POFUT3 (protein O-fucosyltransferase 3)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 84750 |
| Gene name | Protein O-fucosyltransferase 3 |
| Gene symbol | POFUT3 |
| Synonyms (NCBI Gene) |
FUCTXFUT10
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| Chromosome | 8 |
| Chromosome location | 8p12 |
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miRNA
miRNA information provided by mirtarbase database.
265
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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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Q6P4F1 | |||||||||||||||
| Protein name | GDP-fucose protein O-fucosyltransferase 3 (EC 2.4.1.221) (Alpha-(1,3)-fucosyltransferase 10) (EC 2.4.1.-) (Fucosyltransferase X) (Fuc-TX) (FucT-X) (Galactoside 3-L-fucosyltransferase 10) (Fucosyltransferase 10) | |||||||||||||||
| Protein function | Protein O-fucosyltransferase that specifically catalyzes O-fucosylation of serine or threonine residues in EMI domains of target proteins, such as MMRN1, MMRN2 and EMID1 (PubMed:39775168). Attaches fucose through an O-glycosidic linkage (PubMed: | |||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Expressed in lung, digestive tract, gall bladder, placenta, kidney, uterus and brain. Not detected in spleen, heart, muscle, liver and pancreas. {ECO:0000269|PubMed:19088067}. | |||||||||||||||
| Sequence |
MVRIQRRKLLASCLCVTATVFLLVTLQVMVELGKFERKEFKSSSLQDGHTKMEEAPTHLN |
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| Sequence length | 479 | |||||||||||||||
| 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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
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Related Genes
Genes most often co-reported with POFUT3 across shared curated disease and pathway associations.
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Diseases Linked via Similar Genes
Diseases curated for genes most similar to POFUT3 (see Related Genes above), that are NOT already directly curated for POFUT3 itself -- a lead worth checking, not a confirmed association.
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