FUT8

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]

Full Name

Fucosyltransferase 8

Function

Catalyzes the addition of fucose in alpha 1-6 linkage to the first GlcNAc residue, next to the peptide chains in N-glycans.

Biological Process

Cell migration Source: Ensembl
GDP-L-fucose metabolic process Source: UniProtKB
Integrin-mediated signaling pathway Source: Ensembl
In utero embryonic development Source: UniProtKB
L-fucose catabolic process Source: UniProtKB
N-glycan fucosylation Source: GO_Central
N-glycan processing Source: UniProtKB
Oligosaccharide biosynthetic process Source: ProtInc
Protein glycosylation in Golgi Source: InterPro
Protein N-linked glycosylation Source: GO_Central
Protein N-linked glycosylation via asparagine Source: UniProtKB
Receptor metabolic process Source: Ensembl
Regulation of cellular response to oxidative stress Source: Ensembl
Regulation of gene expression Source: Ensembl
Respiratory gaseous exchange by respiratory system Source: Ensembl
Transforming growth factor beta receptor signaling pathway Source: Ensembl
Viral protein processing Source: Reactome

Cellular Location

Golgi stack membrane. Membrane-bound form in trans cisternae of Golgi.

Involvement in disease

Congenital disorder of glycosylation with defective fucosylation 1 (CDGF1):
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.

Topology

Cytoplasmic: 1-9
Helical: 10-30
Lumenal: 31-575

PTM

Tyrosine phosphorylated by PKDCC/VLK.