background:
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.
Subcellular Location:
Membrane; Multi-pass membrane protein (Potential).
Tissue Specificity:
Widely expressed.
Similarity:
Belongs to the dpy-19 family.
Database links:
UniProtKB/Swiss-Prot: Q2PZI1.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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