Property Summary

NCBI Gene PubMed Count 41
Grant Count 17
R01 Count 6
Funding $2,071,160.83
PubMed Score 370.96
PubTator Score 38.54

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -4.448 0.000

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.
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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
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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.
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