Entity Details

Primary name OFUT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H488
EntryNameOFUT1_HUMAN
FullNameGDP-fucose protein O-fucosyltransferase 1
TaxID9606
Evidenceevidence at protein level
Length388
SequenceStatuscomplete
DateCreated2002-09-19
DateModified2021-06-02

Ontological Relatives

GenesPOFUT1

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

Subcellular Location

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Subcellular Location
Endoplasmic reticulum

Domains

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DomainNameCategoryType
IPR019378 GDP-fucose protein O-fucosyltransferaseFamilyFamily
IPR039922 GDP-fucose protein O-fucosyltransferase 1FamilyFamily

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.

Interactions

4 interactions