FUT1

Summary

FUT1 (fucosyltransferase 1 (H blood group), HGNC:4012) is a protein-coding gene on chromosome 19q13.33, encoding Galactoside alpha-(1,2)-fucosyltransferase 1 (P19526). Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose residue of glycoconjugates through an alpha(1,2) linkage leading to H antigen synthesis that is an intermediate substrate in the synthesis of ABO blood group antigens.

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.

Source: NCBI Gene 2523 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Bombay phenotype (Limited, GenCC)
• GWAS associations: 23
• Clinical variants (ClinVar): 63 total — 4 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_001384359

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4012
Approved symbol	FUT1
Name	fucosyltransferase 1 (H blood group)
Location	19q13.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000174951
Ensembl biotype	protein_coding
OMIM	211100
Entrez	2523

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding_CDS_not_defined, 3 protein_coding

ENST00000597220, ENST00000599826, ENST00000601931, ENST00000601988, ENST00000643950, ENST00000645652, ENST00000680253, ENST00000927212, ENST00000927213

RefSeq mRNA: 3 — MANE Select: NM_001384359 NM_000148, NM_001329877, NM_001384359

CCDS: CCDS12733

Canonical transcript exons

ENST00000645652 — 2 exons

Exon	Start	End
ENSE00001205542	48748011	48751283
ENSE00003830247	48752490	48752641

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 84.93.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8248 / max 37.6256, expressed in 382 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181925	0.6153	312
181926	0.1015	50
181924	0.0727	27
181927	0.0354	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	84.93	gold quality
tongue squamous epithelium	UBERON:0006919	83.36	gold quality
paraflocculus	UBERON:0005351	80.83	silver quality
upper lobe of left lung	UBERON:0008952	79.83	gold quality
frontal pole	UBERON:0002795	79.42	gold quality
body of stomach	UBERON:0001161	79.19	gold quality
upper lobe of lung	UBERON:0008948	79.04	gold quality
pancreas	UBERON:0001264	78.59	gold quality
right lung	UBERON:0002167	77.87	gold quality
middle frontal gyrus	UBERON:0002702	77.86	gold quality
buccal mucosa cell	CL:0002336	76.90	silver quality
stomach	UBERON:0000945	76.85	gold quality
palpebral conjunctiva	UBERON:0001812	75.37	gold quality
gingival epithelium	UBERON:0001949	74.83	silver quality
middle temporal gyrus	UBERON:0002771	74.06	silver quality
lung	UBERON:0002048	73.57	gold quality
cervix squamous epithelium	UBERON:0006922	73.37	gold quality
endometrium epithelium	UBERON:0004811	73.05	gold quality
squamous epithelium	UBERON:0006914	72.91	gold quality
apex of heart	UBERON:0002098	72.11	gold quality
cerebellar hemisphere	UBERON:0002245	72.11	gold quality
cerebellar cortex	UBERON:0002129	72.07	gold quality
lower lobe of lung	UBERON:0008949	71.99	gold quality
Brodmann (1909) area 10	UBERON:0013541	71.64	gold quality
cerebellum	UBERON:0002037	71.57	gold quality
right hemisphere of cerebellum	UBERON:0014890	71.52	gold quality
gingiva	UBERON:0001828	71.27	silver quality
triceps brachii	UBERON:0001509	71.06	gold quality
gluteal muscle	UBERON:0002000	71.02	gold quality
spleen	UBERON:0002106	70.72	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.86

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTNNB1, ELK1, MYC

miRNA regulators (miRDB)

109 targeting FUT1, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872

Literature-anchored findings (GeneRIF, showing 40)

