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

    Gene ID: 23925, updated on 19-Nov-2017
    Official Symbol
    Kelprovided by MGI
    Official Full Name
    Kell blood groupprovided by MGI
    Primary source
    MGI:MGI:1346053
    See related
    Ensembl:ENSMUSG00000029866 Vega:OTTMUSG00000026360
    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
    Expression
    Biased expression in liver E14.5 (RPKM 142.2), liver E14 (RPKM 123.9) and 3 other tissues See more
    Orthologs
    Location:
    6 B2.1; 6 19.86 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 6 NC_000072.6 (41686329..41704334, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 6 NC_000072.5 (41636329..41654324, complement)

    Chromosome 6 - NC_000072.6Genomic 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 olfactory receptor 459

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Markers

    Homology

    Clone Names

    • MGC107471

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    metallopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular calcium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular magnesium ion homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    myelination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of potassium ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of axon diameter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of cell size IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    skeletal muscle fiber development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    kell blood group glycoprotein homolog
    Names
    Kel blood group protein
    Kell blood group, metallo-endopeptidase
    Kell protein

    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_032540.3NP_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
      Q9EQF2
      Related
      ENSMUSP00000031899.8, OTTMUSP00000032452, ENSMUST00000031899.13, OTTMUST00000065192
      Conserved Domains (2) summary
      cd08662
      Location:78711
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:75713
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000072.6 Reference GRCm38.p4 C57BL/6J

      Range
      41686329..41704334 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Conserved Domains (2) summary
      cd08662
      Location:78618
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:75620
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    2. XM_006506057.3XP_006506120.1  kell blood group glycoprotein homolog isoform X1

      See identical proteins and their annotated locations for XP_006506120.1

      UniProtKB/Swiss-Prot
      Q9EQF2
      Conserved Domains (2) summary
      cd08662
      Location:78711
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:75713
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    3. XM_006506058.3XP_006506121.1  kell blood group glycoprotein homolog isoform X2

      Conserved Domains (2) summary
      cd08662
      Location:15648
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:12650
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    4. XM_017321572.1XP_017177061.1  kell blood group glycoprotein homolog isoform X4

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

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

      Conserved Domains (1) summary
      cl14813
      Location:78394
      GluZincin; Peptidase Gluzincin family (thermolysin-like proteinases, TLPs) includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)

    RNA

    1. XR_001785127.1 RNA Sequence

    2. XR_377447.2 RNA Sequence

    3. XR_377448.2 RNA Sequence

    4. XR_377449.1 RNA Sequence

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