InnateDB Protein
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IDBP-64893.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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POFUT1
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Protein Name
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protein O-fucosyltransferase 1
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Synonyms
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DDD2; FUT12; O-Fuc-T; O-FucT-1; O-FUT; OFUCT1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000364902
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InnateDB Gene
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IDBG-64891 (POFUT1)
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Protein Structure
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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}.
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Subcellular Localization |
Endoplasmic reticulum {ECO:0000250}.
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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.
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Tissue Specificity |
Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269PubMed:11524432}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0008417
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fucosyltransferase activity
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GO:0016757
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transferase activity, transferring glycosyl groups
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GO:0046922
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peptide-O-fucosyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR019378
GDP-fucose protein O-fucosyltransferase
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PFAM |
PF10250
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H488
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PhosphoSite |
PhosphoSite-Q9H488
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TrEMBL |
B4DUV4
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UniProt Splice Variant |
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Entrez Gene |
23509
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UniGene |
Hs.626259
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RefSeq |
NP_056167
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HUGO |
HGNC:14988
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OMIM |
607491
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CCDS |
CCDS13198
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HPRD |
06319
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IMGT |
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EMBL |
AF375884
AK291033
AK300810
AL121897
BC000582
CH471077
D80002
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GenPept |
AAH00582
AAL09576
BAA11497
BAF83722
BAG62466
CAC16424
CAH73300
EAW76383
EAW76384
EAW76385
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