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
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
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
PF17039 Glyco_tran_10_N 79 185 Fucosyltransferase, N-terminal Domain
PF00852 Glyco_transf_10 209 405 Glycosyltransferase family 10 (fucosyltransferase) C-term Family
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
    Lewis blood group biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Uncertain significance rs370732988 RCV005932662
Melanoma Uncertain significance rs370732988 RCV005932663