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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... See more...
Aliases for FUT8 Gene
Aliases for FUT8 Gene
External Ids for FUT8 Gene
- HGNC: 4019
- Entrez Gene: 2530
- Ensembl: ENSG00000033170
- OMIM: 602589
- UniProtKB: Q9BYC5
Previous GeneCards Identifiers for FUT8 Gene
- GC14P063206
- GC14P059672
- GC14P063867
- GC14P064947
- GC14P065877
- GC14P046046
Summaries for FUT8 Gene
-
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]
GeneCards Summary for FUT8 Gene
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.
UniProtKB/Swiss-Prot Summary for FUT8 Gene
-
Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.
Additional gene information for FUT8 Gene
- HGNC(4019)
- Entrez Gene(2530)
- Ensembl(ENSG00000033170)
- OMIM(602589)
- UniProtKB(Q9BYC5)
- Open Targets Platform(ENSG00000033170)
- Monarch Initiative
- Search for FUT8 at DataMed
- Search for FUT8 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FUT8 Gene
Genomics for FUT8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FUT8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FUT8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FUT8
- Top Transcription factor binding sites by QIAGEN in the FUT8 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- Egr-2
- POU3F1
Genomic Locations for FUT8 Gene
Genomic Locations for FUT8 Gene
- chr14:65,410,592-65,744,122
- (GRCh38/hg38)
- Size:
- 333,531 bases
- Orientation:
- Plus strand
- chr14:65,877,310-66,210,839
- (GRCh37/hg19)
- Size:
- 333,530 bases
- Orientation:
- Plus strand
Genomic View for FUT8 Gene
Genes around FUT8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q23.3 by HGNC
- 14q23.3 by Entrez Gene
- 14q23.3 by Ensembl
FUT8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FUT8 Gene
Proteins for FUT8 Gene
-
Protein details for FUT8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BYC5-FUT8_HUMAN
- Recommended name:
- Alpha-(1,6)-fucosyltransferase
- Protein Accession:
- Q9BYC5
- B4DFS7
- G3V5N0
- O00235
- Q8IUA5
- Q9BYC6
- Q9P2U5
- Q9P2U6
Protein attributes for FUT8 Gene
- Size:
- 575 amino acids
- Molecular mass:
- 66516 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- [Isoform 4]: Seems to be only expressed in retina, inactive as a fucosyltransferase.
Protein Expression for FUT8 Gene
Selected DME Specific Peptides for FUT8 Gene
- Q9BYC5:
-
- LEGNELQRHADE
- GGQNAHN
- TGHWSGE
- LRRRIENGAKELWFFLQSELKKLK
- ETCTDRSG
- LLKEAKTKY
- EAAFHPIEEY
- EIPMEPGDIIGVAGNHWDGY
- EPGDIIGVAGNHWDGYSKG
- WTGSWRWIMLILFAWGTLLFYIGGHLVRDNDHPDHS
- KAKEQIE
- PRPPYLPLAVPEDLA
- RVYLATDDP
- MTDLYYLSQTDGAGDWRE
- WRYATGGWETVF
- NKGCGYGCQLHHVVYCF
- HGDPAVWWVSQFVKYLIRPQPWLEKEIEE
Post-translational modifications for FUT8 Gene
- Tyrosine phosphorylated by PKDCC/VLK.
-
Glycosylation at Thr564
- NX_Q9BYC5 (NX_Q9BYC5-1)
- Modification sites at PhosphoSitePlus
Other Protein References for FUT8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FUT8
- Novus Biologicals Antibodies for FUT8
-
Abcam antibodies for FUT8
- Invitrogen Antibodies for FUT8 (AFLGC-FUT8)
-
Santa Cruz Biotechnology (SCBT) Antibodies for FUT8
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for FUT8
- Origene Custom Protein Services for FUT8
- Sino Biological Recombinant Proteins for FUT8
- Sino Biological Cell Lysates for FUT8
- antibodies-online: Show 12 available FUT8 Proteins ranked by validation data
- Compare Top FUT8 Proteins
-
Quality Products:
-
Abcam proteins for FUT8
Assay Products
- RayBiotech Custom Human Fucosyltransferase 8 ELISA
-
Custom Assay ServicesOriGene ELISA Kits for FUT8
-
Boster Bio ELISA Kits for FUT8
Domains & Families for FUT8 Gene
Gene Families for FUT8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for FUT8 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FUT8 Gene
- GenScript: Design optimal peptide antigens:
-
- FUT8 protein (A5PLL2_HUMAN)
- Glycoprotein 6-alpha-L-fucosyltransferase (FUT8_HUMAN)
- Alpha-(1,6)-fucosyltransferase (Q546E0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BYC5- Family:
-
- Belongs to the glycosyltransferase 23 family.
