4.4 Article

Identification of a novel human DDX40 gene, a new member of the DEAH-box protein family

Journal

JOURNAL OF HUMAN GENETICS
Volume 47, Issue 12, Pages 681-683

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1007/s100380200104

Keywords

pre-mRNA splicing; DExH/D-box proteins; RNA helicase; HRH1

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The DExH/D-box superfamily of RNA helicases seems to play key roles during RNA metabolism, such as pre-mRNA splicing, ribosome biogenesis, and others. We have cloned a new gene of the DEAH-box protein subgroup, designated DDX40 (DEAD/H-box polypeptide 40 gene). DDX40 contains 3656 nucleotides and codes for a putative 779-amino-acid protein. Sequence analysis of the cDNA product revealed that it contained a DEAH (Asp-Glu-Ala-His) sequence motif and other conserved motifs. The DDX40 protein shared 53% and 43% amino acid identity with human DDX8 and yeast Drh1, respectively, in the conserved region. Northern blot analysis showed that DDX40 was expressed ubiquitously in the eight tissues examined, implying a general physiological function of the protein. We speculate that, like other members of the DExH/D-box superfamily, DDX40 may play roles in pre-mRNA splicing, ribosome biogenesis and other RNA processing functions.

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