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POFUT1 (protein O-fucosyltransferase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23509
Gene nameGene Name - the full gene name approved by the HGNC.
Protein O-fucosyltransferase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
POFUT1
SynonymsGene synonyms aliases
DDD2, FUT12, O-FUT, O-Fuc-T, O-FucT-1, OFUCT1
ChromosomeChromosome number
20
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q11.21
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 388
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Other types of O-glycan biosynthesis  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 28166215
Dowling-degos disease dowling-degos disease, DOWLING-DEGOS DISEASE 2, Dowling-Degos disease 1 rs398123038, rs886041033, rs587777293, rs587777294, rs587777295, rs587777296, rs1569152303 23684010
Reticulate acropigmentation of kitamura Reticulate acropigmentation of Kitamura rs483352913, rs483352914, rs483352915, rs483352916
Unknown
Disease name Disease term dbSNP ID References
Phrynoderma Phrynoderma

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