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

Gene ID: 3792, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (142941114..142962363, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144296525..144394915, complement)
105.20220307 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
  • 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. Novel KEL allele associated with loss of Kp(b) identified in a white blood donor. Yearout S, et al. Immunohematology, 2022 Jul 5. PMID 35852066
  2. Functional Evaluation of KEL as an Oncogenic Gene in the Progression of Acute Erythroleukemia. Liu W, et al. Oxid Med Cell Longev, 2022. PMID 35140839, Free PMC Article
  3. Novel KEL*02N allele in Saudi Arabia encoding a Kell null (K(0) ) phenotype. Albasri J, et al. Transfusion, 2021 Jul. PMID 34137046
  4. Identification of a novel null allele of the KEL gene in a Korean patient with the Kell null phenotype. Kim TY, et al. Transfusion, 2020 Aug. PMID 32598050
  5. Transfused platelets enhance alloimmune responses to transfused KEL-expressing red blood cells in a murine model. Madrid DJ, et al. Blood Transfus, 2019 Sep. PMID 30418129, Free PMC Article

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. The expression of Kell glycoprotein on RBCs is not critical to the erythrocyte function
    Title: Kell and Kx blood group systems.
Submit: New GeneRIF Correction See all GeneRIFs (29)

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
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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_2023_10

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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