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

    Gene ID: 3792, updated on 5-May-2013
    Official Symbol
    KELprovided by HGNC
    Official Full Name
    Kell blood group, metallo-endopeptidaseprovided by HGNC
    Primary source
    HGNC:6308
    See related
    Ensembl:ENSG00000197993; HPRD:00194; MIM:613883; Vega:OTTHUMG00000157159
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECE3; CD238
    Summary
    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]
    Location :
    7q33
    Sequence :
    Chromosome: 7; NC_000007.13 (142638201..142659503, complement)
    See KEL in Epigenomics

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene transient receptor potential cation channel, subfamily V, member 5 Neighboring gene chromosome 7 open reading frame 34 Neighboring gene olfactory receptor, family 9, subfamily A, member 2 Neighboring gene olfactory receptor, family 9, subfamily P, member 1 pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748.
    2. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461.
    4. Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification. Boturão-Neto E, et al. Transfusion, 2010 Mar. PMID 20609202.
    5. Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use. Di Cristofaro J, et al. J Mol Diagn, 2010 Jul. PMID 20431033.

    See all (33) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.
      Title: Novel IVS6-13C>T mutation recognized as a cause of discrepancy between phenotyping and genotyping in KEL*3,4 polymorphism identification.
    2. 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
      Title: Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype.
    3. This is the first description of the KEL*1,3 allele encoding KEL1 and KEL3 on the same molecule.
      Title: A novel KEL*1,3 allele with weak Kell antigen expression confirming the cis-modifier effect of KEL3.
    4. Observational study of genetic testing. (HuGE Navigator)
      Title: Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.
    5. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups.
    6. Kell K2 antigen is a catalytically active metalloprotease, but the rare Kell K1 antigen is inactive
      Title: 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.
    7. x-ray analysis of Kell blood group protein
      Title: Active amino acids of the Kell blood group protein and model of the ectodomain based on the structure of neutral endopeptidase 24.11.
    8. KEL6 red blood cells have endothelin-3-converting enzyme activity
      Title: Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group system.
    9. 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.
      Title: The Kell and XK proteins of the Kell blood group are not co-expressed in the central nervous system.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    P23276 P05305 EDN1    HPRD  PubMed  
    P23276 P20800 EDN2    HPRD  PubMed  
    P23276 P14138 EDN3    HPRD  PubMed  
    P23276 Q01844 EWSR1    HPRD  PubMed  
    P23276 P51811 XK    HPRD  PubMed  
    BioGRID:109993 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109993 BioGRID:108431 EWSR1    BioGRID  PubMed Two-hybrid 
    BioGRID:109993 BioGRID:113603 TUBA1A    BioGRID  PubMed Two-hybrid 
    BioGRID:109993 BioGRID:113164 UBC    BioGRID  PubMed Reconstituted Complex 

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    vasoconstriction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    integral to membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    kell blood group glycoprotein
    Names
    kell blood group glycoprotein
    kell blood group antigen
    NP_000411.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007492.1 RefSeqGene

      Range
      5001..26303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000420.2 → NP_000411.1  kell blood group glycoprotein

      Status: REVIEWED

      Source sequence(s)
      BC003135
      Consensus CDS
      CCDS34766.1
      UniProtKB/Swiss-Prot
      P23276
      Related
      ENSP00000347409, OTTHUMP00000211578, ENST00000355265, OTTHUMT00000347671
      Conserved Domains (2) summary
      COG3590
      Location:94 – 732
      Blast Score: 547
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
      cd08662
      Location:97 – 730
      Blast Score: 1207
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003571040.1 Reference GRCh37.p10 PATCHES

      Range
      1143861..1165163, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      142638201..142659503, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      136976490..136997792, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      142040072..142061375, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      146002182..146023484, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000106.1 (239569..260872) None
    genomic ABBA01034131.1 (55004..76306) None
    genomic AC099652.2 (10331..31633) None
    genomic AF172627.1 AAB33459.1
    genomic AF279657.1 AAK69488.1
    genomic AM183928.1 CAJ75457.1
    genomic AM183929.1 CAJ75458.1
    genomic AM183930.1 CAJ75459.1
    genomic AMYH01018007.1 (808422..829724) None
    genomic AY228336.1 AAO38053.1
    genomic CH236959.1 (916268..937571) None
    genomic CH471198.2 EAW51891.1
      EAW51892.1
      EAW51893.1
    genomic S80081.1 AAB47018.1
    mRNA AK314831.1 BAG37351.1
    mRNA AW294875.1 None
    mRNA BC003135.1 AAH03135.1
    mRNA BC050639.1 AAH50639.1
    mRNA FN998902.1 CBS91665.1
    mRNA HE572750.1 CCC42286.1
    mRNA M64934.2 AAA03192.1
    mRNA S76770.1 AAB33389.1
    other-genetic DQ896776.2 ABM87775.1
    other-genetic EU176416.1 ABW03867.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23276.2 GenPept UniProtKB/Swiss-Prot:P23276

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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