FUOM

Summary

FUOM (fucose mutarotase, HGNC:24733) is a protein-coding gene on chromosome 10q26.3, encoding Fucose mutarotase (A2VDF0). Involved in the interconversion between alpha- and beta-L-fucoses.

Predicted to enable L-fucose mutarotase activity and fucose binding activity. Predicted to be involved in GDP-L-fucose salvage; fucose metabolic process; and fucosylation. Predicted to act upstream of or within female mating behavior and negative regulation of neuron differentiation. Predicted to be active in cytosol.

Source: NCBI Gene 282969 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 33 total
• MANE Select transcript: NM_001098483

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24733
Approved symbol	FUOM
Name	fucose mutarotase
Location	10q26.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ26016, FucU, FucM
Ensembl gene	ENSG00000148803
Ensembl biotype	protein_coding
OMIM	617725
Entrez	282969

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000278025, ENST00000368551, ENST00000368552, ENST00000447176, ENST00000465384, ENST00000478895, ENST00000850601, ENST00000863239, ENST00000863240, ENST00000863241, ENST00000863242, ENST00000916332, ENST00000916333

RefSeq mRNA: 4 — MANE Select: NM_001098483 NM_001098483, NM_001301827, NM_001301828, NM_198472

CCDS: CCDS44499, CCDS76364, CCDS7680

Canonical transcript exons

ENST00000278025 — 6 exons

Exon	Start	End
ENSE00001304268	133355158	133355436
ENSE00003569089	133356640	133356738
ENSE00003579291	133357187	133357255
ENSE00003606447	133356943	133357013
ENSE00003678039	133355738	133355811
ENSE00003769574	133357923	133358019

Expression profiles

Bgee: expression breadth ubiquitous, 183 present calls, max score 98.24.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5997 / max 193.6965, expressed in 1703 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
112126	9.2425	1683
112123	2.0015	822
112125	0.2438	65
112124	0.1118	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	98.24	gold quality
liver	UBERON:0002107	95.65	gold quality
ileal mucosa	UBERON:0000331	91.13	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.57	gold quality
duodenum	UBERON:0002114	89.44	gold quality
kidney epithelium	UBERON:0004819	88.94	silver quality
adult mammalian kidney	UBERON:0000082	88.87	gold quality
small intestine	UBERON:0002108	88.87	gold quality
cortex of kidney	UBERON:0001225	88.45	gold quality
mucosa of transverse colon	UBERON:0004991	88.42	gold quality
tibial nerve	UBERON:0001323	88.41	gold quality
granulocyte	CL:0000094	88.07	gold quality
spleen	UBERON:0002106	87.68	gold quality
monocyte	CL:0000576	87.47	gold quality
leukocyte	CL:0000738	87.25	gold quality
right atrium auricular region	UBERON:0006631	86.51	gold quality
metanephros cortex	UBERON:0010533	85.60	gold quality
cardiac atrium	UBERON:0002081	85.39	gold quality
kidney	UBERON:0002113	85.01	gold quality
left coronary artery	UBERON:0001626	84.85	gold quality
apex of heart	UBERON:0002098	84.85	gold quality
thoracic aorta	UBERON:0001515	84.10	gold quality
ascending aorta	UBERON:0001496	84.01	gold quality
coronary artery	UBERON:0001621	83.94	gold quality
descending thoracic aorta	UBERON:0002345	83.88	gold quality
lower esophagus mucosa	UBERON:0035834	83.81	gold quality
saliva-secreting gland	UBERON:0001044	83.71	gold quality
vermiform appendix	UBERON:0001154	83.64	gold quality
mucosa of stomach	UBERON:0001199	83.58	gold quality
transverse colon	UBERON:0001157	83.55	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	71.77
E-ANND-3	yes	5.02
E-MTAB-6386	no	67.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

11 targeting FUOM, 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-1250-3P	99.96	70.04	4038
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-873-3P	96.84	66.09	786
HSA-MIR-3918	96.13	64.65	1300

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fuom	ENSDARG00000039422
mus_musculus	Fuom	ENSMUSG00000025466
rattus_norvegicus	Fuom	ENSRNOG00000018476

Protein

Protein identifiers

Fucose mutarotase — A2VDF0 (reviewed: A2VDF0)

All UniProt accessions (3): A2VDF0, X6R6T9, X6RK00

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the interconversion between alpha- and beta-L-fucoses. L-Fucose (6-deoxy-L-galactose) exists as alpha-L-fucose (29.5%) and beta-L-fucose (70.5%), the beta-form is metabolized through the salvage pathway. GDP-L-fucose formed either by the de novo or salvage pathways is transported into the endoplasmic reticulum, where it serves as a substrate for N- and O-glycosylations by fucosyltransferases. Fucosylated structures expressed on cell surfaces or secreted in biological fluids are believed to play a critical role in cell-cell adhesion and recognition processes.

Subunit / interactions. Mainly homodimer, but also exists as homotetramer, homooctamer, and homodecamer. The homodimeric form seems catalytically inactive.

Pathway. Carbohydrate metabolism; L-fucose metabolism.

