Alternative titles; symbols
HGNC Approved Gene Symbol: LCE1D
Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:152,796,721-152,798,181 (from NCBI)
For background information on the LCE gene cluster, see 612603.
By database analysis to identify human orthologs of mouse genes encoding late envelope proteins (LEPs), Marshall et al. (2001) identified LCE1D, which they called LEP4.
Using real-time PCR with primers that did not differentiate between LCE1D and LCE1E (612607), Jackson et al. (2005) detected moderate LCE1D/E expression in human fetal, arm, penal, and abdominal skin. Much lower expression was detected in vulva, and little to no expression was detected in tongue and esophagus.
Marshall et al. (2001) showed that Lep4 was expressed in cultured mouse keratinocytes only after calcium induction. It was not associated with cornified cells until 4 to 5 days after calcium induction. In situ assays showed that Lep4 was a transglutaminase substrate and was incorporated at the cell periphery in a calcium-dependent manner. The incorporated protein was resistant to heat and detergent, consistent with stable crosslinking of Lep4 into the cornified envelope.
Jackson et al. (2005) showed that expression LCE1 genes, including LCE1D/E, was upregulated in cultured normal human keratinocytes by ultraviolet irradiation, but not by calcium. Real-time PCR of skin biopsies from 4 normal individuals revealed an individual who lacked LCE1D/E almost completely. This individual did not have a major skin defect, suggesting that loss of 1 of these genes has only minor consequences.
Jackson et al. (2005) determined that the LCE1D gene contains 2 exons. Exon 1 is noncoding.
By genomic sequence analysis, Marshall et al. (2001) mapped the LCE1D gene within the LCE gene cluster on chromosome 1q21. Jackson et al. (2005) stated that the mouse Lce1d gene maps to a syntenic LCE gene cluster on chromosome 3F1.
Jackson, B., Tilli, C. M. L. J., Hardman, M. J., Avilion, A. A., MacLeod, M. C., Ashcroft, G. S., Byrne, C. Late cornified envelope family in differentiating epithelia--response to calcium and ultraviolet irradiation. J. Invest. Derm. 124: 1062-1070, 2005. [PubMed: 15854049] [Full Text: https://doi.org/10.1111/j.0022-202X.2005.23699.x]
Marshall, D., Hardman, M. J., Nield, K. M., Byrne, C. Differentially expressed late constituents of the epidermal cornified envelope. Proc. Nat. Acad. Sci. 98: 13031-13036, 2001. [PubMed: 11698679] [Full Text: https://doi.org/10.1073/pnas.231489198]