POFUT4
Protein O-Fucosyltransferase 4
Gene Information Card
| Symbol | POFUT4 |
|---|---|
| Full Name | Protein O-Fucosyltransferase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 285704 ncbi.nlm.nih.gov/gene/285704 |
| Ensembl ID | ENSG00000164619 |
| UniProt ID | Q8N6T3 |
| OMIM ID | 617849 |
| HGNC ID | HGNC:26924 |
| Aliases | MGC138290, MGC138291 |
Description
POFUT4 encodes a protein O-fucosyltransferase that catalyzes the transfer of fucose to serine or threonine residues on target proteins, a modification important for protein-protein interactions and signaling, particularly in the Notch pathway. The gene is located on chromosome 7q22.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 7.1 | Low |
| Prostate | 6.8 | Low |
| Lung | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.3 | Embryonic kidney |
| HeLa | 8.7 | Cervical carcinoma |
| K562 | 6.4 | Leukemia |
| A549 | 5.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Not reported in COSMIC | Likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Not reported in COSMIC | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • O-fucosyltransferase activity | • Protein glycosylation |
| • Notch signaling pathway | • Endoplasmic reticulum |
Pathways
• Notch signaling (Reactome: R-HSA-157118)
Protein Summary
POFUT4 is a 388-amino acid protein localized to the endoplasmic reticulum. It belongs to the glycosyltransferase family and adds O-fucose to epidermal growth factor-like repeats of target proteins, modulating Notch receptor activation and other signaling events.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POFUT4 Knockout HEK293 Cell Line | EDJ-KQ13533 | Human | 170384 | Details Get a Quote |
| POFUT4 Knockout A-549 Cell Line | EDJ-KQ43152 | Human | 170384 | Details Get a Quote |
| POFUT4 Knockout HCT 116 Cell Line | EDJ-KQ43153 | Human | 170384 | Details Get a Quote |
| POFUT4 Knockout HeLa Cell Line | EDJ-KQ43154 | Human | 170384 | Details Get a Quote |