• FUT1 catalyses the addition of alpha-1,2-fucose to MUC1 and MUC5AC apomucins (PMID:12652076)
• identification of an essential component of notch signaling pathways (PMID:12697902)
• Four kinds of known h alleles (h1-h4), 2 kinds of novel non-functional FUT1 alleles, a Se(w) allele, and a novel SeG716A polymorphism in Chinese para-Bombay individuals were detected. (PMID:15476160)
• A novel nonfunctional FUT1 allele C293T was identified in a person with the para-Bombay phenotype. (PMID:15847661)
• Data show that the C35T substitution of FUT1 gene is not a mutation which gives rise to a non-functional h allele responsible for para-Bombay phenotype but a single nucleotide polymorphism in Chinese population. (PMID:16331565)
• Expression of FUT1 induces changes in metastatic capacity of HT-29/M3 colon cancer cells, as a consequence of the altered expression pattern of type 2 Lewis antigens. (PMID:17459061)
• Molecular genetic analysis of FUT1 and FUT2 gene was performed for seven Chinese Han individuals serologically typed as para-Bombay. (PMID:17922418)
• Suppressing the expression of FUT1/4 by RNAi technology reduces the synthesis of LeY and inhibits cancer growth. (PMID:18023290)
• Aberrant expression of a single glycosyltransferase can profoundly affect thymopoiesis, although the relative involvement of CD45-dependent and -independent mechanisms is yet to be determined. (PMID:18155296)
• These observations point to a tumor induced transcription of endothelial FUT1 and consequently an enhanced expression of CD174 which is involved in migration and early cell-cell contacts during tumor associated angiogenesis. (PMID:18205178)
• Expression of this human enzyme on porcine chondrocytes protects them from both humoral and cellular rejection. (PMID:18374127)
• The transfection of alpha1, 2-FT gene can increase the activity of alpha1, 2-FT in the cell line RMG-I and mainly increase the expression of Lewis y antigen simultaneously. (PMID:18686606)
• The findings indicate that alpha1,2-FT have the ability to enhance the proliferation and elevate the survival rates of RMG-I cells, which can promote the genesis and development of ovarian carcinoma. (PMID:19137814)
• Multiple common and sporadic sequence variations including 14 new alleles at FUT1, FUT2, and FUT3 loci were identified. (PMID:19572973)
• Data show that si-RNA induced down-regulation of FUT1 and FUT2 reduced expression of fucosylated nucleolin glycoforms and their exposure at the cell surface. (PMID:20506485)
• In summary, two novel non-functional FUT1 alleles (FUT1 649T and FUT1 35T, 423A) were identifi ed in para-Bombay individuals (PMID:21839020)
• mutations of FUT1 gene did not affect the RNA and protein expression levels, but the enzyme activity of cells with FUT1 mutations was significantly decreased which resulted in the reduced expressin of H antigen. (PMID:21983725)
• Macrophage-derived factors including LIF might facilitate development of an implantation-receptive endometrium by regulating surface glycan structures in epithelial cells by up-regulating FUT1 and FUT2. (PMID:22053055)
• FUT1 allele 547-548delAG deletion and 658C>T missense mutation in part form the molecular basis of para-Bombay blood types. (PMID:22161108)
• anti-H could accommodate grafts through triggering apoptosis and down-regulating Fut1 expression to reduce ABH antigens (PMID:23063462)
• FUT1 mRNA expression in DLD-1 cells is transcriptionally regulated by Elk-1. (PMID:23533340)
• We show that fut1 in RA synovial fibroblasts is important in angiogenesis, leukocyte-synovial fibroblast adhesion, and synovial fibroblast proliferation (PMID:24467809)
• Three new alleles in FUT1 and FUT2 genes were identified in the study. The allelic polymorphisms of FUT1 and FUT2 in Tibetans show a population-specific manner. (PMID:24527852)
• FUT1-specific fucosidase diminishes the activation of beta1 integrin. (PMID:24593306)
• Fut1 plays an important role in regulating angiogenesis and ICAM-1 expression in inflammatory arthritis. (PMID:24665114)
• Data indicate that single nucleotide polymorphism (SNPS) in the 3’-untranslated region of the fucosyltransferase 1 (FUT1) gene and intron of the syntaxin 1B (STX1B) gene were the top hits for Kawasaki disease (KD) susceptibility. (PMID:25101798)
• FUT1 mediates c-Jun-induced cell proliferation in ovarian cancer cells.c-Jun transcriptionally modulates FUT1 expression in ovarian cancer cells. (PMID:25239830)
• Data indicate that alpha -1,2 fucosyltransferase (FUT1) 682A> G and 547_552delAG mutations do not affect the transcript efficiency, although various mutations have different impact on the enzyme’s activity. (PMID:25297588)
• data confirm the hypothesis that the h2 allele is linked to Se(357, 716), and the concurrence of unique FUT1 and FUT2 mutations is geographically specific. (PMID:25761312)
• High FUT1 expression is associated with breast cancer. (PMID:26908442)
• alpha(1,2)-fucosyltransferase activity is involved in the development of multidrug resistance of chronic myeloid leukemia cells probably through FUT1 regulated the activity of EGFR/MAPK signaling pathway and the expression of P-gp. (PMID:26986216)
• Data suggest that the identification of genes in response to alpha1,2-fucosyl transferase (FUT1) may provide a theoretical basis for the investigations of the molecular mechanism of ovarian cancer. (PMID:27240592)
• downregulation of FUT1, which leads to the perinuclear localization of LAMP-1 and 2, is correlated with increased rate of autophagic flux by decreasing mTOR signaling and increasing autolysosome formation. (PMID:27560716)
• The H blood group system is defined by a terminal fucose residue found on red blood cells and in secretions formed by the action of alpha-1,2-fucosyltransferases 1 (alpha2FucT1) and 2 (alpha2FucT2), respectively. Mutant alleles of the corresponding FUT1 and FUT2 genes result in either a H- phenotype (Bombay phenotype) or a weak H phenotype (para-Bombay). Review. (PMID:27834485)
• FUT1 mutations responsible for the H-deficient phenotype in the Polish population, including the first example of an abolished start codon. (PMID:27893357)
• Two novel FUT1 mutations have been identified in the proband’s FUT1 gene. The insertion mutation in the FUT1 that caused a shift of the open reading frame and formed a termination codon early at Amino Acid Position 334 may be the main reason for H deficiency in this case. (PMID:28026021)
• Protein O-fucosyltransferase 1 promotes trophoblast cell proliferation by activating MAPK and PI3K/Akt signaling pathways.[poFUT1] (PMID:28103512)
• In patients with hepatocellular carcinoma, Kaplan Meier survival analysis showed significantly shorter relapse-free survival for those with high expression of FUT1. (PMID:28883415)
• miR-339-5p downregulation contributes to Taxol resistance in small-cell lung cancer by targeting FUT1. (PMID:28940895)
• Results show that c-Fos binding to TPA response element of FUT1 promoter enhances the activation of FUT1 transcription by c-Jun. (PMID:29130097)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fut1	ENSMUSG00000008461
rattus_norvegicus	Fut1	ENSRNOG00000020995
caenorhabditis_elegans	B0205.4	WBGENE00015019

