Homo sapiens Gene: POFUT1
Summary
InnateDB Gene IDBG-64891.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POFUT1
Gene Name protein O-fucosyltransferase 1
Synonyms DDD2; FUT12; O-Fuc-T; O-FucT-1; O-FUT; OFUCT1
Species Homo sapiens
Ensembl Gene ENSG00000101346
Encoded Proteins
protein O-fucosyltransferase 1
protein O-fucosyltransferase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-like repeats of a number of cell surface and secreted proteins. O-fucose glycans are involved in ligand-induced receptor signaling. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:32207880-32238667
Strand Forward strand
Band q11.21
Transcripts
ENST00000375749 ENSP00000364902
ENST00000375730 ENSP00000364882
ENST00000486717
ENST00000465791
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:0016757 transferase activity, transferring glycosyl groups
GO:0046922 peptide-O-fucosyltransferase activity
Biological Process
GO:0001525 angiogenesis
GO:0001756 somitogenesis
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:0008152 metabolic process
GO:0009790 embryo development
GO:0016266 O-glycan processing
GO:0036066 protein O-linked fucosylation
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
Notch pathway
REACTOME
Pre-NOTCH Processing in the Endoplasmic Reticulum pathway
Pre-NOTCH Expression and Processing pathway
Signal Transduction pathway
Signaling by NOTCH pathway
KEGG
Other types of O-glycan biosynthesis pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.472409 Hs.626259
RefSeq NM_015352 NM_172236
HUGO
OMIM
CCDS CCDS13198 CCDS13199
HPRD 06319
IMGT
EMBL
GenPept
RNA Seq Atlas