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KEL Gene

protein-coding   GIFtS: 62
GCID: GC07M142638

Kell Blood Group, Metallo-Endopeptidase

(Previous names: Kell blood group, Kell blood group, metalloendopeptidase)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Kell Blood Group, Metallo-Endopeptidase1 2     Kell Blood Group Antigen2
Kell Blood Group1     Kell Blood Group Glycoprotein2
Kell Blood Group, Metalloendopeptidase1     EC 3.4.24.-3
CD2382     CD238 Antigen3
ECE32     

External Ids:    HGNC: 63081   Entrez Gene: 37922   Ensembl: ENSG000001979937   OMIM: 6138835   UniProtKB: P232763   

Export aliases for KEL gene to outside databases

Previous GC identifers: GC07M140964 GC07M142032 GC07M142109 GC07M142155 GC07M142348 GC07M136976


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KEL Gene:
This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen.
The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen.
The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc
endopeptidases. (provided by RefSeq, Jul 2008)

GeneCards Summary for KEL Gene:
KEL (Kell blood group, metallo-endopeptidase) is a protein-coding gene. Diseases associated with KEL include fetal erythroblastosis, and erysipelas. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is PHEX.

UniProtKB/Swiss-Prot: KELL_HUMAN, P23276
Function: Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a
marked preference for EDN3




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NT_187562.1  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KEL gene promoter:
         C/EBPbeta   Bach2   NRSF form 1   Lmo2   NRSF form 2   Egr-4   Evi-1   GATA-6   SEF-1 (1)   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKEL promoter sequence
   Search Chromatin IP Primers for KEL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KEL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q33

KEL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KEL gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M142638:  view genomic region     (about GC identifiers)

Start:
142,638,201 bp from pter      End:
142,659,768 bp from pter
Size:
21,568 bases      Orientation:
minus strand

2 alternative locations:
Chr7-,CRA_TCAG 142,040,072-142,061,375      Chr7-,NW_003571040 1,143,861-1,165,163     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KELL_HUMAN, P23276 (See protein sequence)
Recommended Name: Kell blood group glycoprotein  
Size: 732 amino acids; 82824 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Subunit: Heterodimer with XK; disulfide-linked
Secondary accessions: B2RBV4 Q96RS8 Q99885

Explore the universe of human proteins at neXtProt for KEL: NX_P23276

Explore proteomics data for KEL at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn94, Asn115, Asn191, Asn345, Asn627
  • Modification sites at PhosphoSitePlus

  • See KEL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000411.1  
    ENSEMBL proteins: 
     ENSP00000347409   ENSP00000419889   ENSP00000420011   ENSP00000418886  

    KEL Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    bloodgroup: Blood group antigens

    3 InterPro protein domains:
     IPR000718 Peptidase_M13
     IPR018497 Peptidase_M13_C
     IPR008753 Peptidase_M13_N

    Graphical View of Domain Structure for InterPro Entry P23276

    ProtoNet protein and cluster: P23276

    2 Blocks protein domains:
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


    UniProtKB/Swiss-Prot: KELL_HUMAN, P23276
    Similarity: Belongs to the peptidase M13 family


    KEL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KELL_HUMAN, P23276
    Function: Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a
    marked preference for EDN3

         Enzyme Number (IUBMB): EC 3.4.24.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IDA15769748
    GO:0005515protein binding IPI7737196
    GO:0046872metal ion binding IEA--
         
    KEL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KEL:
     Decreased p24 protein expressi 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KEL
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KEL
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    1 qRT-PCR Assays for microRNA that regulate KEL:
    hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidKEL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KEL

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KEL

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KEL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KELL_HUMAN, P23276: Cell membrane; Single-pass type II membrane protein. Note=Spans the erythrocyte membrane,
    and is attached to the underlying cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane TAS9647734

    KEL for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KEL
    Interactions:

        GeneGlobe Interaction Network for KEL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for KEL (P232762, 3 ENSP000003474094) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TUBA1AQ71U362, 3, ENSP000003010714MINT-8259150 I2D: score=2 STRING: ENSP00000301071
    XKP518113, ENSP000003678794I2D: score=2 STRING: ENSP00000367879
    EDN1P053053, ENSP000003686834I2D: score=1 STRING: ENSP00000368683
    EDN2P208003, ENSP000003616684I2D: score=2 STRING: ENSP00000361668
    EDN3P141383, ENSP000003371284I2D: score=1 STRING: ENSP00000337128
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0042310vasoconstriction TAS15769748

    KEL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KEL (KELL)

    1 Novoseek inferred chemical compound relationship for KEL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloramphenicol 32.2 3 7858266 (1), 11336649 (1)



    KEL for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KEL gene: 
    NM_000420.2  

    Unigene Cluster for KEL:

