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This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]
FUT8 (Fucosyltransferase 8) is a Protein Coding gene. Diseases associated with FUT8 include Congenital Disorder Of Glycosylation With Defective Fucosylation 1 and Lipodystrophy, Congenital Generalized, Type 2. Among its related pathways are Transcriptional misregulation in cancer and Keratan sulfate/keratin metabolism. Gene Ontology (GO) annotations related to this gene include SH3 domain binding and glycoprotein 6-alpha-L-fucosyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO:0008424 | glycoprotein 6-alpha-L-fucosyltransferase activity | IEA,TAS | 11698403 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0016758 | transferase activity, transferring hexosyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA,NAS | 11698403 |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0032580 | Golgi cisterna membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | N-Glycan biosynthesis | ||
2 | Transport to the Golgi and subsequent modification | ||
3 | Metabolism of proteins | ||
4 | N-glycan antennae elongation in the medial/trans-Golgi | ||
5 | Keratan sulfate/keratin metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | NAS | 11698403 |
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006487 | protein N-linked glycosylation | TAS,IBA | 21873635 |
GO:0006491 | N-glycan processing | TAS | 11698403 |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine diphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
GDP-L-fucose |
|
15839-70-0 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FUT8 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | FUT8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FUT8 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FUT8 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fut8 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fut8 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FUT8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FUT8 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fut8 30 |
|
||
Str.230 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | fut8-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | FUT8 (2 of 2) 31 |
|
OneToMany | |
fut8a 30 31 |
|
OneToMany | |||
Dr.5303 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001888 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | FucT6 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | fut-8 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11077 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
916157 | Uncertain Significance: not provided | 65,615,996(+) | T/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
rs1297536872 | Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1 | 65,721,948(+) | C/G | MISSENSE_VARIANT | |
rs1334593208 | Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1 | 65,721,882(+) | C/T | NONSENSE | |
rs1460811017 | Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1; not provided | 65,669,360(+) | C/T | NONSENSE,NON_CODING_TRANSCRIPT_VARIANT | |
rs1555388034 | Pathogenic: Congenital disorder of glycosylation with defective fucosylation 1 | 65,724,328(+) | G/T | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital disorder of glycosylation with defective fucosylation 1 |
|
|
lipodystrophy, congenital generalized, type 2 |
|
|
pancreatic acinar cell adenocarcinoma |
|
|
congenital disorder of glycosylation, type in |
|
|
leber plus disease |
|
|