InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POFUT1

Summary

InnateDB Protein

IDBP-64895.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POFUT1

Protein Name

protein O-fucosyltransferase 1

Synonyms

DDD2; FUT12; O-Fuc-T; O-FucT-1; O-FUT; OFUCT1;

Species

Homo sapiens

Ensembl Protein

ENSP00000364882

InnateDB Gene

IDBG-64891 (POFUT1)

Protein Structure

UniProt Annotation

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 cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs). {ECO:0000269PubMed:11524432, ECO:0000269PubMed:8358148}.

Subcellular Localization

Endoplasmic reticulum {ECO:0000250}.

Disease Associations

Dowling-Degos disease 2 (DDD2) [MIM:615327]: 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. {ECO:0000269PubMed:23684010}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:11524432}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008417	fucosyltransferase activity
GO:0046922	peptide-O-fucosyltransferase activity

Biological Process

GO:0006004	fucose metabolic process
GO:0006355	regulation of transcription, DNA-templated
GO:0006493	protein O-linked glycosylation
GO:0007219	Notch signaling pathway
GO:0009790	embryo development
GO:0016266	O-glycan processing
GO:0036066	protein O-linked fucosylation