    Kell blood group, metallo-endopeptidase
    Hs.368588  [show with all ESTs]
    Unigene Representative Sequence: BC003135
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355265(uc003wcb.3) ENST00000470850 ENST00000478969 ENST00000465697
    ENST00000479768 ENST00000494148 ENST00000476829 ENST00000467543 ENST00000460479

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KEL using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KEL:
    hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidKEL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for KEL
    Predesigned siRNA for gene silencing in human, mouse, rat KEL
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    GenScript: all cDNA clones in your preferred vector: KEL (NM_000420)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KEL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KEL
    Primer
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    OriGene qPCR primer pairs and template standards for KEL
    OriGene qSTAR qPCR primer pairs in human, mouse for KEL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KEL
      QuantiTect SYBR Green Assays in human, mouse, rat KEL
      QuantiFast Probe-based Assays in human, mouse, rat KEL

    Additional mRNA sequence: 

    AK314831.1 BC003135.1 BC050639.1 FN998902.1 HE572750.1 M64934.2 

    5 DOTS entries:

    DT.413318  DT.413320  DT.95232563  DT.91667483  DT.121107654 

    Selected AceView cDNA sequences (see all 44):

    AL040742 BX089674 BC050639 NM_000420 BM554115 BI831690 BC003135 AW955759 
    M64934 BF995823 AL602009 AW294875 AL040784 H62971 AU120607 AI076828 
    BE302724 AA333985 T55061 AA781922 BE207538 AA860253 R98067 BF082447 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KEL (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18a ·
    SP1:              -                                               -                                                                                             
    SP2:                                                                                                                                                            
    SP3:              -                                                                                                                                             
    SP4:                                                                                                                                                            
    SP5:                                                              -                 -                                                                           

    ExUns: 18b ^ 19
    SP1:            
    SP2:  -         
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for KEL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KEL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAATCAGAGC
    KEL Expression
    About this image


    KEL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     NULL (Uncategorized)    fully expand to see all 3 entries
             Mesoderm-like cells
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
     
     Spleen (Hematopoietic System)
    KEL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KEL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368588

    UniProtKB/Swiss-Prot: KELL_HUMAN, P23276
    Tissue specificity: Expressed at high levels in erythrocytes and testis (in Sertoli cells), and, at lower levels,
    in skeletal muscle, tonsils (in follicular dendritic cells), lymph node, spleen and appendix (at protein level).
    Also expressed in many adult and fetal nonerythroid tissues, including brain, spleen, lymph nodes and bone marrow

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    QuantiFast Probe-based Assays in human, mouse, rat KEL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KEL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for KEL gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kel1 , 5 Kell blood group1, 5 80.18(n)1
    74.19(a)1
      6 (19.86 cM)5
    239251  NM_032540.31  NP_115929.31 
     416863305 
    chicken
    (Gallus gallus)
    Aves KEL1 Kell blood group, metallo-endopeptidase 53.36(n)
    44.18(a)
      418306  XM_416529.4  XP_416529.4 
    lizard
    (Anolis carolinensis)
    Reptilia KEL6
    Kell blood group, metallo-endopeptidase
    40(a)
    1 ↔ 1
    GL343391.1(327711-391880)
    zebrafish
    (Danio rerio)
    Actinopterygii KEL6
    Kell blood group, metallo-endopeptidase
    24(a)
    1 ↔ 1
    16(19324727-19362077) ENSDARG00000076950
    fruit fly
    (Drosophila melanogaster)
    Insecta Nep36
    Neprilysin 3
    25(a)
    1 → many
    X(19855330-19862712)
    worm
    (Caenorhabditis elegans)
    Secernentea nep-176
    Protein NEP-17, isoform a (nep-17) mRNA, complete ...
    9(a)
    many ↔ many
    II(13507819-13516481) WBGene00010070


    ENSEMBL Gene Tree for KEL (if available)
    TreeFam Gene Tree for KEL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KEL gene
    PHEX2  MME2  ECE22  ECE12  MMEL12  ECEL12  
    3 SIMAP similar genes for KEL using alignment to 41 protein entries:     KELL_HUMAN (see all proteins):
    MMEL1    ECE2    ECE1

    KEL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    KELL_HUMAN, P23276: KEL is responsible for the Kell blood group system. The molecular basis of the K=KEL1/k=KEL2 blood
    group antigens is a single variation in position 193; Thr-193 corresponds to KEL2 and Met-193 to KEL1. The
    molecular basis of the Kpa=KEL3/Kpb=KEL4/Kpc=KEL21 blood group antigens is a single variation in position 281;
    Arg-281 corresponds to KEL4, Trp-281 to KEL3 and Gln-281 to KEL21. The molecular basis of the Jsa=KEL6/Jsb=KEL7
    blood group antigens is a single variation in position 597; Leu-597 corresponds to KEL7 and Pro-597 to KEL6. The
    molecular basis of the KEL11/KEL17 blood group antigens is a single variation in position 302; Val-302
    corresponds to KEL11 and Ala-302 to KEL17. The molecular basis of the KEL14/KEL24 blood group antigens is a
    single variation in position 180; Arg-180 corresponds to KEL14 and Pro-180 to KEL24


