Property Summary

NCBI Gene PubMed Count 41
PubMed Score 370.96
PubTator Score 38.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -4.448 3.1e-08

Gene RIF (23)

PMID Text
26308465 The expression of Kell glycoprotein on RBCs is not critical to the erythrocyte function
25582271 Through molecular genotyping we also identified polymorphisms in RhCE, Kell, Duffy, Colton, Lutheran and Scianna loci in donors and patients.
25156717 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.
25041236 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.
24845979 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.
24795954 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.
24588083 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.
24506314 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.
23727116 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.
23721226 These findings identify the translational start site and define the full cytoplasmic tail of the human Kell glycoprotein.
23581578 Systematic DNA analysis showed that the number of discordant phenotype/genotype results, related to silent KEL*02 alleles was higher than expected in France.
20609202 Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.
20431033 Observational study of genetic testing. (HuGE Navigator)
19747286 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
19347978 This is the first description of the KEL*1,3 allele encoding KEL1 and KEL3 on the same molecule.
18510579 Observational study of genetic testing. (HuGE Navigator)
18187620 Knockdown of Kell blood group, metallo-endopeptidase (KEL) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
18067501 Observational study of genetic testing. (HuGE Navigator)
17379193 Results demonstrate the lack of Kell expression in rodent neuronal cells and strongly suggest the same for human cerebral tissue, in which the Kellprotein was exclusively observed on RBCs in cerebral blood vessels.
16423827 KEL6 red blood cells have endothelin-3-converting enzyme activity
15769748 Kell K2 antigen is a catalytically active metalloprotease, but the rare Kell K1 antigen is inactive
15754970 Observational study of genotype prevalence. (HuGE Navigator)
12842980 x-ray analysis of Kell blood group protein

AA Sequence

MEGGDQSEEEPRERSQAGGMGTLWSQESTPEERLPVEGSRPWAVARRVLTAILILGLLLCFSVLLFYNFQ      1 - 70
NCGPRPCETSVCLDLRDHYLASGNTSVAPCTDFFSFACGRAKETNNSFQELATKNKNRLRRILEVQNSWH     71 - 140
PGSGEEKAFQFYNSCMDTLAIEAAGTGPLRQVIEELGGWRISGKWTSLNFNRTLRLLMSQYGHFPFFRAY    141 - 210
LGPHPASPHTPVIQIDQPEFDVPLKQDQEQKIYAQIFREYLTYLNQLGTLLGGDPSKVQEHSSLSISITS    211 - 280
RLFQFLRPLEQRRAQGKLFQMVTIDQLKEMAPAIDWLSCLQATFTPMSLSPSQSLVVHDVEYLKNMSQLV    281 - 350
EEMLLKQRDFLQSHMILGLVVTLSPALDSQFQEARRKLSQKLRELTEQPPMPARPRWMKCVEETGTFFEP    351 - 420
TLAALFVREAFGPSTRSAAMKLFTAIRDALITRLRNLPWMNEETQNMAQDKVAQLQVEMGASEWALKPEL    421 - 490
ARQEYNDIQLGSSFLQSVLSCVRSLRARIVQSFLQPHPQHRWKVSPWDVNAYYSVSDHVVVFPAGLLQPP    491 - 560
FFHPGYPRAVNFGAAGSIMAHELLHIFYQLLLPGGCLACDNHALQEAHLCLKRHYAAFPLPSRTSFNDSL    561 - 630
TFLENAADVGGLAIALQAYSKRLLRHHGETVLPSLDLSPQQIFFRSYAQVMCRKPSPQDSHDTHSPPHLR    631 - 700
VHGPLSSTPAFARYFRCARGALLNPSSRCQLW                                          701 - 732
//

Text Mined References (47)

PMID Year Title
26308465 2015 Kell and Kx blood group systems.
25582271 2015 Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.
25156717 2015 Novel alleles at the Kell blood group locus that lead to Kell variant phenotype in the Dutch population.
25041236 2014 Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes.
24845979 2014 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.
24795954 2014 Three uncommon KEL alleles in one family with unusual Kell phenotypes explain a 35-year old conundrum.
24588083 2014 Identification of a novel Kmod -1 allele encoded by 977C>T (Pro326Leu).
24506314 2014 Two novel KEL alleles encoding K0 phenotypes in Brazilians.
23727116 2013 [A KEL*02mod allele responsible for an apparent maternity exclusion].
23721226 2013 Resolution of translation start site for the human Kell glycoprotein.
23581578 2013 Identification of novel silent KEL alleles causing KEL:-5 (Ko) phenotype or discordance between KEL:1,-2 phenotype/KEL*01/02 genotype.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
20609202 2010 Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.
20431033 2010 Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.
19747286 2009 Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype.
19347978 2009 A novel KEL*1,3 allele with weak Kell antigen expression confirming the cis-modifier effect of KEL3.
18510579 2008 Introduction of a real-time-based blood-group genotyping approach.
18067501 2008 Blood group genotyping for Jk(a)/Jk(b), Fy(a)/Fy(b), S/s, K/k, Kp(a)/Kp(b), Js(a)/Js(b), Co(a)/Co(b), and Lu(a)/Lu(b) with microarray beads.
17379193 2007 The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.
16423827 2006 Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group system.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15769748 2005 The Kell protein of the common K2 phenotype is a catalytically active metalloprotease, whereas the rare Kell K1 antigen is inactive. Identification of novel substrates for the Kell protein.
15754970 2004 Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
13477267 1957 A new Kell blood-group phenotype.
12842980 2003 Active amino acids of the Kell blood group protein and model of the ectodomain based on the structure of neutral endopeptidase 24.11.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11375401 2001 Molecular defects underlying the Kell null phenotype.
11336649 2001 Transcriptional regulation of the KEL gene and Kell protein expression in erythroid and non-erythroid cells.
11134029 2001 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.
10891471 2000 Expression of Kell blood group protein in nonerythroid tissues.
10620363 2000 Disulfide bonds in big ET-1 are essential for the specific cleavage at the Trp(21)-Val(22) bond by soluble endothelin converting enzyme-1 from baculovirus/insect cells.
10556484 1999 Intracellular assembly of Kell and XK blood group proteins.
10438732 1999 Proteolytic processing of big endothelin-3 by the kell blood group protein.
9647734 1998 Kell and Kx, two disulfide-linked proteins of the human erythrocyte membrane are phosphorylated in vivo.
9593744 1998 Association of XK and Kell blood group proteins.
9354821 1997 The KEL24 and KEL14 alleles of the Kell blood group system.
8669078 1996 Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles.
8652402 1996 Kell typing by allele-specific PCR (ASP).
7858266 1995 Organization of the gene encoding the human Kell blood group protein.
7849312 1995 Molecular basis of the Kell (K1) phenotype.
7737196 1995 Purification and partial characterization of the erythrocyte Kx protein deficient in McLeod patients.
7683930 1993 The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells.
7570911 1995 Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell blood group system.
2980265 1987 Recent developments in the Kell blood group system.
1712490 1991 Molecular cloning and primary structure of Kell blood group protein.