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

Gene ID: 23925, updated on 21-Apr-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 cellular divalent inorganic 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, Apr 2022]
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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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
  • 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 (15) 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)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

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 hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
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 metallopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
  
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
  
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
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 ISO
Inferred from Sequence Orthology
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 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 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

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