    Selected SNPs for KEL (see all 664)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81760391,2
    C,F,A,Huntested1146003985(+) TTCTCC/TAAGAA 2 L syn124Minor allele frequency- G:0.02NS EA NA WA CSA EU 7933
    rs617290331,2
    Cuntested1146004614(-) TGACCA/GTGTGG 2 H R mis11Minor allele frequency- G:0.00EU 1323
    rs81760341,2
    C,F,Huntested1146004897(-) CCCTCA/C/TGAGCT 2 R * stg18NS EA NA EU 6373
    rs617290321,2,,4
    Cuntested1146005401(-) ACAAGA/TATACA 2 E V mis10--------
    rs617290501,2
    Cuntested1146005405(-) CCCGAA/C/TAAGAA 2 Q * stg10--------
    rs617290351,2,,4
    C,Funtested1146005407(-) GGCCCG/AACAAG 2 /Q /R mis11Minor allele frequency- A:0.00NA 4552
    rs617288311,2
    Cuntested1146007321(-) GCTGGC/TGGCTT 2 A V mis11Minor allele frequency- T:0.00NA 4514
    rs617290551,2
    Cuntested1146013692(-) GCAGAA/GCCACA 2 N S mis10--------
    rs617290541,2
    Cuntested1146014907(-) TGTCAC/G/TAACTG 2 Q * stg11NA 4552
    rs617290371,2
    Cuntested1146014984(-) GCAAGC/TGACAT 2 A V mis11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for KEL (142638201 - 142659768 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KEL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv520735CNV Loss19592680
    nsv889274CNV Loss21882294
    nsv526015CNV Gain19592680
    nsv831168CNV Gain17160897
    dgv2145e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): KEL
    Locus Specific Mutation Databases (LSDB): KEL

    Blood Group Antigen Gene Mutation Database (BGMUT) blood group system
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KEL
    DNA2.0 Custom Variant and Variant Library Synthesis for KEL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613883   
    OMIM disorders: 110900  
    16 diseases for KEL:    
    About MalaCards
    fetal erythroblastosis    erysipelas    tinea corporis    scabies
    carbuncle    neuroacanthocytosis    acute chest syndrome    chronic granulomatous disease
    autoimmune hemolytic anemia    hemolytic anemia    protein s deficiency    tonsillitis
    pneumonia    tuberculosis    hiv-1    cerebritis

    1 disease from the University of Copenhagen DISEASES database for KEL:
    Neuroacanthocytosis

    KEL for disorders           About GeneDecksing

    Genetic Association Database (GAD): KEL
    Human Genome Epidemiology (HuGE) Navigator: KEL (7 documents)

    Export disorders for KEL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for KEL gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with KEL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and primary structure of Kell blood group protein. (PubMed id 1712490)1, 2, 3 Lee S.... Redman C.M. (Proc. Natl. Acad. Sci. U.S.A. 1991)
    2. Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles. (PubMed id 8669078)1, 2, 9 Lee S....Redman C.M. (Transfusion 1996)
    3. Organization of the gene encoding the human Kell blood group protein. (PubMed id 7858266)1, 2, 9 Lee S.... Redman C.M. (Blood 1995)
    4. Molecular basis of the K:6,-7 [Js(a+b-)] phenotype in the Kell blood group system. (PubMed id 7570911)1, 2, 9 Lee S.... Redman C.M. (Transfusion 1995)
    5. Molecular basis of the Kell (K1) phenotype. (PubMed id 7849312)1, 2, 9 Lee S.... Redman C.M. (Blood 1995)
    6. The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells. (PubMed id 7683930)1, 3, 9 Lee S....Redman C.M. (Blood 1993)
    7. Introduction of a real-time-based blood-group genotyping approach. (PubMed id 18510579)1, 4 Polin H....Gabriel C. (Vox Sang. 2008)
    8. Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups. (PubMed id 15754970)1, 4 Chiaroni J....BoAtsch G. (Hum. Biol. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Proteolytic processing of big endothelin-3 by the kell blood group protein. (PubMed id 10438732)1, 2 Lee S.... Redman C. (Blood 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 3792 HGNC: 6308 AceView: KEL Ensembl:ENSG00000197993 euGenes: HUgn3792
    ECgene: KEL H-InvDB: KEL

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KEL Pharmacogenomics, SNPs, Pathways
    dbRBC/BGMUThttp://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=kell
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/500829/
    SeattleSNPshttp://pga.gs.washington.edu/data/kel/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KEL gene:
    Search GeneIP for patents involving KEL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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