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Gene Review:

POFUT2 - protein O-fucosyltransferase 2

Homo sapiens

Synonyms: C21orf80, FUT13, GDP-fucose protein O-fucosyltransferase 2, KIAA0958, O-FucT-2, ...

Menzel, O. et al., Sato, T. et al., Sertié, A.L. et al., Kozma, K. et al.

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Disease relevance of POFUT2

The TSR domain expressed in Escherichia coli was first fucosylated by the recombinant protein O-fucosyltransferase 2 (POFUT2), after which it became an acceptor substrate for the recombinant beta3Glc-T, which could apparently transfer Glc to the fucosylated TSR domain [1].

High impact information on POFUT2

We reconstructed the haplotypes of this family with ten additional markers (five were novel) and narrowed the candidate interval to a region of <245 kb, which contains 24 expressed sequence tags, the KIAA0958 gene and the 5' end of the COL18A1 gene [2].
The activity profiles of beta1,3-glucosyltransferase and protein O-fucosyltransferase 2, the enzyme that carries out the first step in TSR O-fucosylation, superimpose in endoplasmic reticulum subfractions obtained by density gradient centrifugation [3].
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development [4].
Transient expression of tagged C21orf80 proteins suggests a primary intracellular localization in the Golgi apparatus [4].

Biological context of POFUT2

Here, we isolated and characterized C21orf80 (human chromosome 21 open reading frame 80), a potential novel protein O-fucosyltransferase gene that encodes three alternatively spliced transcripts [4].

References

Molecular cloning and characterization of a novel human {beta}1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. Sato, T., Sato, M., Kiyohara, K., Sogabe, M., Shikanai, T., Kikuchi, N., Togayachi, A., Ishida, H., Ito, H., Kameyama, A., Gotoh, M., Narimatsu, H. Glycobiology (2006) [Pubmed]
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome). Sertié, A.L., Sossi, V., Camargo, A.A., Zatz, M., Brahe, C., Passos-Bueno, M.R. Hum. Mol. Genet. (2000) [Pubmed]
Identification and Characterization of abeta1,3-Glucosyltransferase That Synthesizes the Glc-beta1,3-Fuc Disaccharide on Thrombospondin Type 1 Repeats. Kozma, K., Keusch, J.J., Hegemann, B., Luther, K.B., Klein, D., Hess, D., Haltiwanger, R.S., Hofsteenge, J. J. Biol. Chem. (2006) [Pubmed]
The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development. Menzel, O., Vellai, T., Takacs-Vellai, K., Reymond, A., Mueller, F., Antonarakis, S.E., Guipponi, M. Genomics (2004) [Pubmed]

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AgaP_AGAP000757	Anopheles gambiae str. PEST
POFUT2	Bos taurus
pad-2	Caenorhabditis elegans
POFUT2	Canis lupus familiaris
pofut2	Danio rerio
O-fut2	Drosophila melanogaster
POFUT2	Gallus gallus
LOC721991	Macaca mulatta
Pofut2	Mus musculus
POFUT2	Pan troglodytes
Pofut2	Rattus norvegicus
pofut2	Xenopus (Silurana) tropicalis

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