Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23509
Gene name Gene Name - the full gene name approved by the HGNC.
Protein O-fucosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POFUT1
Synonyms (NCBI Gene) Gene synonyms aliases
DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DDD2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001756 Process Somitogenesis IEA
GO:0005783 Component Endoplasmic reticulum IDA 15653671
GO:0006004 Process Fucose metabolic process IEA
GO:0006355 Process Regulation of transcription, DNA-templated NAS 11698403
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607491 14988 ENSG00000101346
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Dowling-degos disease dowling-degos disease, DOWLING-DEGOS DISEASE 2, Dowling-Degos disease 1, Dowling-Degos disease rs398123038, rs886041033, rs587777293, rs587777294, rs587777295, rs587777296, rs1569152303 23684010
Reticulate acropigmentation of kitamura Reticulate acropigmentation of Kitamura rs483352913, rs483352914, rs483352915, rs483352916
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 28166215 ClinVar
Dowling-Degos Disease Dowling-Degos disease GenCC
Neurodevelopmental Disorders complex neurodevelopmental disorder GenCC
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Associations from Text Mining
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