KEL
MCID: BLD141
MIFTS: 23

Blood Group--Kell System (KEL)

Categories: Blood diseases, Genetic diseases

Aliases & Classifications for Blood Group--Kell System

MalaCards integrated aliases for Blood Group--Kell System:

Name: Blood Group--Kell System 58
Blood Group--Kell-Cellano System 58
Blood Group System, Kell 41
Kell Blood Group System 30
Blood Group, Kell 58
Kell Blood Group 13
Kel 58

Classifications:



External Ids:

OMIM 58 110900

Summaries for Blood Group--Kell System

OMIM : 58 The Kell blood group system is formed by 2 disulfide-linked proteins, Kell and XK. The Kell protein is a type II membrane glycoprotein sharing sequence homology with members of the M13 family of zinc-dependent metalloproteases and possessing enzymatic activity characteristic of that group (summary by Claperon et al., 2007). The Kell blood group system is highly polymorphic, expressing over 25 antigens that have been classified in to 5 antithetical sets of high and low prevalence antigens with the others being independently expressed or having unknown antithetical partners. The different phenotypes are due to single-nucleotide mutations that result in an amino acid substitution (summary by Sha et al., 2006). See, for example, Kell (designated K or K1)/Cellano (k, K2) (T193M; 613883.0001). Yu et al. (2001) noted that the Kell antigens are the most potent immunogens aside from the A and B antigens of the ABO system (616093) and the D antigen (111680) of the Rh system (see 111700). (110900)

MalaCards based summary : Blood Group--Kell System, also known as blood group--kell-cellano system, is related to choreoacanthocytosis and chronic granulomatous disease. An important gene associated with Blood Group--Kell System is KEL (Kell Metallo-Endopeptidase (Kell Blood Group)). Affiliated tissues include testes, breast and b cells.

Related Diseases for Blood Group--Kell System

Diseases related to Blood Group--Kell System via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 choreoacanthocytosis 11.3
2 chronic granulomatous disease 11.3
3 granulomatous disease, chronic, x-linked 11.2
4 fetal erythroblastosis 11.2
5 colorectal adenoma 10.7
6 blood group, kidd system 10.3
7 hemoglobinopathy 10.3
8 prostate cancer 10.2
9 abetalipoproteinemia 10.1
10 mcleod syndrome 10.1
11 keratosis pilaris atrophicans 10.1
12 blood group, langereis system 10.0
13 alpha-thalassemia 10.0
14 granulomatosis with polyangiitis 10.0
15 blood group, junior system 10.0
16 thalassemia 10.0
17 sickle cell disease 10.0
18 anemia, autoimmune hemolytic 10.0
19 melnick-needles syndrome 10.0
20 hemolytic anemia 10.0

Graphical network of the top 20 diseases related to Blood Group--Kell System:



Diseases related to Blood Group--Kell System

Symptoms & Phenotypes for Blood Group--Kell System

Clinical features from OMIM:

110900

Drugs & Therapeutics for Blood Group--Kell System

Search Clinical Trials , NIH Clinical Center for Blood Group--Kell System

Genetic Tests for Blood Group--Kell System

Genetic tests related to Blood Group--Kell System:

# Genetic test Affiliating Genes
1 Kell Blood Group System 30 KEL

Anatomical Context for Blood Group--Kell System

MalaCards organs/tissues related to Blood Group--Kell System:

42
Testes, Breast, B Cells, Prostate

Publications for Blood Group--Kell System

Articles related to Blood Group--Kell System:

