Entity Details

Primary name POFUT1
Entity type gene
Source Source Link

Details

PrimaryID23509
RefseqGeneNG_033906
SymbolPOFUT1
Nameprotein O-fucosyltransferase 1
Chromosome20
Location20q11.21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsOFUT1_HUMAN

GO terms

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GOName
GO:0001525 angiogenesis
GO:0001756 somitogenesis
GO:0005783 endoplasmic reticulum
GO:0006004 fucose metabolic process
GO:0006355 regulation of transcription, DNA-templated
GO:0006493 protein O-linked glycosylation
GO:0007219 Notch signaling pathway
GO:0007399 nervous system development
GO:0007507 heart development
GO:0008417 fucosyltransferase activity
GO:0008593 regulation of Notch signaling pathway
GO:0016020 membrane
GO:0016266 O-glycan processing
GO:0036066 protein O-linked fucosylation
GO:0046922 peptide-O-fucosyltransferase activity

Diseases

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Disease IDSourceNameDescription
615327 OMIMDowling-Degos disease 2 (DDD2)An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. The disease is caused by variants affecting the gene represented in this entry.