Paralogs (1): FUT2 (ENSG00000176920)

Protein

Protein identifiers

Galactoside alpha-(1,2)-fucosyltransferase 1 — P19526 (reviewed: P19526)

Alternative names: Alpha(1,2)FT 1, Blood group H alpha 2-fucosyltransferase, Fucosyltransferase 1, GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 1, Type 1 galactoside alpha-(1,2)-fucosyltransferase FUT1, Type 2 galactoside alpha-(1,2)-fucosyltransferase FUT1

All UniProt accessions (2): P19526, Q6IZA2

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose residue of glycoconjugates through an alpha(1,2) linkage leading to H antigen synthesis that is an intermediate substrate in the synthesis of ABO blood group antigens. H antigen is essential for maturation of the glomerular layer of the main olfactory bulb, in cell migration and early cell-cell contacts during tumor associated angiogenesis. Preferentially fucosylates soluble lactose and to a lesser extent fucosylates glycolipids gangliosides GA1 and GM1a.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Induction. Increased by TNF.

Pathway. Protein modification; protein glycosylation.

Polymorphism. Genetic variations in FUT1 define the H blood group and are responsible for the Bombay and para-Bombay phenotypes [MIM:616754]. Erythrocytes from individuals with the Bombay and para-Bombay blood group phenotypes are deficient in H antigens.

Miscellaneous. There are two genes (FUT1 and FUT2) which encode galactoside 2-L-fucosyltransferase. They are expressed in a tissue-specific manner with expression restricted to cells of mesodermal or endodermal origin respectively.

