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

    Gene ID: 3792, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KELprovided by HGNC
    Official Full Name
    Kell metallo-endopeptidase (Kell blood group)provided by HGNC
    Primary source
    HGNC:HGNC:6308
    See related
    Ensembl:ENSG00000197993 MIM:613883; AllianceGenome:HGNC:6308
    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; Kell; 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]
    Expression
    Biased expression in testis (RPKM 20.5), bone marrow (RPKM 20.3) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KEL in Genome Data Viewer
    Location:
    7q34
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142941114..142962363, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144296525..144394915, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (142638201..142659450, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375542 Neighboring gene LLLL and CFNLAS motif containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:142654865-142655580 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:142659214-142659409 Neighboring gene CRISPRi-validated cis-regulatory element chr7.5193 Neighboring gene uncharacterized LOC105375544 Neighboring gene olfactory receptor family 9 subfamily A member 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Molecular defects underlying the Kell null phenotype. Lee S, et al. J Biol Chem, 2001 Jul 20. PMID 11375401
    2. Two novel KEL alleles encoding K0 phenotypes in Brazilians. Arnoni CP, et al. Transfusion, 2014 Aug. PMID 24506314
    3. [A KEL*02mod allele responsible for an apparent maternity exclusion]. Monfort M, et al. Transfus Clin Biol, 2013 Dec. PMID 23727116
    4. Resolution of translation start site for the human Kell glycoprotein. Blacken GR, et al. Transfusion, 2013 Nov. PMID 23721226
    5. Identification of novel silent KEL alleles causing KEL:-5 (Ko) phenotype or discordance between KEL:1,-2 phenotype/KEL*01/02 genotype. Martin-Blanc S, et al. Transfusion, 2013 Nov. PMID 23581578

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci.
      Title: Epigenetic dissection of human blood group genes reveals regulatory elements and detailed characteristics of KEL and four other loci.
    2. Novel KEL allele associated with loss of Kp(b) identified in a white blood donor.
      Title: Novel KEL allele associated with loss of Kp(b) identified in a white blood donor.
    3. Functional Evaluation of KEL as an Oncogenic Gene in the Progression of Acute Erythroleukemia.
      Title: Functional Evaluation of KEL as an Oncogenic Gene in the Progression of Acute Erythroleukemia.
    4. Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K0 ) phenotype.
      Title: Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K(0) ) phenotype.
    5. HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.
      Title: HLA-DRB1 molecules and the presentation of anchor peptides from RhD, RhCE, and KEL proteins.
    6. Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
      Title: Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.
    7. Identification of a novel null allele of the KEL gene in a Korean patient with the Kell null phenotype.
      Title: Identification of a novel null allele of the KEL gene in a Korean patient with the Kell null phenotype.
    8. Leucoreduced red blood cells from transgenic mouse donors expressing high levels of the human KEL glycoprotein in an erythrocyte-specific manner (KEL(hi) donors) were transfused after the platelets, and anti-KEL responses were measured. Transfusion of platelets from wild-type C57BL/6 donors prior to KELhi red blood cell transfusion enhances the anti-KEL alloimmune response.
      Title: Transfused platelets enhance alloimmune responses to transfused KEL-expressing red blood cells in a murine model.
    9. Ten new silent KEL alleles were identified in Japanese individuals with the Ko phenotype.
      Title: Silent KEL alleles identified from Japanese individuals with the K(o) phenotype.
    10. description of four new KEL*01M alleles
      Title: New KEL*01M and KEL*02M alleles: structural modeling to assess the impact of amino acid changes.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Kell blood group system
    MedGen: C0022546 OMIM: 110900 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of Kell blood group, metallo-endopeptidase (KEL) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular magnesium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in myelination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in potassium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of axon diameter IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell size IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasoconstriction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    kell blood group glycoprotein
    Names
    Kell blood group antigen
    Kell blood group protein
    Kell blood group, metallo-endopeptidase
    Kell glycoprotein
    bloodgroup KEL protein
    NP_000411.1
    XP_005250050.1
    XP_047276313.1
    XP_054184680.1
    XP_054184681.1
    XP_054184682.1
    XP_054214158.1
    XP_054214159.1
    XP_054214160.1

    NCBI Reference Sequences (RefSeq)

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    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_007492.3 RefSeqGene

      Range
      5054..26303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_799

    mRNA and Protein(s)

    1. NM_000420.3 → NP_000411.1  kell blood group glycoprotein

      See identical proteins and their annotated locations for NP_000411.1

      Status: REVIEWED

      Source sequence(s)
      BC003135
      Consensus CDS
      CCDS34766.1
      UniProtKB/Swiss-Prot
      B2RBV4, P23276, Q96RS8, Q99885
      UniProtKB/TrEMBL
      A0A077QP03, A0A0A1TE50, A0A8D5UND5, A0A8D9FW36, B5U6Z5
      Related
      ENSP00000347409.2, ENST00000355265.7
      Conserved Domains (1) summary
      cd08662
      Location:97 → 730
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      142941114..142962363 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420357.1 → XP_047276313.1  kell blood group glycoprotein isoform X2

    2. XM_005249993.2 → XP_005250050.1  kell blood group glycoprotein isoform X1

      See identical proteins and their annotated locations for XP_005250050.1

      UniProtKB/TrEMBL
      A0A0A1TE50, A0A8D5UND5, A0A8D9FW36, B5U6Z5
      Conserved Domains (2) summary
      cd08662
      Location:109 → 742
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:106 → 744
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187562.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      964181..1062567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328706.1 → XP_054184681.1  kell blood group glycoprotein isoform X3

      UniProtKB/Swiss-Prot
      B2RBV4, P23276, Q96RS8, Q99885
      UniProtKB/TrEMBL
      A0A077QP03

    2. XM_054328707.1 → XP_054184682.1  kell blood group glycoprotein isoform X2

    3. XM_054328705.1 → XP_054184680.1  kell blood group glycoprotein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144296525..144394915 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358185.1 → XP_054214160.1  kell blood group glycoprotein isoform X2

    2. XM_054358184.1 → XP_054214159.1  kell blood group glycoprotein isoform X3

      UniProtKB/Swiss-Prot
      B2RBV4, P23276, Q96RS8, Q99885
      UniProtKB/TrEMBL
      A0A077QP03

    3. XM_054358183.1 → XP_054214158.1  kell blood group glycoprotein isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23276.2 GenPept UniProtKB/Swiss-Prot:P23276

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