Similarity. Belongs to the RbsD / FucU family.

Isoforms (2)

UniProt ID	Names	Canonical?
A2VDF0-1	1	yes
A2VDF0-2	2

RefSeq proteins (4): NP_001091953, NP_001288756, NP_001288757, NP_940874 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007721	RbsD_FucU	Family
IPR023750	RbsD-like_sf	Homologous_superfamily
IPR050443	RbsD/FucU_mutarotase	Family

Pfam: PF05025

Enzyme classification (BRENDA):

• EC 5.1.3.29 — L-fucose mutarotase (BRENDA: 5 organisms, 7 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• alpha-L-fucose = beta-L-fucose (RHEA:25580)

UniProt features (12 total): binding site 5, active site 3, splice variant 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A2VDF0-F1	96.77	0.95

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 (3): 24 (proton donor); 69; 120

Ligand- & substrate-binding residues (5): 32; 79; 120; 138; 140

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6787639	GDP-fucose biosynthesis

MSigDB gene sets: 115 (showing top): GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_BEHAVIOR, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_NEUROGENESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_REPRODUCTIVE_BEHAVIOR, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_FUCOSE_METABOLIC_PROCESS

GO Biological Process (7): fucose metabolic process (GO:0006004), neuron differentiation (GO:0030182), GDP-L-fucose salvage (GO:0042352), negative regulation of neuron differentiation (GO:0045665), female mating behavior (GO:0060180), monosaccharide metabolic process (GO:0005996), obsolete fucosylation (GO:0036065)

GO Molecular Function (5): racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857), L-fucose mutarotase activity (GO:0036373), fucose binding (GO:0042806), isomerase activity (GO:0016853), monosaccharide binding (GO:0048029)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hexose metabolic process	1
cell differentiation	1
generation of neurons	1
GDP-L-fucose biosynthetic process	1
metabolic compound salvage	1
neuron differentiation	1
negative regulation of cell differentiation	1
regulation of neuron differentiation	1
mating behavior	1
carbohydrate metabolic process	1
small molecule metabolic process	1
racemase and epimerase activity	1
racemase and epimerase activity, acting on carbohydrates and derivatives	1
monosaccharide binding	1
catalytic activity	1
carbohydrate binding	1
small molecule binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUOM	DENND10	Q8TCE6	643
FUOM	GALM	Q96C23	519
FUOM	ZNF511	Q8NB15	507
FUOM	FUCA1	P04066	480
FUOM	PRAP1	Q96NZ9	480
FUOM	ENOSF1	Q7L5Y1	472
FUOM	HTATIP2	Q9BUP3	458
FUOM	XYLB	O75191	453
FUOM	SCART1	Q4G0T1	420
FUOM	CALY	Q9NYX4	392
FUOM	KRTAP11-1	Q8IUC1	384
FUOM	SIAH1	Q8IUQ4	377
FUOM	SLC35H1	Q9NQQ7	356
FUOM	KRT17	Q04695	334
FUOM	TESPA1	A2RU30	322

IntAct

7 interactions, top by confidence:

A	B	Type	Score
FUOM	EEF1A2	psi-mi:“MI:0914”(association)	0.530
TAFA3	FUOM	psi-mi:“MI:0914”(association)	0.350
FUOM	PRRC2A	psi-mi:“MI:0914”(association)	0.350
UBA52	FUOM	psi-mi:“MI:0914”(association)	0.350
NUDCD1	FUOM	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): FUOM (Affinity Capture-MS), MLLT4 (Affinity Capture-MS), EEA1 (Affinity Capture-MS), PRRC1 (Affinity Capture-MS), TOMM34 (Affinity Capture-MS), FRA10AC1 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), GPALPP1 (Affinity Capture-MS), GOLGA3 (Affinity Capture-MS), PKN1 (Affinity Capture-MS), RBM27 (Affinity Capture-MS), RNF123 (Affinity Capture-MS), DDX46 (Affinity Capture-MS), PRRC2A (Affinity Capture-MS), FUOM (Affinity Capture-MS)

ESM2 similar proteins: A1A8Z3, A1JRP2, A2VDF0, A4TNS5, A4W892, A5F769, A7FKQ0, A7MTL8, A7ZJC5, A8GB96, A9R3A9, B1JSU6, B2K8Q8, B2TUY1, B2VBT3, B4SZF9, B4TC11, B5BC59, B5F034, B5QX27, B5R6A2, B6I7Q4, B7LAF1, B7M6B3, B7MGK7, B7MPN4, C3LND6, C6DCF2, P24519, Q0P563, Q0T6Y0, Q0TJV1, Q1CAE9, Q1CFN2, Q1REI1, Q2NUL1, Q2SCM1, Q32IH8, Q4ZW81, Q57RK0

