000009473 (6:96051153 C>A,G), RS1000048345 (6:96139240 G>A), RS1000050277 (6:96146557 A>G), RS1000053107 (6:96140178 G>T), RS1000078213 (6:96098987 G>A), RS1000091030 (6:96179458 G>A,C), RS1000099140 (6:96180031 T>A), RS1000101632 (6:96058079 G>A,C,T), RS1000140791 (6:96199135 T>C), RS1000144845 (6:96097489 T>C), RS1000158510 (6:96181031 A>G), RS1000191807 (6:96081672 G>T), RS1000194682 (6:96114493 A>C), RS1000198642 (6:96032700 C>G), RS1000210458 (6:96015759 G>A,C)

Disease associations

OMIM: gene MIM:606865 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST002539_65	Schizophrenia	2.000000e-09
GCST003542_89	Night sleep phenotypes	1.000000e-06
GCST003542_90	Night sleep phenotypes	6.000000e-08
GCST003720_16	Migraine	6.000000e-10
GCST003720_22	Migraine	2.000000e-27
GCST004703_13	Obsessive-compulsive disorder or autism spectrum disorder	9.000000e-06
GCST006803_44	Schizophrenia	1.000000e-06
GCST007095_111	Systolic blood pressure	3.000000e-08
GCST007095_112	Systolic blood pressure	5.000000e-07
GCST007096_241	Pulse pressure	4.000000e-07
GCST007098_13	Diastolic blood pressure	9.000000e-06
GCST007098_14	Diastolic blood pressure	1.000000e-06
GCST007099_178	Systolic blood pressure	5.000000e-10
GCST007239_12	Ovarian cancer	8.000000e-06
GCST008595_175	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	4.000000e-09
GCST008758_35	Pre-treatment viral load in HIV-1 infection	2.000000e-17
GCST009702_3	Body mass index	3.000000e-06
GCST90011899_25	Aspartate aminotransferase levels	3.000000e-09

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006336	diastolic blood pressure
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0010125	viral load
EFO:0004340	body mass index
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4985 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression, increases expression	3
Estradiol	affects cotreatment, increases expression, decreases expression	3
Valproic Acid	decreases expression, increases expression	3
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
mono-(2-ethylhexyl)phthalate	decreases methylation, increases abundance	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
belinostat	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Diethylhexyl Phthalate	decreases methylation, increases abundance	1
Lead	affects expression	1
Tamoxifen	affects cotreatment, increases expression	1
Tetrachlorodibenzodioxin	increases expression, affects cotreatment	1
Tretinoin	decreases expression	1
Zinc	decreases expression	1
Aflatoxin B1	decreases methylation	1
Raloxifene Hydrochloride	affects cotreatment, increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3390549	Binding	Inhibition of human recombinant alpha1,3-fucosyltransferase 9 using GDP-[14C]-fucose preincubated for 30 mins by liquid scintillation counting	Synthesis and analysis of potential α1,3-fucosyltransferase inhibitors. — Bioorg Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.