Similarity. Belongs to the glycosyltransferase 11 family.

RefSeq proteins (3): NP_000139, NP_001316806, NP_001371288* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002516	Glyco_trans_11	Family

Pfam: PF01531

Enzyme classification (BRENDA):

• EC 2.4.1.344 — type 2 galactoside alpha-(1,2)-fucosyltransferase (BRENDA: 10 organisms, 39 substrates, 29 inhibitors, 23 Km, 3 kcat entries)
• EC 2.4.1.69 — type 1 galactoside alpha-(1,2)-fucosyltransferase (BRENDA: 30 organisms, 174 substrates, 51 inhibitors, 139 Km, 17 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
GDP-L-FUCOSE	0.0011–1.54	21
GDP-BETA-L-FUCOSE	0.0073–1.997	15
GDP-BETA-L-FUCOSE	0.011–0.73	8
PHENYL-BETA-D-GALACTOSIDE	3–125	7
PHENYL BETA-D-GALACTOPYRANOSIDE	1.9–33	6
LACTOSE	2.1–8.9	6
LACTULOSE	13.26–108	6
GALBETA(1-3)GALNAC	0.28–20	5
N-ACETYL-BETA-LACTOSAMINE	1.1–14.3	5
BETA-LACTOSE	0.0478–0.55	4
GDP-FUCOSE	0.05–0.178	3
LACTO-N-BIOSE	5.6–8.3	3
LACTO-N-BIOSE I	1.4–3.5	3
LACTOSYLCERAMIDE	0.052–0.068	3
BETA-D-GALACTOSYL-(1->4)-N-ACETYL-BETA-D-GLUCOSA	5.2–20	2

Catalyzed reactions (Rhea), 6 shown:

• a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1’)-Cer(d18:1(4E)) + GDP-beta-L-fucose = alpha-L-fucosyl-(1->2)- beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + GDP + H(+) (RHEA:32175)
• a ganglioside GM1 + GDP-beta-L-fucose = a ganglioside Fuc-GM1 + GDP + H(+) (RHEA:48292)
• a neolactoside nLc4Cer(d18:1(4E)) + GDP-beta-L-fucose = a neolactoside IV(2)-alpha-Fuc-nLc4Cer(d18:1(4E)) + GDP + H(+) (RHEA:48304)
• a ganglioside GA1 + GDP-beta-L-fucose = a ganglioside Fuc-GA1 + GDP + H(+) (RHEA:48320)
• a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = an alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:50668)
• beta-D-galactosyl-(1->3)-N-acetyl-D-galactosamine + GDP-beta-L-fucose = alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->3)-N-acetyl-D-galactosamine + GDP + H(+) (RHEA:62964)

UniProt features (18 total): sequence variant 12, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P19526-F1	88.41	0.75

Functional residue map

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

Glycosylation sites (2): 65, 327

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9033807	ABO blood group biosynthesis
R-HSA-9840309	Glycosphingolipid biosynthesis

MSigDB gene sets: 251 (showing top): GOBP_CELLULAR_RESPONSE_TO_LIPOPROTEIN_PARTICLE_STIMULUS, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, GOBP_RESPONSE_TO_ACID_CHEMICAL, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GOBP_POSITIVE_REGULATION_OF_VASCULATURE_DEVELOPMENT, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, MORF_RAD51L3, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN

GO Biological Process (26): regulation of endothelial cell proliferation (GO:0001936), positive regulation of cell-matrix adhesion (GO:0001954), carbohydrate metabolic process (GO:0005975), glycosphingolipid biosynthetic process (GO:0006688), glycoprotein biosynthetic process (GO:0009101), oligosaccharide biosynthetic process (GO:0009312), positive regulation of endothelial cell migration (GO:0010595), positive regulation of triglyceride catabolic process (GO:0010898), response to activity (GO:0014823), olfactory bulb development (GO:0021772), endoplasmic reticulum unfolded protein response (GO:0030968), response to nutrient levels (GO:0031667), L-fucose catabolic process (GO:0042355), cellular response to glucose stimulus (GO:0071333), cellular response to glucagon stimulus (GO:0071377), cellular response to low-density lipoprotein particle stimulus (GO:0071404), cellular response to xenobiotic stimulus (GO:0071466), endothelial cell apoptotic process (GO:0072577), positive regulation of sprouting angiogenesis (GO:1903672), response to methionine (GO:1904640), positive regulation of endothelial cell-matrix adhesion (GO:1904906), negative regulation of endothelial cell apoptotic process (GO:2000352), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), regulation of cell adhesion (GO:0030155), obsolete fucosylation (GO:0036065)