Function for FUT8 Gene
Molecular function for FUT8 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=GDP-beta-L-fucose + N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] = GDP + H(+) + N(4)-{beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAcl-(1->4)-[alpha-L-Fuc-(1->6)]-beta-D-GlcNAc}-L-asparaginyl-[protein]; Xref=Rhea:RHEA:12985, Rhea:RHEA-COMP:13526, Rhea:RHEA-COMP:13532, ChEBI:CHEBI:15378, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:60651, ChEBI:CHEBI:137207; EC=2.4.1.68; Evidence={ECO:0000269|PubMed:17172260};.
- GENATLAS Biochemistry:
- fucosyltransferase,alpha (1,6),8,involved in the biosynthesis of asparagine-linked glycoprotein oligosaccharides
Enzyme Numbers (IUBMB) for FUT8 Gene
Phenotypes From GWAS Catalog for FUT8 Gene
| 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 | -- |
Phenotypes for FUT8 Gene
- MGI mutant phenotypes for FUT8:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FUT8:
Animal Models for FUT8 Gene
- MGI Knock Outs for FUT8:
-
- Fut8 Fut8<tm1Nta>
Animal Model Products
-
Taconic Biosciences Mouse Models for FUT8
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FUT8 - Select products 50% OFF >
- * FUT8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FUT8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FUT8
-
Santa Cruz Biotechnology (SCBT) CRISPR for FUT8
miRNA for FUT8 Gene
- miRTarBase miRNAs that target FUT8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FUT8
- Browse OriGene Inhibitory RNA Products For FUT8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUT8
Clone Products
- Applied Biological Materials (abm): Clones for FUT8 - Select products 50% OFF >
- * FUT8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209034
- MR209034
- MR209034L3
- MR209034L4
- MR229645
- MR229769
- MR230559
- RC212345
- RC212345L3
- RC212345L4
- RC215440
- RC215440L3
- RC215440L4
- RC219434
- RC219434L3
- RC219434L4
- RC223075
- RC223075L1
- RC223075L2
- RC223075L3
- RC223075L4
- RG212345
- RG215440
- RG219434
- RG223075
- RR213334
- RR213334L3
- RR213334L4
- MR209034L3V
- MR209034L4V
- RC212345L3V
- RC212345L4V
- RC215440L3V
- RC215440L4V
- RC219434L3V
- RC219434L4V
- RC223075L1V
- RC223075L2V
- RC223075L3V
- RC223075L4V
- RR213334L3V
- RR213334L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FUT8
- Addgene plasmids for FUT8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FUT8
Cell Line Products
-
Horizon Cell Lines for FUT8
No data available for Transcription Factor Targets and HOMER Transcription for FUT8 Gene
Localization for FUT8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FUT8 Gene
- Golgi apparatus, Golgi stack membrane. Single-pass type II membrane protein. Note=Membrane-bound form in trans cisternae of Golgi. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| extracellular | 4 |
| cytosol | 3 |
| plasma membrane | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endosome | 1 |
| lysosome | 1 |
| peroxisome | 0 |
- Golgi apparatus (4)
- Cytosol (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for FUT8 Gene
| 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 | ||
Pathways by source for FUT8 Gene
1 BioSystems pathway for FUT8 Gene
UniProtKB/Swiss-Prot Q9BYC5-FUT8_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for FUT8 Gene
Selected Interacting proteins:
Q9BYC5-FUT8_HUMAN
ENSP00000353910
for FUT8 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for FUT8
| 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 | -- |
No data available for SIGNOR curated interactions for FUT8 Gene
Drugs & Compounds for FUT8 Gene
| 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 |
|
Transcripts for FUT8 Gene
mRNA/cDNA for FUT8 Gene
- 8 REFSEQ mRNAs :
- 24 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000342677 2490 nts (view in UCSC)
- ENST00000358307 2664 nts (view in UCSC)
- ENST00000360689 5166 nts (view in UCSC)
- ENST00000394586 3559 nts (view in UCSC)
- ENST00000549235 496 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FUT8 - Select products 50% OFF >
- * FUT8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FUT8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FUT8
-
Santa Cruz Biotechnology (SCBT) CRISPR for FUT8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FUT8
