Alternative titles; symbols
HGNC Approved Gene Symbol: CDK2AP1
Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:123,260,976-123,272,240 (from NCBI)
Todd et al. (1995) isolated an evolutionarily conserved gene that exhibits frequent loss of heterozygosity (LOH) and significant reduction in expression in malignant oral keratinocytes of the hamster (Mesocricetus auratus). They symbolized the gene doc-1 for 'deleted in oral cancer.' Transfection of normal doc-1 cDNA into malignant oral keratinocytes reversed the transformed phenotype in the hamster model.
Daigo et al. (1997) isolated a human cDNA encoding a 115-amino acid polypeptide that shows 97% identity to the doc-1 gene of the hamster. It also shows a high degree of homology to a gene induced by TNF-alpha (191160) in the mouse.
To investigate the possible role of DOC1 in esophageal carcinogenesis, Daigo et al. (1997) examined genetic alterations in expression levels of the gene in 13 esophageal carcinoma cell lines and 10 primary esophageal carcinomas. No mutation or reduction of expression was observed in any of the 23 cancer materials examined.
Using a yeast 2-hybrid screen, Buajeeb et al. (2004) showed that human DOC1 interacted with its homolog DOC1R (CDK2AP2; 620061), and confirmed the interaction by pull-down assays with purified recombinant proteins as well as by immunoprecipitation in human HEK293 cells. Deletion mutation analysis revealed that amino acids 20 through 25 of DOC1 are critical for interaction with DOC1R.
By fluorescence in situ hybridization, Daigo et al. (1997) mapped the human DOC1 gene to chromosome 12q24.31.
Buajeeb, W., Zhang, X., Ohyama, H., Han, D., Surarit, R., Kim, Y., Wong, D. T. W. Interaction of the CDK2-associated protein-1, p12(DOC-1/CDK2AP1), with its homolog, p14(DOC-1R). Biochem. Biophys. Res. Commun. 315: 998-1003, 2004. [PubMed: 14985111] [Full Text: https://doi.org/10.1016/j.bbrc.2004.02.003]
Daigo, Y., Suzuki, K., Maruyama, O., Miyoshi, Y., Yasuda, T., Kabuto, T., Imaoka, S., Fujiwara, T., Takahashi, E., Fujino, M. A., Nakamura, Y. Isolation, mapping, and mutation analysis of a human cDNA homologous to the doc-1 gene of the Chinese hamster, a candidate tumor suppressor for oral cancer. Genes Chromosomes Cancer 20: 204-207, 1997. [PubMed: 9331572]
Todd, R., McBride, J., Tsuji, T., Donoff, R. B., Nagai, M., Chou, M. Y., Chiang, T., Wong, D. T. W. Deleted in oral cancer-1 (doc-1), a novel oral tumor suppressor gene. FASEB J. 9: 1362-1370, 1995. [PubMed: 7557027] [Full Text: https://doi.org/10.1096/fasebj.9.13.7557027]