GO Molecular Function (5): galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107), fucosyltransferase activity (GO:0008417), alpha-(1,2)-fucosyltransferase activity (GO:0031127), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (6): Golgi membrane (GO:0000139), obsolete extracellular space (GO:0005615), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020), Golgi cisterna membrane (GO:0032580)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Blood group systems biosynthesis	1
Glycosphingolipid metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
response to stimulus	2
endothelial cell proliferation	1
regulation of epithelial cell proliferation	1
regulation of cell-matrix adhesion	1
cell-matrix adhesion	1
positive regulation of cell-substrate adhesion	1
primary metabolic process	1
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
regulation of endothelial cell migration	1
positive regulation of cell migration	1
endothelial cell migration	1
regulation of triglyceride catabolic process	1
triglyceride catabolic process	1
positive regulation of lipid catabolic process	1
positive regulation of triglyceride metabolic process	1
olfactory lobe development	1
anatomical structure development	1
cellular response to unfolded protein	1
response to endoplasmic reticulum stress	1
intracellular signal transduction	1
hexose catabolic process	1
L-fucose metabolic process	1
intracellular glucose homeostasis	1
response to glucose	1
cellular response to hexose stimulus	1
response to glucagon	1
cellular response to peptide hormone stimulus	1
response to lipoprotein particle	1
cellular response to lipoprotein particle stimulus	1
response to xenobiotic stimulus	1
cellular response to chemical stimulus	1
apoptotic process	1
sprouting angiogenesis	1

Protein interactions and networks

STRING

956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUT1	FUT3	P21217	949
FUT1	FUT5	Q11128	903
FUT1	FUT6	P51993	902
FUT1	FUT4	P22083	899
FUT1	FUT8	Q9BYC5	762
FUT1	IL4I1	Q96RQ9	761
FUT1	FUT9	Q9Y231	725
FUT1	FUT7	Q11130	702
FUT1	POFUT4	Q495W5	687
FUT1	FGF21	Q9NSA1	681
FUT1	POFUT1	Q9H488	664
FUT1	POFUT2	Q9Y2G5	650
FUT1	B3GALT5	Q9Y2C3	633
FUT1	SLC35C1	Q96A29	619
FUT1	GMDS	O60547	618

IntAct

7 interactions, top by confidence:

A	B	Type	Score
FUT1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
FUT1	NDUFS4	psi-mi:“MI:0914”(association)	0.530
CSGALNACT2	TPST1	psi-mi:“MI:0914”(association)	0.530
NAT16	HSPA8	psi-mi:“MI:0914”(association)	0.350
UGT1A7	ADAM10	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): GLT8D2 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), NDUFS4 (Affinity Capture-MS), NDUFB8 (Affinity Capture-MS), NDUFB6 (Affinity Capture-MS), HTRA1 (Affinity Capture-MS), SLC9A1 (Affinity Capture-MS), GLB1L2 (Affinity Capture-MS), UGT8 (Affinity Capture-MS), NDUFB5 (Affinity Capture-MS), ND5 (Affinity Capture-MS), PIGB (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), NDUFB9 (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS)

ESM2 similar proteins: F6Q1T7, O09160, O77485, O77486, O77487, P19526, P97353, Q10979, Q10980, Q10981, Q10982, Q10983, Q10984, Q11128, Q28113, Q29043, Q505J3, Q5NDE9, Q5NDF0, Q5NDF1, Q5NDF2, Q67BJ4, Q80XH4, Q866C5, Q866C7, Q866C9, Q866D2, Q866D6, Q866D9, Q866E1, Q866E4, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q8BW41, Q8HYJ5, Q8N5D6, Q8NAT1

