The detailed entries of the Imprinted Gene Catalogue database were created by Benjamin Tycko, Columbia University, New York and are updated by Ian Morison


Detailed entry for Gene:



Human Chr5q22
Mouse Chr11 (proximal)




Maternal allele is silenced; paternal allele active. U2af1-rs1 is mprinted in mice (Shibata H et al, 1997; Hatada I et al, 1995) but not in humans (Pearsall RS et al, 1996).

Gene Product:

Sequence similarity to splicing factor U2af. U2af-rs1 is an intronless gene that may have arisen via retrotransposition (Nabetani A et al, 1997).

Functional Data:

Functional information for U2af1-rs1 is not available. Mice with maternal and paternal uniparental disomy for this imprinted region show growth retarded and overgrowth phenotypes, respectively (Cattanach BM et al, 1998).


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