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Gene Review

KEL  -  Kell blood group, metallo-endopeptidase

Homo sapiens

Synonyms: CD238, ECE3, Kell blood group glycoprotein
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High impact information on KEL

  • A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells [1].
  • An Nla III restriction fragment-length polymorphism within the KEL gene showed the Kpa/Kpa genotype in the propositus [1].
  • We have determined the molecular basis of the K1/K2 polymorphism by sequencing the 19 exons of the Kell gene (KEL) of a K1/K1 person [2].
  • The 5' flanking region of KEL from -176 does not contain a TATA sequence, but has possible GATA-1 binding sites and has significant promoter activity when determined by chloramphenicol acetyltransferase activity in K562 cells [3].
  • We determined the molecular basis of eight unrelated persons with Ko phenotypes by sequencing the coding and the intron-exon splice regions of KEL and, in some cases, analysis of mRNA transcripts and expression of mutants on the cell surface of transfected cells [4].

Biological context of KEL

  • Now we have isolated overlapping genomic clones and determined the exon-intron structure of the KEL gene; it spans approximately 21.5 kb with its coding sequence being organized in 19 exons that range in size from 63 bp to 288 bp [3].
  • The coding region of the KEL gene of the Ko individual showed a normal KEL2/KEL4/KEL7 gene sequence; nevertheless, a G to C mutation at the splice donor site (5' splice site) of intron 3 was found to be present as a homozygote in the individual [5].
  • In 2004 we introduced fetal typing from DNA in maternal plasma for K, Rhc, and RhE, which represent single nucleotide polymorphisms (SNPs) on the KEL and RHCE genes [6].
  • Regional chromosomal assignment of the Kell blood group locus (KEL) to chromosome 7q33-q35 by fluorescence in situ hybridization: evidence for the polypeptide nature of antigenic variation [7].
  • The molecular basis of four of the five sets of alleles has been described; point mutations in KEL leading to amino acid substitutions characterize the alleles [8].

Anatomical context of KEL

  • KEL expression in HeLa cells was performed further by primer-extension analysis, which revealed the presence of a low amount of Kell transcript correlating with basal expression of the Kell protein in these cells, as shown by immunopurification and Western-blot analysis [9].
  • In human tissues, KEL expression was investigated by dot-blot analysis and revealed high levels of Kell mRNAs, particularly in brain tissues, testis and lymphoid tissues [9].
  • One monoclonal antibody, 5A11 (IgGa, kappa), detects by immunoblotting a 93 and 184 kD component from KEL: 1,-2 or KEL: -1,2 red cell membrane preparations, separated by SDS polyacrylamide gel electrophoresis (PAGE) under non-reducing conditions [10].

Associations of KEL with chemical compounds

  • The exon 3 of the KEL gene encodes the transmembrane domain of the Kell glycoprotein, and a transcript without exon 3 is predicted to have a premature stop codon that abolishes the translation of C-terminal segment [5].
  • One allele contained an A to G substitution in intron 5 that changes the 3'-splice site of intron 5 from AAG to AGG, resulting in a reading frameshift by a single guanine insertion in KEL mRNA, and the other allele contained a single G to A substitution in exon 12 (codon 459) creating a termination codon [11].
  • RESULTS: A homozygous G865A mutation, encoding lysine instead of glutamic acid at amino acid position 249 of Kell protein, defines the RAZ phenotype, while a heterozygous G863A mutation in KEL, encoding an arginine to glutamine substitution at amino acid 248, characterizes the VLAN phenotype [12].
  • The remaining 25 polypeptides that were found exclusively on 1-D gels were proteins with high hydrophobicity (e.g., sorbitol dehydrogenase and glucose transporter) and high molecular mass (e.g., Kell blood group glycoprotein and Janus-kinase 2) [13].

Other interactions of KEL

  • BACKGROUND: Besides ABO and RH, the KEL blood group system, including the two antithetical antigens KEL1 and KEL2, is the most important owing to the frequent appearance of anti-KEL alloantibodies and their considerable clinical significance [14].
  • The 19 exons and the intron-exon regions of KEL from both probands were amplified by polymerase chain reaction, and the sequences were compared with that of common KEL [15].
  • Linkage relations of JK, CO, KEL and IGK with each other and with AHCY [16].
  • Genetic linkage analyses of the blood group system loci CO, DI, DO, KEL and YT in relation to F13B indicate that these loci are not members of the RCA gene cluster on chromosome 1q32 [17].
  • The Kell blood group locus (KEL) is tightly linked to the prolactin-inducible protein locus (PIP) with zeta = 9.12 at theta = 0.00 for combined paternal and maternal meioses [18].

