Alternative titles; symbols
HGNC Approved Gene Symbol: SCML1
Cytogenetic location: Xp22.13 Genomic coordinates (GRCh38): X:17,737,128-17,754,985 (from NCBI)
Using exon trapping on a contig from Xp22, van de Vosse et al. (1998) identified a novel human gene with significant sequence similarity to the Drosophila Scm ('sex comb on midleg') gene, a member of the Drosophila Polycomb group (PcG) of genes that are involved in the regulation of homeotic genes. They therefore named the gene SCM-like-1 (SCML1). Northern blot analysis detected a major approximately 3-kb SCML1 transcript in all human adult and fetal tissues tested, with the highest expression in adult skeletal muscle and heart and fetal liver. The predicted 208-amino acid SCML1 protein contains 2 domains that are present in PcG gene products and their mammalian homologs. The SCML1 protein also shares high sequence similarity with the Drosophila polyhomeotic (Ph) gene product, mouse Mph1, and human EDR1 (602978) and EDR2 (602979), all of which are PcG members or homologs. The authors identified cDNAs representing alternatively spliced SCML1 transcripts.
The SCML1 gene spans 18 kb and contains 6 exons. It is transcribed from telomere to centromere.
Van de Vosse et al. (1998) found that the SCML1 gene is located 14 kb centromeric of marker DXS418, between DXS418 and DXS7994, in Xp22.2-p22.1.
van de Vosse, E., Walpole, S. M., Nicolaou, A., van der Bent, P., Cahn, A., Vaudin, M., Ross, M. T., Durham, J., Pavitt, R., Wilkinson, J., Grafham, D., Bergen, A. A. B., van Ommen, G.-J. B., Yates, J. R. W., den Dunnen, J. T., Trump, D. Characterization of SCML1, a new gene in Xp22, with homology to developmental polycomb genes. Genomics 49: 96-102, 1998. [PubMed: 9570953] [Full Text: https://doi.org/10.1006/geno.1998.5224]