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    KEL Kell metallo-endopeptidase (Kell blood group) [ Homo sapiens (human) ]

    Gene ID: 3792, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci.

    Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci.
    Wu PC, McGowan EC, Lee YQ, Ghosh S, Hansson J, Olsson ML.

    06/10/2024
    Novel KEL allele associated with loss of Kp(b) identified in a white blood donor.

    Novel KEL allele associated with loss of Kp(b) identified in a white blood donor.
    Yearout S, Smith A, Keller J, Keller MA.

    07/30/2022
    Functional Evaluation of KEL as an Oncogenic Gene in the Progression of Acute Erythroleukemia.

    Functional Evaluation of KEL as an Oncogenic Gene in the Progression of Acute Erythroleukemia.
    Liu W, Wu Z, Yu Y, Qiao C, Zhu H, Hong M, Zhu Y, Qian S, Chen S, Wu D, Li J, Jin H., Free PMC Article

    03/19/2022
    Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K0 ) phenotype.

    Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K(0) ) phenotype.
    Albasri J, Alsuhaibani O, Almarry N, Ochoa-Garay G, Bensing KM, Biese D, Knier M, Denomme GA.

    08/14/2021
    HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.

    HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.
    De Souza CP, Baleotti W, Moritz E, Sanches S, Lopes LB, Chiba AK, Donadi EA, Bordin JO.

    07/31/2021
    Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

    Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
    Dinardo CL, Oliveira TGM, Kelly S, Ashley-Koch A, Telen M, Schmidt LC, Castilho S, Melo K, Dezan MR, Wheeler MM, Johnsen JM, Nickerson DA, Jain D, Custer B, Pereira AC, Sabino EC, NHLBI Recipient Epidemiology Donor Evaluation Study (REDS-III) International Component-Brazil, the Outcome Modifying Genes in SCD (OMG) study and the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program Sickle Cell Disease Working Group.

    07/10/2021
    Identification of a novel null allele of the KEL gene in a Korean patient with the Kell null phenotype.

    Identification of a novel null allele of the KEL gene in a Korean patient with the Kell null phenotype.
    Kim TY, Kim H, Hong YJ, Park KU.

    06/26/2021
    Leucoreduced red blood cells from transgenic mouse donors expressing high levels of the human KEL glycoprotein in an erythrocyte-specific manner (KEL(hi) donors) were transfused after the platelets, and anti-KEL responses were measured. Transfusion of platelets from wild-type C57BL/6 donors prior to KELhi red blood cell transfusion enhances the anti-KEL alloimmune response.

    Transfused platelets enhance alloimmune responses to transfused KEL-expressing red blood cells in a murine model.
    Madrid DJ, Santhanakrishnan M, Liu J, Gibb DR, Liu D, Natarajan P, Beitler D, Shi Z, Mo C, Tormey CA, Patel SR, Stowell SR, Hendrickson JE., Free PMC Article

    03/7/2020
    Ten new silent KEL alleles were identified in Japanese individuals with the Ko phenotype.

    Silent KEL alleles identified from Japanese individuals with the K(o) phenotype.
    Onodera T, Kawai M, Obara K, Enomoto T, Sasaki K, Osabe T, Ogasawara K, Toyoda C, Tsuneyama H, Uchikawa M, Inaba S, Satake M.

    09/1/2018
    description of four new KEL*01M alleles

    New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes.
    Silvy M, Callebaut I, Filosa L, Granier T, Chiaroni J, Bailly P.

    07/1/2017
    The expression of Kell glycoprotein on RBCs is not critical to the erythrocyte function

    Kell and Kx blood group systems.
    Denomme GA.

    11/14/2015
    Through molecular genotyping we also identified polymorphisms in RhCE, Kell, Duffy, Colton, Lutheran and Scianna loci in donors and patients.

    Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.
    Belsito A, Costa D, Fiorito C, De Iorio G, Casamassimi A, Perrotta S, Napoli C.

    09/26/2015
    A relatively increased KEL1 antigen expression in KEL:1,2null and KEL:1,2mod individuals suggest that the expression of Kell-XK complexes depends on the availability of the XK protein.

    Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population.
    Ji Y, Veldhuisen B, Ligthart P, Haer-Wigman L, Jongerius J, Boujnan M, Ait Soussan A, Luo G, Fu Y, van der Schoot CE, de Haas M.

    04/11/2015
    High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.

    High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.
    Meyer S, Vollmert C, Trost N, Brönnimann C, Gottschalk J, Buser A, Frey BM, Gassner C.

    02/14/2015
    After sequencing the whole KEL gene, we found three new missense mutations: c.455A>G (p.Tyr152Cys) at Exon 5, c.2111A>C (p.Pro704His) at Exon 19, and c.1726G>C (p.Gly576Arg) at Exon 16.

    Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes.
    Matteocci A, Mancuso T, Moscetti A, Collaretti A, Castagna K, Spaccino C, Hutchinson T, Grammatico P, Pierelli L.

    02/14/2015
    A new allele, KEL(Thr193Met, Pro326Leu), has a drastic effect on the Kell glycoprotein probably due to defects in protein trafficking or reduced membrane integration.

    Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
    Polin H, Gaszner W, Suessner S, Danzer M, Gabriel C.

    10/18/2014
    Sequence analysis of genomic DNA from 2 Caucasian Brazilian women revealed a new homozygous change in KEL Exon 2, a guanine to an adenine substitution at Position 71 (c.71G>A, NCBI_ss#: 831878329) leading to a premature stop codon.

    Two novel KEL alleles encoding K0 phenotypes in Brazilians.
    Arnoni CP, Gazito D, Muniz JG, Person Rde M, Brandão F, Marques MG, Barreto JA, Castilho L, Latini FR.

    10/18/2014
    A compensatory mechanism of the KELmod allele deficient expression in heterozygote patients may exist. Retrospective analysis of 80,000 subjects showed a local KEL:1,-2 frequency 4 times lower than expected.

    [A KEL*02mod allele responsible for an apparent maternity exclusion].
    Monfort M, Peyrard T, Arnaud L, Helias V, Maggipinto G, Gérard C.

    07/26/2014
    A rare allele in this family has been numbered KEL*02M.04 and contains a Gly703Arg substitution that appears to cause weakened expression of Kell antigens and a Kmod phenotype when in trans with a null allele in the propositus.

    Three uncommon KEL alleles in one family with unusual Kell phenotypes explain a 35-year old conundrum.
    Karamatic Crew V, Poole J, Burton N, Daniels G.

    06/7/2014
    Systematic DNA analysis showed that the number of discordant phenotype/genotype results, related to silent KEL*02 alleles was higher than expected in France.

    Identification of novel silent KEL alleles causing KEL:-5 (Ko) phenotype or discordance between KEL:1,-2 phenotype/KEL*01/02 genotype.
    Martin-Blanc S, Simon P, Gien D, Kappler-Gratias S, Le Pennec PY, Pham BN.

    02/1/2014
    These findings identify the translational start site and define the full cytoplasmic tail of the human Kell glycoprotein.

    Resolution of translation start site for the human Kell glycoprotein.
    Blacken GR, Zimring JC, Fu X.

    02/1/2014
    Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.

    Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.
    Boturão-Neto E, Chiba AK, Bordin JO.

    08/2/2010
    In screening 87665 unrelated healthy blood donors in China, two K(0) probands were detected; in exon 3, 185insT (Ser62Phe and a premature stop codon in exon 4

    Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype.
    Yang Y, Wang L, Wang C, Chen H, Guo Z, Zhang Y, Zhu Z.

    01/21/2010
    This is the first description of the KEL*1,3 allele encoding KEL1 and KEL3 on the same molecule.

    A novel KEL*1,3 allele with weak Kell antigen expression confirming the cis-modifier effect of KEL3.
    Körmöczi GF, Scharberg EA, Gassner C.

    01/21/2010
    Observational study of genetic testing. (HuGE Navigator)See all PubMed (3) articles03/13/2008
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