Gene Gene information from NCBI Gene database.
Entrez ID 23509
Gene name Protein O-fucosyltransferase 1
Gene symbol POFUT1
Synonyms (NCBI Gene)
DDD2FUT12O-FUTO-Fuc-TO-FucT-1OFUCT1
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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs398123038 G>T Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs886041033 A>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs1569152303 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
805
miRTarBase ID miRNA Experiments Reference
MIRT022339 hsa-miR-124-3p Microarray 18668037
MIRT023228 hsa-miR-122-5p Microarray 17612493
MIRT025975 hsa-miR-148a-3p Sequencing 20371350
MIRT031483 hsa-miR-16-5p Proteomics 18668040
MIRT040628 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001756 Process Somitogenesis IEA
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 15653671
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607491 14988 ENSG00000101346
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF10250 O-FucT 34 369 GDP-fucose protein O-fucosyltransferase Family
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Other types of O-glycan biosynthesis  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Dowling-Degos disease 2 Pathogenic rs2122601454, rs2516174223, rs1569152303, rs398123038, rs886041033 RCV001849697
RCV004588592
RCV000696298
RCV000050207
RCV000050208
POFUT1-related disorder Pathogenic rs369818845 RCV003420896
Squamous cell lung carcinoma Pathogenic rs398123038 RCV005890365
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Benign; Likely benign rs78861748 RCV005902613
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Inhibit 25165882
Adenoma Associate 31411736
Colorectal Neoplasms Associate 23341073, 31638246, 34577783
Dermatitis Associate 31566882
Developmental Disabilities Associate 29452367
Dowling Degos Disease Associate 24387993, 25157627, 28334865, 29452367, 31566882
Embryo Loss Associate 29452367
Failure to Thrive Associate 29452367
Glioma Associate 17986135
Heart Aneurysm Associate 29452367