Alternative titles; symbols
HGNC Approved Gene Symbol: EMID1
Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38) : 22:29,205,896-29,259,597 (from NCBI)
By screening for genes upregulated during metanephrogenic development, followed by database analysis, Leimeister et al. (2002) identified 2 alternatively spliced variants encoding EMID1, which they designated EMU1, in both mouse and human. The deduced human proteins contain 441 and 439 amino acids. EMID1 contains an N-terminal signal peptide, followed by an emilin (EMI) domain, 2 collagen stretches, and a novel C-terminal domain. The EMI domain contains 7 conserved cysteines that may mediate dimerization. In situ hybridization of day-9.5 mouse embryos detected Emid1 expression in the nephric duct, the dorsal neural tube, epithelia of branchial arches, and the otic vesicle. At later developmental stages, Emid1 was expressed in the dorsal spinal cord and brain, where it was restricted to the proliferating ependymal and cortical cell layers. It was also expressed in smooth muscles of the digestive tract. Emid1 and Emid2 (608927) were expressed at sites of epithelial mesenchymal interactions in several tissues, where Emid1 was restricted to the epithelium, and Emid2 to the surrounding mesenchyme. This pattern was found in the developing nephrons of the kidney, salivary gland, and inner ear. In other tissues, the 2 genes were independently expressed.
Leimeister et al. (2002) determined that mouse Emid1 and Emid2 are N-glycosylated proteins that can exist as monomers, but they can also form homodimers, homotrimers, or larger complexes. Emid1 and Emid2 could also form heteromeric complexes via their EMI domains. Both proteins were secreted by transfected human embryonic kidney cells and deposited in the extracellular matrix.
Leimeister et al. (2002) determined that the Emid1 gene contains 15 exons and spans 54 kb. The 5-prime region contains a CpG island that extends into exon 1.
By genomic sequence analysis, Leimeister et al. (2002) mapped the EMID1 gene to chromosome 22q21.1.
Leimeister, C., Steidl, C., Schumacher, N., Erhard, S., Gessler, M. Developmental expression and biochemical characterization of Emu family members. Dev. Biol. 249: 204-218, 2002. [PubMed: 12221002] [Full Text: https://doi.org/10.1006/dbio.2002.0764]