Alternative titles; symbols
HGNC Approved Gene Symbol: CD48
Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:160,678,746-160,711,822 (from NCBI)
BLAST1 is the designation used for an activation-associated cell surface glycoprotein of 40 to 45 kD expressed primarily in mitogen-stimulated human lymphocytes. The protein sequence predicted by the cDNA encoding BLAST1 indicates that BLAST1 is a member of the immunoglobulin supergene family. Yokoyama (1991) identified the BLAST1 activation/adhesion molecule as CD48.
Using recombinant human natural killer (NK) cell-activating ligand 2B4 (605554) fused to domains 3 and 4 of rodent Cd4 (186940) and flow cytometric analysis, Brown et al. (1998) demonstrated that CD48 binds to 2B4. BIAcore surface plasmon resonance analysis showed that the affinity of CD48 for 2B4 is approximately 10-fold higher than that shown for CD48 and CD2 (186990).
Tangye et al. (2000) found that 2B4-expressing NK cells from normal individuals had greater cytolytic activity against CD48-expressing targets than those of patients with X-linked lymphoproliferative disease (XLPD; 308240). The authors pointed out that CD48 was originally identified as an antigen whose expression is at least 10-fold greater on Epstein Barr virus (EBV)-transformed cells than on EBV-negative cells (Thorley-Lawson et al., 1982). Patients with mutations in the XLPD disease gene, SAP (300490), which interacts with 2B4, are extremely susceptible to EBV infection.
By Southern blot analysis of somatic cell hybrids, Barton et al. (1987) determined that the BLAST1 gene is located in the region 1cen-q32. In the course of constructing a physical map of human 1q21-q23, Oakey et al. (1992) determined that CD48 is located in the mid-portion of this segment.
Barton, D. E., Staunton, D., Francke, U. The gene for BLAST1, encoding a B-cell activation marker, is located on chromosome 1, region cen-q32. (Abstract) Cytogenet. Cell Genet. 46: 577 only, 1987.
Brown, M. H., Boles, K., van der Merwe, P. A., Kumar, V., Mathew, P. A., Barclay, A. N. 2B4, the natural killer and T cell immunoglobulin superfamily surface protein, is a ligand for CD48. J. Exp. Med. 188: 2083-2093, 1998. [PubMed: 9841922] [Full Text: https://doi.org/10.1084/jem.188.11.2083]
Oakey, R. J., Watson, M. L., Seldin, M. F. Construction of a physical map on mouse and human chromosome 1: comparison of 13 Mb of mouse and 11 Mb of human DNA. Hum. Molec. Genet. 1: 613-620, 1992. [PubMed: 1301170] [Full Text: https://doi.org/10.1093/hmg/1.8.613]
Tangye, S. G., Phillips, J. H., Lanier, L. L., Nichols, K. E. Cutting edge: functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome. J. Immun. 165: 2932-2936, 2000. [PubMed: 10975798] [Full Text: https://doi.org/10.4049/jimmunol.165.6.2932]
Thorley-Lawson, D. A., Schooley, R. T., Bhan, A. K., Nadler, L. M. Epstein-Barr virus superinduces a new human cell differentiation antigen (B-LAST 1) expressed on transformed lymphoblasts. Cell 30: 415-425, 1982. [PubMed: 6291768] [Full Text: https://doi.org/10.1016/0092-8674(82)90239-2]
Yokoyama, S. Expression of the Blast-1 (BCM1) activation/adhesion molecule and its identification as CD48. J. Immun. 146: 2191-2200, 1991.