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Gene Gene information from NCBI Gene database.
Entrez ID 84750
Gene name Protein O-fucosyltransferase 3
Gene symbol POFUT3
Synonyms (NCBI Gene)
FUCTXFUT10
Chromosome 8
Chromosome location 8p12
miRNA miRNA information provided by mirtarbase database.
265 Show/Hide all (265)
miRTarBase ID miRNA Experiments Reference
MIRT025374 hsa-miR-34a-5p Sequencing 20371350
MIRT051863 hsa-let-7c-5p CLASH 23622248
MIRT458299 hsa-miR-548m PAR-CLIP 23592263
MIRT458298 hsa-miR-3609 PAR-CLIP 23592263
MIRT458297 hsa-miR-548ah-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39 Show/Hide all (39)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005764 Component Lysosome IEA
GO:0005783 Component Endoplasmic reticulum IDA 39775168
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616931 19234 ENSG00000172728
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P4F1
Protein name GDP-fucose protein O-fucosyltransferase 3 (EC 2.4.1.221) (Alpha-(1,3)-fucosyltransferase 10) (EC 2.4.1.-) (Fucosyltransferase X) (Fuc-TX) (FucT-X) (Galactoside 3-L-fucosyltransferase 10) (Fucosyltransferase 10)
Protein function Protein O-fucosyltransferase that specifically catalyzes O-fucosylation of serine or threonine residues in EMI domains of target proteins, such as MMRN1, MMRN2 and EMID1 (PubMed:39775168). Attaches fucose through an O-glycosidic linkage (PubMed:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00852 Glyco_transf_10 209 → 405 Glycosyltransferase family 10 (fucosyltransferase) C-term Family
PF17039 Glyco_tran_10_N 79 → 185 Fucosyltransferase, N-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in lung, digestive tract, gall bladder, placenta, kidney, uterus and brain. Not detected in spleen, heart, muscle, liver and pancreas. {ECO:0000269|PubMed:19088067}.
Sequence
Sequence length 479
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
Lewis blood group biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Gastric cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 8981094
★★★★★
★☆☆☆☆
Found in Text Mining only
Amnesia Amnesia GWASCAT_DG 29724592
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 8542587, 9128982
★★★★★
★☆☆☆☆
Found in Text Mining only
Frontotemporal dementia Frontotemporal dementia GWASCAT_DG 29724592
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 15666088
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 8542587
★★★★★
★☆☆☆☆
Found in Text Mining only
Memory dysfunction Memory Disorders GWASCAT_DG 29724592
★★★★★
★☆☆☆☆
Found in Text Mining only