- Browse OriGene Inhibitory RNA Products For FUT8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FUT8
Clone Products
- Applied Biological Materials (abm): Clones for FUT8 - Select products 50% OFF >
- * FUT8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG209034
- MR209034
- MR209034L3
- MR209034L4
- MR229645
- MR229769
- MR230559
- RC212345
- RC212345L3
- RC212345L4
- RC215440
- RC215440L3
- RC215440L4
- RC219434
- RC219434L3
- RC219434L4
- RC223075
- RC223075L1
- RC223075L2
- RC223075L3
- RC223075L4
- RG212345
- RG215440
- RG219434
- RG223075
- RR213334
- RR213334L3
- RR213334L4
- MR209034L3V
- MR209034L4V
- RC212345L3V
- RC212345L4V
- RC215440L3V
- RC215440L4V
- RC219434L3V
- RC219434L4V
- RC223075L1V
- RC223075L2V
- RC223075L3V
- RC223075L4V
- RR213334L3V
- RR213334L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FUT8
- Addgene plasmids for FUT8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FUT8
| 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: |
Relevant External Links for FUT8 Gene
- GeneLoc Exon Structure for
- FUT8
Expression for FUT8 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Nasal epithelium (36.1), Breast (12.4), and Bone (6.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FUT8 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FUT8
SOURCE GeneReport for Unigene cluster for FUT8 Gene:
Hs.597649Evidence on tissue expression from TISSUES for FUT8 Gene
- Nervous system(4.9)
- Lung(4.7)
- Liver(3.6)
- Pancreas(3.3)
- Skin(3.2)
- Intestine(3.1)
- Stomach(2.9)
- Eye(2.7)
- Blood(2.5)
- Kidney(2.5)
- Lymph node(2.2)
- Thyroid gland(2.1)
Primer Products
-
OriGene qPCR primer pairs for FUT8
-
OriGene qPCR primer pairs and template standards for FUT8
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FUT8 Gene
Orthologs for FUT8 Gene
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 |
|
- Species where no ortholog for FUT8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FUT8 Gene
- ENSEMBL:
- Gene Tree for FUT8 (if available)
- TreeFam:
- Gene Tree for FUT8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FUT8: view image
Paralogs for FUT8 Gene
No data available for Paralogs for FUT8 Gene
Variants for FUT8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FUT8 Gene
| 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 |
Residual Variation Intolerance Score:
20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.29;
81.33% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FUT8 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FUT8 Gene
Disorders for FUT8 Gene
(5) MalaCards diseases for FUT8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital disorder of glycosylation with defective fucosylation 1 |
|
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| lipodystrophy, congenital generalized, type 2 |
|
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| pancreatic acinar cell adenocarcinoma |
|
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| congenital disorder of glycosylation, type in |
|
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| leber plus disease |
|
|
Search FUT8 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FUT8_HUMAN- Congenital disorder of glycosylation with defective fucosylation 1 (CDGF1) [MIM:618005]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. {ECO:0000269 PubMed:29304374, ECO:0000269 PubMed:30237576}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FUT8
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FUT8 Gene
Publications for FUT8 Gene
- Crystal structure of mammalian alpha1,6-fucosyltransferase, FUT8. (PMID: 17172260) Ihara H … Taniguchi N (Glycobiology 2007) 3 4 23
- Genomic structure and promoter analysis of the human alpha1, 6-fucosyltransferase gene (FUT8). (PMID: 10814706) Yamaguchi Y … Taniguchi N (Glycobiology 2000) 3 4 23
- Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. (PMID: 29304374) Ng BG … Freeze HH (American journal of human genetics 2018) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation. (PMID: 21203500) Lauc G … Rudan I (PLoS genetics 2010) 3 41
ExternalLinks
Products for FUT8 Gene
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