Cadherin-like and PC-esterase domain-containing protein 1 (CPED1)

Cadherin-like and PC-esterase domain-containing protein 1 (CPED1) is a protein-coding gene located on human chromosome 7, encoding a multi-domain protein predicted to contain a cadherin-like domain and a PC-esterase domain, possibly involved in carbohydrate binding and modification of glycoproteins at the cell membrane or extracellular matrix[2][4]. The gene undergoes complex alternative splicing, resulting in multiple protein isoforms with presumptive variability in cellular localization and function[2][4]. CPED1 is widely expressed in human and murine tissues, with highest abundance in gastrointestinal mucosa, cytoplasmic expression pattern, and potential nucleoplasmic localization[5]. Genome-wide association studies (GWAS) have repeatedly identified CPED1 as a locus associated with bone mineral density and fracture risk, but causality and the specific role of CPED1 in bone biology remain unproven, as gene knockout studies in animal models (e.g., mice, zebrafish) yield inconsistent phenotypes and do not support an essential role in bone formation or structure[2][4]. Diseases associated with CPED1 include pleiotropic congenital conditions (cleft palate, cardiac defects, intellectual disability, Klippel-Feil syndrome)[3]. No drugs are currently known to interact directly with CPED1, and no mechanistic drug actions are established. The protein is not currently recognized as a therapeutic target (e.g., receptor, enzyme, transporter), and its biological function in humans remains uncharacterized[3][4][6]. CPED1 is considered as a potential biomarker for patient selection or prognosis in pancreatic and renal cancers, according to expression data, but this is not clinically validated[5].

Other names

C7orf58UNQ9432/PRO34713FLJ21986Cadherin-like and PC-esterase domain-containing protein 1CPED1