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    Kel Kell blood group [ Mus musculus (house mouse) ]

    Gene ID: 23925, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Kelprovided by MGI
    Official Full Name
    Kell blood groupprovided by MGI
    Primary source
    MGI:MGI:1346053
    See related
    Ensembl:ENSMUSG00000029866 AllianceGenome:MGI:1346053
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ece3; CD238
    Summary
    Enables metallopeptidase activity. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Located in membrane. Orthologous to human KEL (Kell metallo-endopeptidase (Kell blood group)). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver E14.5 (RPKM 142.2), liver E14 (RPKM 123.9) and 3 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Kel in Genome Data Viewer
    Location:
    6 B2.1; 6 19.86 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (41663263..41681268, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (41686329..41704334, complement)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 34642 Neighboring gene transient receptor potential cation channel, subfamily V, member 5 Neighboring gene LLLL and CFNLAS motif containing 1 Neighboring gene predicted gene, 38796 Neighboring gene STARR-seq mESC enhancer starr_15706 Neighboring gene STARR-seq mESC enhancer starr_15707 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: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. B cells require Type 1 interferon to produce alloantibodies to transfused KEL-expressing red blood cells in mice. Gibb DR, et al. Transfusion, 2017 Nov. PMID 28836263, Free PMC Article
    2. Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome. Zhu X, et al. Am J Pathol, 2014 Mar. PMID 24405768, Free PMC Article
    3. Changes in red cell ion transport, reduced intratumoral neovascularization, and some mild motor function abnormalities accompany targeted disruption of the Mouse Kell gene (Kel). Zhu X, et al. Am J Hematol, 2009 Aug. PMID 19544475
    4. The mouse Kell blood group gene (Kel): cDNA sequence, genomic organization, expression, and enzymatic function. Lee S, et al. Immunogenetics, 2000 Nov. PMID 11132157
    5. Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis. Rivera A, et al. Blood Cells Mol Dis, 2013 Feb. PMID 23122227, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. B cells require signaling from IFN-alpha/beta to produce alloantibodies to the human KEL glycoprotein in mice
      Title: B cells require Type 1 interferon to produce alloantibodies to transfused KEL-expressing red blood cells in mice.
    2. Absence of Kell was accompanied by changes in erythrocyte K(+), Mg(2+), Na(+) & Ca(2+) transport associated with changes in mean cellular volume & corpuscular hemoglobin concentration mean. Kel loss increased Mg(2+) permeability.
      Title: Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis.
    3. The targeted disruption of Kel in mouse enabled us to identify phenotypes that would not be easily detected in humans lacking Kell glycoprotein.
      Title: Changes in red cell ion transport, reduced intratumoral neovascularization, and some mild motor function abnormalities accompany targeted disruption of the Mouse Kell gene (Kel).
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Clone Names

    • MGC107471

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of establishment of localization in cell IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within intracellular calcium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within intracellular magnesium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within myelination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of potassium ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of potassium ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within regulation of axon diameter IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle fiber development IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    kell blood group glycoprotein homolog
    Names
    Kel blood group protein
    Kell blood group, metallo-endopeptidase
    Kell protein

    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.

    mRNA and Protein(s)

    1. NM_032540.3 → NP_115929.3  kell blood group glycoprotein homolog

      See identical proteins and their annotated locations for NP_115929.3

      Status: VALIDATED

      Source sequence(s)
      AI894156, AK028430, BY234859
      Consensus CDS
      CCDS20055.1
      UniProtKB/Swiss-Prot
      Q499D7, Q9EQF2
      Related
      ENSMUSP00000031899.9, ENSMUST00000031899.14
      Conserved Domains (1) summary
      cd08662
      Location:78 → 711
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      41663263..41681268 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006506059.1 → XP_006506122.1  kell blood group glycoprotein homolog isoform X3

      Conserved Domains (1) summary
      cd08662
      Location:78 → 618
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    2. XM_006506057.4 → XP_006506120.1  kell blood group glycoprotein homolog isoform X1

      See identical proteins and their annotated locations for XP_006506120.1

      UniProtKB/Swiss-Prot
      Q499D7, Q9EQF2
      Conserved Domains (1) summary
      cd08662
      Location:78 → 711
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    3. XM_006506058.4 → XP_006506121.1  kell blood group glycoprotein homolog isoform X2

      Conserved Domains (1) summary
      cd08662
      Location:15 → 648
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    4. XM_017321572.1 → XP_017177061.1  kell blood group glycoprotein homolog isoform X4

      Conserved Domains (1) summary
      cd08662
      Location:28 → 535
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    5. XM_017321573.1 → XP_017177062.1  kell blood group glycoprotein homolog isoform X6

      Conserved Domains (1) summary
      cd08662
      Location:1 → 366
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    6. XM_011241331.1 → XP_011239633.1  kell blood group glycoprotein homolog isoform X5

      Conserved Domains (1) summary
      pfam05649
      Location:80 → 380
      Peptidase_M13_N; Peptidase family M13

    RNA

    1. XR_001785127.1 RNA Sequence

    2. XR_377447.3 RNA Sequence

    3. XR_377448.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9EQF2.1 GenPept UniProtKB/Swiss-Prot:Q9EQF2

    Gene LinkOut

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

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