Diamond homologs: F6Q1T7, O09160, O77485, O77486, O77487, P19526, P97353, Q10979, Q10980, Q10981, Q10982, Q10983, Q10984, Q28113, Q29043, Q866C5, Q866C7, Q866C9, Q866D2, Q866D6, Q866D9, Q866E1, Q866E4, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q9JL27, Q9TTC7, Q9TTY3, Q9TUD4, Q9TUD6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	42
Likely benign	6
Benign	2

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
12140	NM_001384359.1(FUT1):c.491T>A (p.Leu164His)	Pathogenic
12141	NM_001384359.1(FUT1):c.826C>T (p.Gln276Ter)	Pathogenic
221680	NM_001384359.1(FUT1):c.349C>T (p.His117Tyr)	Pathogenic
3030253	NM_001384359.1(FUT1):c.881_882del (p.Phe294fs)	Pathogenic
4526453	NM_001384359.1(FUT1):c.788dup (p.Asn263fs)	Likely pathogenic

SpliceAI

616 predictions. Top by Δscore:

Variant	Effect	Δscore
19:48751279:CATGG:C	acceptor_gain	1.0000
19:48751281:TGG:T	acceptor_gain	1.0000
19:48751284:C:CC	acceptor_gain	1.0000
19:48751280:ATGG:A	acceptor_gain	0.9900
19:48751282:GG:G	acceptor_gain	0.9900
19:48751283:GC:G	acceptor_loss	0.9900
19:48751284:C:CA	acceptor_loss	0.9900
19:48751285:T:A	acceptor_loss	0.9900
19:48755288:AC:A	donor_gain	0.9900
19:48755289:CC:C	donor_gain	0.9900
19:48755333:C:A	donor_gain	0.9900
19:48753318:T:A	donor_gain	0.9800
19:48755289:CCCTT:C	donor_gain	0.9700
19:48755293:TGC:T	donor_gain	0.9700
19:48752488:AC:A	donor_gain	0.9600
19:48752489:CC:C	donor_gain	0.9600
19:48753310:TGC:T	donor_gain	0.9600
19:48751287:C:CT	acceptor_gain	0.9500
19:48752484:ACTT:A	donor_loss	0.9500
19:48752485:CTT:C	donor_loss	0.9500
19:48752486:TTA:T	donor_loss	0.9500
19:48752487:T:TG	donor_loss	0.9500
19:48752488:ACCC:A	donor_loss	0.9500
19:48752489:C:G	donor_loss	0.9500
19:48755332:T:TA	donor_gain	0.9500
19:48752488:A:AC	donor_gain	0.9400
19:48752489:C:CC	donor_gain	0.9400
19:48752483:CACTT:C	donor_loss	0.9300
19:48753444:TGTC:T	donor_gain	0.9300
19:48751288:A:T	acceptor_gain	0.9200

AlphaMissense

2379 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:48750508:G:C	F258L	0.992
19:48750508:G:T	F258L	0.992
19:48750510:A:G	F258L	0.992
19:48750345:A:G	W313R	0.991
19:48750345:A:T	W313R	0.991
19:48750496:G:C	S262R	0.989
19:48750496:G:T	S262R	0.989
19:48750498:T:G	S262R	0.989
19:48750247:G:C	F345L	0.986
19:48750247:G:T	F345L	0.986
19:48750249:A:G	F345L	0.986
19:48750503:A:T	V260D	0.985
19:48750509:A:G	F258S	0.984
19:48750352:G:C	F310L	0.983
19:48750352:G:T	F310L	0.983
19:48750354:A:G	F310L	0.983
19:48750992:G:T	A97D	0.983
19:48750237:A:G	W349R	0.982
19:48750237:A:T	W349R	0.982
19:48750371:A:T	I304N	0.982
19:48750728:A:G	F185S	0.982
19:48750632:A:T	V217D	0.981
19:48750910:G:C	F124L	0.981
19:48750910:G:T	F124L	0.981
19:48750912:A:G	F124L	0.981
19:48751013:C:T	G90D	0.981
19:48750638:A:T	V215D	0.980
19:48750996:A:C	Y96D	0.979
19:48750356:G:A	T309I	0.978
19:48750382:G:C	C300W	0.978

