D19L1_HUMAN, Dpy 19 like 1 C. elegans, Dpy 19 like protein 1, Dpy-19-like protein 1, DPY19L1, GA0500, KIAA0877, Protein dpy 19 homolog 1, Protein dpy-19 homolog 1, Protein dpy19 homolog 1.
Dpy-19 (dumpy-19), is a 683 amino acid C. elegans protein that is required to orient the neuroblasts QL and QR correctly on the anterior/posterior axis. Dpy-19 is expressed highly in dorsal hyp7 cells, ventral P cells and lateral V cells, and dorsal and ventral body muscle cells. DPY19L1 (Dpy-19-like protein 1), also known as KIAA0877, is a 675 amino acid multi-pass membrane protein that belongs to the Dpy-19 family. DPY19L1 is expressed as two isoforms produced by alternative splicing and is encoded by a gene mapping to human chromosome 7, which encodes over 1,000 genes and makes up about 5% of the human genome. Diseases associated with chromosome 7 include Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia.
