POFUT1 (protein O-fucosyltransferase 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23509 |
| Gene name | Protein O-fucosyltransferase 1 |
| Gene symbol | POFUT1 |
| Synonyms (NCBI Gene) |
DDD2FUT12O-FUTO-Fuc-TO-FucT-1OFUCT1
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| Chromosome | 20 |
| Chromosome location | 20q11.21 |
| Summary | 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 pr |
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SNPs
SNP information provided by dbSNP.
3
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miRNA
miRNA information provided by mirtarbase database.
805
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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Q9H488 | ||||||||||
| Protein name | GDP-fucose protein O-fucosyltransferase 1 (EC 2.4.1.221) (Peptide-O-fucosyltransferase 1) (O-FucT-1) | ||||||||||
| Protein function | Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteine | ||||||||||
| PDB | 5UX6 , 5UXH | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:11524432}. | ||||||||||
| Sequence | |||||||||||
| Sequence length | 388 | ||||||||||
| Interactions | View interactions | ||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
81
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