Analytical, diagnostic and therapeutic context of KEL


  1. A combination of the effects of rare genotypes at the XK and KEL blood group loci results in absence of Kell system antigens from the red blood cells. Daniels, G.L., Weinauer, F., Stone, C., Ho, M., Green, C.A., Jahn-Jochem, H., Offner, R., Monaco, A.P. Blood (1996) [Pubmed]
  2. Molecular basis of the Kell (K1) phenotype. Lee, S., Wu, X., Reid, M., Zelinski, T., Redman, C. Blood (1995) [Pubmed]
  3. Organization of the gene encoding the human Kell blood group protein. Lee, S., Zambas, E., Green, E.D., Redman, C. Blood (1995) [Pubmed]
  4. Molecular defects underlying the Kell null phenotype. Lee, S., Russo, D.C., Reiner, A.P., Lee, J.H., Sy, M.Y., Telen, M.J., Judd, W.J., Simon, P., Rodrigues, M.J., Chabert, T., Poole, J., Jovanovic-Srzentic, S., Levene, C., Yahalom, V., Redman, C.M. J. Biol. Chem. (2001) [Pubmed]
  5. Molecular basis of the Kell-null phenotype: a mutation at the splice site of human KEL gene abolishes the expression of Kell blood group antigens. Yu, L.C., Twu, Y.C., Chang, C.Y., Lin, M. J. Biol. Chem. (2001) [Pubmed]
  6. Fetal blood group genotyping: present and future. Daniels, G., Finning, K., Martin, P., Summers, J. Ann. N. Y. Acad. Sci. (2006) [Pubmed]
  7. Regional chromosomal assignment of the Kell blood group locus (KEL) to chromosome 7q33-q35 by fluorescence in situ hybridization: evidence for the polypeptide nature of antigenic variation. Murphy, M.T., Morrison, N., Miles, J.S., Fraser, R.H., Spurr, N.K., Boyd, E. Hum. Genet. (1993) [Pubmed]
  8. The KEL24 and KEL14 alleles of the Kell blood group system. Lee, S., Naime, D., Reid, M., Redman, C. Transfusion (1997) [Pubmed]
  9. Transcriptional regulation of the KEL gene and Kell protein expression in erythroid and non-erythroid cells. Camara-Clayette, V., Rahuel, C., Lopez, C., Hattab, C., Verkarre, V., Bertrand, O., Cartron, J.P. Biochem. J. (2001) [Pubmed]
  10. Characterization of murine monoclonal antibodies directed against the Kell blood group glycoprotein. Jaber, A., Loirat, M.J., Willem, C., Bloy, C., Cartron, J.P., Blanchard, D. Br. J. Haematol. (1991) [Pubmed]
  11. Heterozygosity for two novel null alleles of the KEL gene causes the Kell-null phenotype in a Japanese woman. Koda, Y., Soejima, M., Tsuneoka, M., Yasumoto, K., Higashitani, T., Sagawa, K., Kimura, H. Br. J. Haematol. (2002) [Pubmed]
  12. Point mutations in KEL exon 8 determine a high-incidence (RAZ) and a low-incidence (KEL25, VLAN) antigen of the Kell blood group system. Lee, S., Reid, M.E., Redman, C.M. Vox Sang. (2001) [Pubmed]
  13. Separation of human erythrocyte membrane associated proteins with one-dimensional and two-dimensional gel electrophoresis followed by identification with matrix-assisted laser desorption/ionization-time of flight mass spectrometry. Low, T.Y., Seow, T.K., Chung, M.C. Proteomics (2002) [Pubmed]
  14. Genetic diversity of KELnull and KELel: a nationwide Austrian survey. Körmöczi, G.F., Wagner, T., Jungbauer, C., Vadon, M., Ahrens, N., Moll, W., Mühlbacher, A., Ozgül-Gülce, S., Kleinrath, T., Kilga-Nogler, S., Schönitzer, D., Gassner, C. Transfusion (2007) [Pubmed]
  15. Molecular basis of two novel high-prevalence antigens in the Kell blood group system, KALT and KTIM. Lee, S., Debnath, A.K., Wu, X., Scofield, T., George, T., Kakaiya, R., Yogore, M.G., Sausais, L., Yacob, M., Lomas-Francis, C., Reid, M.E. Transfusion (2006) [Pubmed]
  16. Linkage relations of JK, CO, KEL and IGK with each other and with AHCY. Bender, K., Bissbort, S., Crone, H., Senff, H., Steiert, A., Neumann, H., Koch, M., Nagel, M., Wienker, T.F. Hum. Hered. (1988) [Pubmed]
  17. Exclusion of unassigned blood group system loci from the regulator of complement activation gene cluster on chromosome 1q32. Lewis, M., Kaita, H., Philipps, S., McAlpine, P.J., Wong, P. Vox Sang. (1989) [Pubmed]
  18. Genetic linkage between the Kell blood group system and prolactin-inducible protein loci: provisional assignment of KEL to chromosome 7. Zelinski, T., Coghlan, G., Myal, Y., Shiu, R.P., Philipps, S., White, L., Lewis, M. Ann. Hum. Genet. (1991) [Pubmed]
  19. The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells. Lee, S., Zambas, E.D., Marsh, W.L., Redman, C.M. Blood (1993) [Pubmed]
  20. Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell blood group system. Lee, S., Wu, X., Reid, M., Redman, C. Transfusion (1995) [Pubmed]
  21. Additional red blood cell alloantibodies after blood transfusions in a nonhematologic alloimmunized patient cohort: is it time to take precautionary measures? Schonewille, H., van de Watering, L.M., Brand, A. Transfusion (2006) [Pubmed]
  22. Molecular basis of Kell blood group phenotypes. Lee, S. Vox Sang. (1997) [Pubmed]
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