POFUT3
Protein O-Fucosyltransferase 3
Gene Information Card
| Symbol | POFUT3 |
|---|---|
| Full Name | Protein O-Fucosyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q24.3 |
| NCBI Gene ID | 286451 ncbi.nlm.nih.gov/gene/286451 |
| Ensembl ID | ENSG00000110395 |
| UniProt ID | Q6P4F1 |
| OMIM ID | 615219 |
| HGNC ID | 26986 |
| Aliases | FLJ22624, O-FucT-3, FUT13 |
Description
POFUT3 encodes protein O-fucosyltransferase 3, an enzyme that catalyzes the transfer of fucose to serine or threonine residues on target proteins. It is involved in the O-fucosylation of thrombospondin type 1 repeats (TSRs) and may modulate Notch signaling and other developmental pathways. The gene is located on chromosome 11q24.3 and is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered glycosylation affecting cell adhesion and signaling | COSMIC somatic mutation data |
| Notch-related disorders | Potential modulation of Notch receptor O-fucosylation | Inferred from homology to POFUT1 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | RNA-seq |
| K562 | 7.1 | RNA-seq |
| HeLa | 6.5 | RNA-seq |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.452G>A (p.Arg151His) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003824 (GO:0003824) | • GO:0006486 (GO:0006486) |
| • GO:0005794 (GO:0005794) | • GO:0016021 (GO:0016021) |
Pathways
• Notch signaling (O-fucosylation of TSRs)
• Protein glycosylation in Golgi
Protein Summary
POFUT3 is a 388-amino acid type II transmembrane protein localized to the Golgi apparatus. It belongs to the glycosyltransferase family and specifically adds O-fucose to thrombospondin type 1 repeats. The protein contains a catalytic domain and a short N-terminal cytoplasmic tail. Its activity is essential for proper folding and function of TSR-containing proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POFUT3 Knockout HEK293 Cell Line | EDJ-KQ10189 | Human | 84750 | Details Get a Quote |
| POFUT3 Knockout HeLa Cell Line | EDJ-KQ36083 | Human | 84750 | Details Get a Quote |
| POFUT3 Knockout A-549 Cell Line | EDJ-KQ37327 | Human | 84750 | Details Get a Quote |
| POFUT3 Knockout HCT 116 Cell Line | EDJ-KQ37328 | Human | 84750 | Details Get a Quote |
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