dbSNP variants (sampled 300 via entrez): RS1000099034 (19:48748486 T>A,C), RS1000168296 (19:48749948 G>C), RS1000302332 (19:48748251 G>A), RS1000330236 (19:48748481 C>T), RS1000350304 (19:48754323 T>C), RS1001259416 (19:48754010 C>A,T), RS1001292048 (19:48753723 G>A,T), RS1001832771 (19:48747916 C>A), RS1001923922 (19:48752148 G>T), RS1001934255 (19:48747940 ACACACACACACACAAACC>A), RS1002697956 (19:48750023 C>A,T), RS1002965832 (19:48752599 A>C,T), RS1003159434 (19:48757166 C>A,T), RS1003271853 (19:48751483 G>A), RS1003294672 (19:48751196 T>C)

Disease associations

OMIM: gene MIM:211100 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Bombay phenotype	Limited	Autosomal recessive

Mondo (1): (MONDO:0014763)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST000847_1	Retinal vascular caliber	2.000000e-25
GCST001241_6	Bipolar disorder	3.000000e-06
GCST001844_2	Dietary macronutrient intake	8.000000e-09
GCST002485_4	Elevated serum carcinoembryonic antigen levels	3.000000e-10
GCST006463_23	Urinary albumin excretion (no hypertensive medication)	1.000000e-09
GCST006586_41	Urinary albumin excretion	3.000000e-10
GCST007328_24	Alcohol consumption (drinks per week)	2.000000e-11
GCST008757_4	Alcohol consumption	3.000000e-15
GCST008759_27	Intake of total sugars	6.000000e-07
GCST008794_11	Urinary albumin-to-creatinine ratio	9.000000e-14
GCST009640_56	Urinary albumin-to-creatinine ratio	1.000000e-12
GCST010132_5	Processed meat consumption	2.000000e-11
GCST010134_4	Non-oily fish consumption	3.000000e-16
GCST010135_4	Oily fish consumption	2.000000e-16
GCST010136_42	Fruit consumption	3.000000e-10
GCST010137_4	Cooked vegetable consumption	3.000000e-09
GCST010140_48	Pork consumption	2.000000e-16
GCST010142_1	Fish- and plant-related diet	7.000000e-13
GCST010142_45	Fish- and plant-related diet	3.000000e-08
GCST010142_68	Fish- and plant-related diet	6.000000e-10
GCST010143_10	Meat-related diet	4.000000e-09
GCST010143_20	Meat-related diet	8.000000e-12
GCST011353_3	Serum alkaline phosphatase levels	4.000000e-68

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004731	eye measurement
EFO:0003939	energy intake
EFO:0005760	serum carcinoembryonic antigen measurement
EFO:0004285	albuminuria
EFO:0010158	sugar consumption measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0008111	diet measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases expression, decreases methylation, increases methylation	3
Smoke	decreases expression	2
Cyclosporine	increases expression	2
Cadmium Chloride	increases abundance, increases expression, decreases expression	2
methylmercuric chloride	increases expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
deoxynivalenol	decreases expression	1
testosterone undecanoate	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
hydroquinone	decreases expression	1
pterostilbene	increases expression	1
licochalcone B	decreases expression	1
prothioconazole	increases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Antimycin A	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, increases expression	1
Fluorouracil	affects response to substance	1
Hydrogen Peroxide	affects expression	1
Phenobarbital	increases expression	1
Rifampin	decreases expression	1
Silicon Dioxide	increases expression	1
Thimerosal	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1

Cellosaurus cell lines

4 cell lines: 3 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C0XB	BEL-A FUT1 KO	Transformed cell line	Sex unspecified
CVCL_C0XH	BEL-A 4x KO	Transformed cell line	Sex unspecified
CVCL_C0XI	BEL-A 5x KO	Transformed cell line	Sex unspecified
CVCL_IS65	RMG-I-H	Cancer cell line	Female

Clinical trials (associated diseases)

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