Free for academic non-profit institutions. Other users need a Commercial license
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]
POFUT1 (Protein O-Fucosyltransferase 1) is a Protein Coding gene. Diseases associated with POFUT1 include Dowling-Degos Disease 2 and Dowling-Degos Disease. Among its related pathways are Signaling by GPCR and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include fucosyltransferase activity and peptide-O-fucosyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008417 | fucosyltransferase activity | IDA | 9023546 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0046922 | peptide-O-fucosyltransferase activity | TAS | 11698403 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA,IDA | 15653671 |
GO:0016020 | membrane | IDA | 9023546 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pre-NOTCH Expression and Processing | ||
2 | Mucin type O-glycan biosynthesis | ||
3 | Notch Signaling Pathway (WikiPathways) | ||
4 | Notch Signaling Pathway (sino) | ||
5 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001525 | angiogenesis | IEA | -- |
GO:0001756 | somitogenesis | IEA | -- |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006004 | fucose metabolic process | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | NAS | 11698403 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ptr-mir-1825 31 |
|
OneToOne | |
POFUT1 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | POFUT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POFUT1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pofut1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pofut1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | POFUT1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | POFUT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | POFUT1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POFUT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pofut1 30 |
|
||
Str.6855 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | pofut1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pofut1 30 31 |
|
OneToOne | |
Dr.15162 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.7311 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | O-fut1 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011338 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | C15C7.7 30 31 |
|
OneToOne | |
C15C7.1 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7678 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11245 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
683580 | Benign: not provided | 32,208,016(+) | T/C | SYNONYMOUS_VARIANT | |
710154 | Benign: Dowling-Degos disease 2 | 32,230,983(+) | G/A | SYNONYMOUS_VARIANT | |
719060 | Benign: Dowling-Degos disease 2 | 32,230,834(+) | A/G | MISSENSE_VARIANT | |
759691 | Benign: not provided | 32,230,814(+) | C/T | INTRON_VARIANT | |
760405 | Benign: not provided | 32,210,093(+) | T/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
dowling-degos disease 2 |
|
|
dowling-degos disease |
|
|
reticulate acropigmentation of kitamura |
|
|
pigmentation disease |
|
|
peters-plus syndrome |
|
|