Gene
pofut1
- ID
- ZDB-GENE-040303-2
- Name
- protein O-fucosyltransferase 1
- Symbol
- pofut1 Nomenclature History
- Previous Names
-
- zgc:110472
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable peptide-O-fucosyltransferase activity. Predicted to be involved in protein O-linked fucosylation and regulation of Notch signaling pathway. Predicted to act upstream of or within Notch signaling pathway and fucose metabolic process. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in Dowling-Degos disease. Orthologous to human POFUT1 (protein O-fucosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6906979 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Dowling-Degos disease | Alliance | Dowling-Degos disease 2 | 615327 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | GDP-fucose protein O-fucosyltransferase | GDP-fucose protein O-fucosyltransferase 1 |
|---|---|---|---|
|
UniProtKB:F1R676
|
395 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pofut1-201
(1)
|
Ensembl | 1,549 nt |
Interactions and Pathways
No data available
Plasmids
No data available