POFUT1 Gene Summary [Human]
This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | POFUT1 |
| Official Name | protein O-fucosyltransferase 1 [Source:HGNC Symbol;Acc:HGNC:14988] |
| Ensembl ID | ENSG00000101346 |
| Bio databases IDs | |
| Aliases | protein O-fucosyltransferase 1, peptide-O-fucosyltransferase, GDP-fucose protein O-fucosyltransferase 1 |
| Synonyms | DDD2, FUT12, O-Fuc-T, O-FucT-1, O-FUT, protein O-fucosyltransferase 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human POFUT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peptide-O-fucosyltransferase
- GDP-fucose protein O-fucosyltransferase and related proteins
- GDP-fucose protein O-fucosyltransferase
- lumenal domain
- fucosyltransferase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- chronic obstructive pulmonary disease
- growth failure
- organismal death
- Dowling-Degos disease type 2
- myeloid hyperplasia
- failure of heart looping
- gastric cancer
- hypoplasia
regulated by
- N-[N-(3,5-difluorophenacetyl-L-Ala)]-S-phenylglycine t-butyl ester
- GALC
- benzalkonium chloride
role in cell
- proliferation
- morphology
- expression in
- binding in
- migration
- production
- cisplatin resistance
- lymphopoiesis
- invasion by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- perinuclear region
- cellular membrane
- Nucleus
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POFUT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart development
- Notch signaling pathway
- protein O-linked glycosylation
- angiogenesis
- somitogenesis
- regulation of Notch signaling pathway
- protein O-linked fucosylation
- nervous system development
- regulation of transcription, DNA-dependent
- O-glycan processing
- fucose metabolic process
Cellular Component
Where in the cell the gene product is active
- membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- fucosyltransferase activity
- peptide-O-fucosyltransferase activity