HGNC Approved Gene Symbol: HOXC11
Cytogenetic location: 12q13.13 Genomic coordinates (GRCh38): 12:53,973,126-53,977,643 (from NCBI)
HOXC11 is a member of the Hox C cluster on human chromosome 12 (Scott, 1992) and is homologous to the mouse Hoxc11 gene (previously called Hox3.7) which is located on chromosome 15. See 142950 for general information on homeobox genes.
Using a yeast 1-hybrid screen designed to identify factors that bind to a portion of the lactase (LCT; 603202) gene promoter, Mitchelmore et al. (1998) identified a partial clone of HOXC11. They assembled the full-length HOXC11 cDNA using database searches and 5-prime RACE. The HOXC11 cDNA encodes a 304-amino acid protein with a homeodomain and a C-terminal extension identical to those of mouse Hoxc11. The homeodomain of HOXC11 is most similar to the homeodomains of mouse Hoxa11, mouse Hoxd11, and Drosophila Abdominal-B genes. Using Northern blot analysis, Mitchelmore et al. (1998) detected a 2.1-kb HOXC11 transcript in HeLa cells. This expression was confirmed by ribonuclease protection assay. A second, 1.7-kb transcript, hypothesized to encode a protein lacking 114 amino acids at the HOXC11 N-terminal end, was detected in HeLa cells and Caco-2 intestinal cells. This smaller transcript becomes more abundant in Caco-2 cells after differentiation. Using RT-PCR, Mitchelmore et al. (1998) showed that HOXC11 is expressed in fetal tissues, including kidney, skeletal muscle, and small intestine. The expression in fetal small intestine was higher than that in small intestine from a 15-year-old subject. Transfection studies using the C-terminal 190 amino acids of HOXC11 in HeLa cells demonstrated binding with similar affinity to the LCT promoter and an optimized Abdominal-B binding site. Both the long and short transcript forms of HOXC11 stimulated HNF1-alpha (142410)-dependent transcription of LCT in cotransfection experiments.
Mitchelmore, C., Troelsen, J. T., Sjostrom, H., Noren, O. The HOXC11 homeodomain protein interacts with the lactose-phlorizin hydrolase promoter and stimulates HNF1-alpha-dependent transcription. J. Biol. Chem. 273: 13297-13306, 1998. [PubMed: 9582375] [Full Text: https://doi.org/10.1074/jbc.273.21.13297]
Scott, M. P. Vertebrate homeobox gene nomenclature. Cell 71: 551-553, 1992. [PubMed: 1358459] [Full Text: https://doi.org/10.1016/0092-8674(92)90588-4]