(show top 50) (show all 62)
# Title Authors Year
1
A novel c.1664G > T(p.Gly555Val) mutation in the KEL gene encoding the Kmod phenotype. ( 31077392 )
2019
2
Silent KEL alleles identified from Japanese individuals with the Ko phenotype. ( 29280152 )
2018
3
Transfused platelets enhance alloimmune responses to transfused KEL-expressing red blood cells in a murine model. ( 30418129 )
2018
4
A novel KEL silencing allele in a Brazilian patient with anti-Ku. ( 27888518 )
2017
5
B cells require Type 1 interferon to produce alloantibodies to transfused KEL-expressing red blood cells in mice. ( 28836263 )
2017
6
Ethnopharmacological studies of indigenous plants in Kel village, Neelum Valley, Azad Kashmir, Pakistan. ( 29191238 )
2017
7
Clinically significant anti-KEL RBC alloantibodies are transferred by breast milk in a murine model. ( 26950259 )
2016
8
New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes. ( 26996808 )
2016
9
Antigen modulation as a potential mechanism of anti-KEL immunoprophylaxis in mice. ( 27688803 )
2016
10
454-Sequencing™ for the KEL, JR, and LAN Blood Groups. ( 26024631 )
2015
11
Anti-KEL sera prevents alloimmunization to transfused KEL RBCs in a murine model. ( 26185172 )
2015
12
Transfusion of murine red blood cells expressing the human KEL glycoprotein induces clinically significant alloantibodies. ( 23621760 )
2014
13
Two novel KEL alleles encoding K0 phenotypes in Brazilians. ( 24506314 )
2014
14
Three uncommon KEL alleles in one family with unusual Kell phenotypes explain a 35-year old conundrum. ( 24795954 )
2014
15
Three missense mutations found in the KEL gene lead to K(mod) or K0 red blood cell phenotypes. ( 25041236 )
2014
16
Probing the different spatial scales of Kel F-800 polymeric glass under pressure. ( 23411501 )
2013
17
Identification of novel silent KEL alleles causing KEL:-5 (Ko) phenotype or discordance between KEL:1,-2 phenotype/KEL*01/02 genotype. ( 23581578 )
2013
18
An easy and efficient strategy for KEL genotyping in a multiethnic population. ( 23741186 )
2013
19
Alloantibodies to a paternally derived RBC KEL antigen lead to hemolytic disease of the fetus/newborn in a murine model. ( 23801629 )
2013
20
Acoustic properties of Kel F-800 copolymer up to 85 GPa. ( 22779672 )
2012
21
Identification of RHCE and KEL alleles in large cohorts of Afro-Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patients. ( 21623766 )
2011
22
Genetic and functional analyses describe a novel 730delG mutation in the KEL gene causing K0 phenotype in a Taiwanese blood donor. ( 21707797 )
2011
23
KEL*02 alleles with alterations in and around exon 8 in individuals with apparent KEL:1,-2 phenotypes. ( 20384970 )
2010
24
Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification. ( 20609202 )
2010
25
A novel KEL*1,3 allele with weak Kell antigen expression confirming the cis-modifier effect of KEL3. ( 19347978 )
2009
26
Changes in red cell ion transport, reduced intratumoral neovascularization, and some mild motor function abnormalities accompany targeted disruption of the Mouse Kell gene (Kel). ( 19544475 )
2009
27
Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype. ( 19747286 )
2009
28
Molecular studies reveal a concordant KEL genotyping between patients with hemoglobinopathies and blood donors in Sao Paulo City, Brazil. ( 18603556 )
2008
29
Frequencies of KEL*29 (KALT) and KEL*30 (KTIM) alleles in blood donors and patients with hemoglobinopathies in Brazil. ( 17655604 )
2007
30
KEL-8 is a substrate receptor for CUL3-dependent ubiquitin ligase that regulates synaptic glutamate receptor turnover. ( 16394099 )
2006
31
Evaluation of buparvaquone (BUTA-Kel KELA, Belgium) as a treatment of East Coast fever in cattle, in the peri-urban of Dar Es Salaam city, Tanzania. ( 16567050 )
2006
32
A KEL gene encoding serine at position 193 of the Kell glycoprotein results in expression of KEL1 antigen. ( 17076841 )
2006
33
Anti-KEL7 (anti-Js(b)) alloimmunization diagnostic supported by molecular KEL*6,7 typing in a pregnant woman with previous intrauterine deaths. ( 17097348 )
2006
34
Kel-F discs improve storage time of canopy air samples in 10-mL vials for CO2-delta13C analysis. ( 15282795 )
2004
35
In vitro and short-term in vivo characteristics of a Kel-F thin film modified glucose sensor. ( 14640443 )
2003
36
Heterozygosity for two novel null alleles of the KEL gene causes the Kell-null phenotype in a Japanese woman. ( 11918559 )
2002
37
Blood group antigen profile predicted by molecular biology-use of real-time polymerase chain reaction to genotype important KEL, JK,RHD, and RHCE alleles. ( 15373552 )
2002
38
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. ( 11134029 )
2001
39
Transcriptional regulation of the KEL gene and Kell protein expression in erythroid and non-erythroid cells. ( 11336649 )
2001
40
Comparison of the hanson microette and the Van Kel apparatus for in vitro release testing of topical semisolid formulations. ( 11697470 )
2001
41
Point mutations in KEL exon 8 determine a high-incidence (RAZ) and a low-incidence (KEL25, VLAN) antigen of the Kell blood group system. ( 11904003 )
2001
42
Differentiation of autologous ABO, RHD, RHCE, KEL, JK, and FY blood group genotypes by analysis of peripheral blood samples of patients who have recently received multiple transfusions. ( 10960520 )
2000
43
The mouse Kell blood group gene (Kel): cDNA sequence, genomic organization, expression, and enzymatic function. ( 11132157 )
2000
44
The Kell blood group system: Kell and XK membrane proteins. ( 10791880 )
2000
45
kel-1, a novel Kelch-related gene in Caenorhabditis elegans, is expressed in pharyngeal gland cells and is required for the feeding process. ( 10421842 )
1999
46
Development of a PCR-based diagnostic assay for the determination of KEL genotype in donor blood samples. ( 8809961 )
1996
47
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. ( 8916972 )
1996
48
Female sexuality, social reproduction, and the politics of medical intervention in Niger: Kel Ewey Tuareg perspectives. ( 7712779 )
1994
49
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. ( 8340113 )
1993
50
Blood is hotter than water: popular use of hot and cold in Kel Tamasheq illness management. ( 8456337 )
1993

Variations for Blood Group--Kell System

Expression for Blood Group--Kell System

Search GEO for disease gene expression data for Blood Group--Kell System.

Pathways for Blood Group--Kell System

GO Terms for Blood Group--Kell System

Sources for Blood Group--Kell System

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