Diamond homologs: A1AEZ1, A2VDF0, A3N2Y4, A5UAS6, A5UHL6, A6TD85, A7ZQP8, A8A3T9, A8AP17, A9MSA4, A9N2J4, B0BSB3, B0US22, B1IU37, B1LQZ8, B1VU78, B1XDL3, B2TZD0, B3H2T2, B4T4X3, B4TGN5, B4TUJ9, B5BF33, B5F4S5, B5FTY3, B5QWR2, B5RDV6, B5XUY2, B5Z4C4, B6I6K2, B7LEY4, B7LXM0, B7MLC5, B7MZA0, B7N738, B7NVV2, B7UHM0, B8F6Y2, C0PXG7, C3JZP4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

956 predictions. Top by Δscore:

Variant	Effect	Δscore
10:133355810:CT:C	acceptor_gain	1.0000
10:133356934:AG:A	donor_gain	1.0000
10:133356934:AGC:A	donor_gain	1.0000
10:133356935:G:C	donor_gain	1.0000
10:133356942:CCGGA:C	donor_gain	1.0000
10:133356950:T:A	donor_gain	1.0000
10:133357009:CAGGC:C	acceptor_gain	1.0000
10:133357010:AGGC:A	acceptor_gain	1.0000
10:133357011:GGC:G	acceptor_gain	1.0000
10:133357012:GC:G	acceptor_gain	1.0000
10:133357012:GCC:G	acceptor_loss	1.0000
10:133357013:CC:C	acceptor_gain	1.0000
10:133357013:CCTGG:C	acceptor_loss	1.0000
10:133357014:C:A	acceptor_loss	1.0000
10:133357014:C:CC	acceptor_gain	1.0000
10:133357015:T:C	acceptor_loss	1.0000
10:133357918:CTCA:C	donor_loss	1.0000
10:133357920:CAC:C	donor_loss	1.0000
10:133357921:A:AC	donor_gain	1.0000
10:133357922:C:CC	donor_gain	1.0000
10:133357922:C:CT	donor_loss	1.0000
10:133357922:CCGAT:C	donor_gain	1.0000
10:133355808:CTCT:C	acceptor_gain	0.9900
10:133355812:C:CC	acceptor_gain	0.9900
10:133356634:GCTTA:G	donor_loss	0.9900
10:133356635:CTTA:C	donor_loss	0.9900
10:133356636:TTACC:T	donor_loss	0.9900
10:133356638:ACC:A	donor_loss	0.9900
10:133356735:CAGC:C	acceptor_gain	0.9900
10:133356738:CCTAG:C	acceptor_loss	0.9900

AlphaMissense

975 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:133355779:A:C	F119L	0.986
10:133355779:A:T	F119L	0.986
10:133355781:A:G	F119L	0.986
10:133357236:G:C	F35L	0.982
10:133357236:G:T	F35L	0.982
10:133357238:A:G	F35L	0.982
10:133355755:A:C	F127L	0.978
10:133355755:A:T	F127L	0.978
10:133355757:A:G	F127L	0.978
10:133355753:G:T	A128D	0.977
10:133357255:A:T	V29D	0.976
10:133355769:C:G	A123P	0.973
10:133355400:C:A	K145N	0.970
10:133355400:C:G	K145N	0.970
10:133355399:C:A	G146W	0.969
10:133355407:A:T	L143H	0.969
10:133355747:A:T	V130E	0.969
10:133355399:C:G	G146R	0.968
10:133355399:C:T	G146R	0.968
10:133355419:C:T	G139E	0.968
10:133355750:A:T	V129D	0.968
10:133355768:G:T	A123D	0.966
10:133355780:A:G	F119S	0.966
10:133357245:G:C	D32E	0.966
10:133357245:G:T	D32E	0.966
10:133357246:T:A	D32V	0.963
10:133357925:A:T	I28N	0.963
10:133355413:A:G	L141P	0.961
10:133355413:A:T	L141H	0.960
10:133355415:G:C	N140K	0.960

dbSNP variants (sampled 300 via entrez): RS1000589020 (10:133355566 C>T), RS1000958148 (10:133355309 G>A), RS1001017078 (10:133356910 A>C), RS1001713961 (10:133355037 C>T), RS1001746720 (10:133355235 C>A,G), RS1002517729 (10:133354201 T>G), RS1002592780 (10:133358034 C>A,G,T), RS1002789113 (10:133359811 G>A,T), RS1002970376 (10:133357754 A>G,T), RS1003392717 (10:133353721 G>A,T), RS1003423763 (10:133354101 G>A), RS1003794446 (10:133358518 G>A,T), RS1004068518 (10:133359189 C>T), RS1004502492 (10:133353218 G>C), RS1004533499 (10:133353434 C>T)

Disease associations

OMIM: gene MIM:617725 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007250_1	Nonunion in individuals with fractures	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009707	fractures, ununited

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	3
Arsenic	affects methylation, increases methylation	2
Aflatoxin B1	affects expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression, increases expression	1
butyraldehyde	increases expression	1
pentanal	increases expression	1
jinfukang	increases expression	1
Rosiglitazone	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Aldehydes	increases expression	1
Diazinon	increases methylation	1
Lead	affects methylation	1
N-Nitrosopyrrolidine	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Vanadates	increases expression	1
Cyclosporine	decreases expression	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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