POFUT1 (protein O-fucosyltransferase 1)

2007-04-01  

Identity

HGNC
LOCATION
20q11.21
LOCUSID
ALIAS
DDD2,FUT12,O-FUT,O-Fuc-T,O-FucT-1,OFUCT1
FUSION GENES

Other Information

Locus ID:

NCBI: 23509
MIM: 607491
HGNC: 14988
Ensembl: ENSG00000101346

Variants:

dbSNP: 23509
ClinVar: 23509
TCGA: ENSG00000101346
COSMIC: POFUT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101346ENST00000375730Q9H488
ENSG00000101346ENST00000375749Q9H488

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Other types of O-glycan biosynthesisKEGGko00514
Other types of O-glycan biosynthesisKEGGhsa00514
Signal TransductionREACTOMER-HSA-162582
Signaling by NOTCHREACTOMER-HSA-157118
Pre-NOTCH Expression and ProcessingREACTOMER-HSA-1912422
Pre-NOTCH Processing in the Endoplasmic ReticulumREACTOMER-HSA-1912399

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
183470152008Roles of Pofut1 and O-fucose in mammalian Notch signaling.80
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
156536712005O-fucosylation of notch occurs in the endoplasmic reticulum.48
236840102013Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.29
270032602016Overexpression of protein O-fucosyltransferase 1 accelerates hepatocellular carcinoma progression via the Notch signaling pathway.18
283348652017Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.12
251658822014LIF upregulates poFUT1 expression and promotes trophoblast cell migration and invasion at the fetal-maternal interface.8
240649212013Protein O-fucosyltransferase 1: a potential diagnostic marker and therapeutic target for human oral cancer.7
302502192018POFUT1 promotes colorectal cancer development through the activation of Notch1 signaling.7
287098652017Overexpression of Pofut1 and activated Notch1 may be associated with poor prognosis in breast cancer.6

Citation

Dessen P

POFUT1 (protein O-fucosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47518/pofut1