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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dowling-Degos disease 2 Pathogenic rs2122601454, rs2516174223, rs1569152303, rs398123038, rs886041033 RCV001849697
RCV004588592
RCV000696298
RCV000050207
RCV000050208
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
POFUT1-related disorder Pathogenic rs369818845 RCV003420896
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma Pathogenic rs398123038 RCV005890365
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma of large intestine Colorectal adenoma BEFREE 31411736
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28709865
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 29872497
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder BEFREE 30206308
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease GWASCAT_DG 28166215
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30250219, 30380753, 31279780, 31638246
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 23341073, 31638246, 34577783 Associate
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 28924218
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis BEFREE 31566882
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis Pubtator 31566882 Associate
★☆☆☆☆
Found in Text Mining only