HGNC Approved Gene Symbol: HRC
Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,151,198-49,155,396 (from NCBI)
Histidine-rich calcium-binding protein is a luminal sarcoplasmic reticulum protein of 165 kD identified by Hofmann et al. (1989) based on its ability to bind low-density lipoprotein with high affinity.
Anderson et al. (2004) identified a transcriptional enhancer within the HRC gene that contains a small, highly conserved sequence with a consensus MEF2 (see 600660)-binding site. This sequence bound MEF2 in a mobility shift assay, and it was necessary and sufficient to direct expression of a reporter gene during embryonic development in mouse cardiac, skeletal, and vascular smooth muscle cells. The enhancer sequence lacks an SRF (600589)-binding site and was not activated by SRF. The HRC enhancer is unusual in that it is an MEF2-dependent and SRF-independent transcriptional target in smooth muscle cells.
Hofmann et al. (1991) localized the HRC gene to human chromosome 19 and mouse chromosome 7 by hybridization of a human HRC cDNA fragment to a panel of DNAs from interspecific somatic cell hybrids. Known homology of synteny between a portion of human chromosome 19 and a portion of mouse chromosome 7 and in situ hybridization of a biotin-labeled HRC probe to human chromosomes suggested a localization to region 19q13.3. Polymorphisms in the gene, useful for family linkage studies, were identified. Brown et al. (1993) mapped the homologous gene to mouse chromosome 7 proximal to Ngfg (see 162030) and the cluster of loci that cosegregate with it. The result further delineated and confirmed a region of conserved linkage on human 19q and distal mouse chromosome 7.
Anderson, J. P., Dodou, E., Heidt, A. B., De Val, S. J., Jaehnig, E. J., Greene, S. B., Olson, E. N., Black, B. L. HRC is a direct transcriptional target of MEF2 during cardiac, skeletal, and arterial smooth muscle development in vivo. Molec. Cell. Biol. 24: 3757-3768, 2004. [PubMed: 15082771] [Full Text: https://doi.org/10.1128/MCB.24.9.3757-3768.2004]
Brown, S. D. M., Chartier, F., Johnson, K., Cavanna, J. S. Mapping the Hrc gene to proximal mouse chromosome 7: delineation of a conserved linkage group with human 19q. Genomics 18: 459-461, 1993. [PubMed: 8288260] [Full Text: https://doi.org/10.1006/geno.1993.1502]
Hofmann, S. L., Brown, M. S., Lee, E., Pathak, R. K., Anderson, R. G. W., Goldstein, J. L. Purification of a sarcoplasmic reticulum protein that binds Ca(2+) and plasma lipoproteins. J. Biol. Chem. 264: 8260-8270, 1989. [PubMed: 2498310]
Hofmann, S. L., Topham, M., Hsieh, C.-L., Francke, U. cDNA and genomic cloning of HRC, a human sarcoplasmic reticulum protein, and localization of the gene to human chromosome 19 and mouse chromosome 7. Genomics 9: 656-669, 1991. [PubMed: 2037293] [Full Text: https://doi.org/10.1016/0888-7543(91)90359-m]