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

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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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

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

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.

Products Interactant Other Gene Complex Source Pubs Description

Markers

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

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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

    UniProtKB/TrEMBL
    A0A0A1TE50, A0A6B9JD81, A0A8D5UND5, A0A8D9FW36, B5U6Z5, D8MJ82

  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, A0A0A1TE50, A0A8D5UND5, A0A8D9FW36, B5U6Z5

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

    UniProtKB/TrEMBL
    A0A0A1TE50, A0A6B9JD81, A0A8D5UND5, A0A8D9FW36, B5U6Z5, D8MJ82

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

    UniProtKB/TrEMBL
    A0A0A1TE50, A0A8D5UND5, A0A8D9FW36, B5U6Z5

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

    UniProtKB/TrEMBL
    A0A0A1TE50, A0A6B9JD81, A0A8D5UND5, A0A8D9FW36, B5U6Z5, D8MJ82

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

    UniProtKB/Swiss-Prot
    B2RBV4, P23276, Q96RS8, Q99885
    UniProtKB/TrEMBL
    A0A077QP03, A0A0A1TE50, A0A8D5UND5, A0A8D9FW36, B5U6Z5

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

    UniProtKB/TrEMBL
    A0A0A1TE50, A0A8D5UND5, A0A8D9FW36, B5U6Z5