Alternative titles; symbols
HGNC Approved Gene Symbol: RRBP1
Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:17,613,679-17,682,242 (from NCBI)
To clone genes for proteins involved in the formation of cardiac mesenchyme, Rezaee et al. (1993) used anti-cardiac extracellular matrix polyclonal antibodies to screen an embryonic chicken cardiocyte expression library. They used cultured chicken embryonic cardiocytes because the conditioned medium from such cultures induced epithelial/mesenchymal transformation; also, it was easier to obtain good quality RNA from cultured tissue. They identified a 130-kD protein and designated the protein ES/130. ES/130, which is expressed in endocardial cushions, was viewed as a candidate for a central role in atrioventricular septal defect because expression of the gene in the myocardium induces expression of the same gene in the endocardium. Basson et al. (1996) stated that ES/130 is also expressed in noncardiac chicken tissues such as limb and notochord.
Basson et al. (1996) identified the human homolog of chicken ES/130. RT-PCR studies revealed that human ES130 is expressed in both fetal and adult tissue and that its expression in the left ventricle is increased in the failing adult heart.
Basson et al. (1996) localized the human ES/130 gene to chromosome 20p12-p11.2 by fluorescence in situ hybridization.
Exclusion Studies
By FISH analysis of individuals with Alagille syndrome (118450) and deletions of 20p12, Basson et al. (1996) excluded ES/130 as a candidate gene for this disorder.
Basson, C. T., MacRae, C. A., Schoenberg-Fejzo, M., Morton, C. C., Spinner, N. B., Genin, A., Krug, E., Seidman, J. G., Seidman, C. E. Identification, characterization, and chromosomal localization of the human homolog (hES) of ES/130. Genomics 35: 628-631, 1996. [PubMed: 8812507] [Full Text: https://doi.org/10.1006/geno.1996.0413]
Rezaee, M., Isokawa, K., Halligan, N., Markwald, R. R., Krug, E. L. Identification of an extracellular 130 kDa protein involved in early cardiac morphogenesis. J. Biol. Chem. 268: 14404-14411, 1993. [PubMed: 7686155]