POFUT1
Protein O-Fucosyltransferase 1
Gene Information Card
| Symbol | POFUT1 |
|---|---|
| Full Name | Protein O-Fucosyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 23509 ncbi.nlm.nih.gov/gene/23509 |
| Ensembl ID | ENSG00000101346 |
| UniProt ID | Q9H488 |
| OMIM ID | 607491 |
| HGNC ID | 17988 |
| Aliases | FUT12, O-FucT-1, O-Fucosyltransferase 1 |
Description
POFUT1 encodes protein O-fucosyltransferase 1, an enzyme that catalyzes the addition of fucose to serine or threonine residues in epidermal growth factor (EGF)-like repeats of proteins, including Notch receptors. This modification is essential for proper Notch signaling, which regulates cell differentiation, proliferation, and development. Mutations in POFUT1 are associated with Dowling-Degos disease and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dowling-Degos disease | Loss-of-function mutations impair Notch signaling in skin, leading to reticulate pigmentation and follicular abnormalities. | ClinVar, OMIM |
| Colorectal cancer | Altered POFUT1 expression may affect Notch pathway activity, contributing to tumor progression. | COSMIC, NCBI Gene |
| Hepatocellular carcinoma | Upregulation of POFUT1 associated with poor prognosis and enhanced Notch signaling. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Liver | 8.3 | Low |
| Colon | 15.2 | Medium |
| Lung | 6.7 | Low |
| Brain | 4.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| HepG2 | 9.8 | Low expression |
| A549 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.430C>T (p.Arg144*) | Nonsense | Rare | Loss of function; truncates protein, abolishing enzymatic activity |
| c.491G>A (p.Arg164Gln) | Missense | Rare | Likely loss of function; reduces catalytic activity |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; prevents translation initiation |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations in Dowling-Degos disease are loss-of-function, leading to reduced Notch signaling.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may act as a gain-of-function.
Dominant Negative (DN)
Not established for POFUT1.
View complete mutation data：
Gene Ontology (GO)
| • O-fucosyltransferase activity | • Notch signaling pathway |
| • Protein glycosylation | • Endoplasmic reticulum lumen |
Pathways
• Notch signaling
• Protein O-linked glycosylation
Protein Summary
POFUT1 is a 398-amino acid protein localized to the endoplasmic reticulum. It transfers fucose from GDP-fucose to serine/threonine residues in EGF-like repeats of Notch receptors and other substrates. This modification is critical for Notch receptor folding, trafficking, and activation. The protein contains a conserved fucosyltransferase domain and is essential for embryonic development and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POFUT1 Knockout HEK293 Cell Line | EDJ-KQ3541 | Human | 23509 | Details Get a Quote |
| POFUT1 Knockout A-549 Cell Line | EDJ-KQ24010 | Human | 23509 | Details Get a Quote |
| POFUT1 Knockout HCT 116 Cell Line | EDJ-KQ25388 | Human | 23509 | Details Get a Quote |
| POFUT1 Knockout HeLa Cell Line | EDJ-KQ25389 | Human | 23509 | Details Get a Quote |
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