GeneID: 358


Common Name: HLA-E Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NM_005516.6 (HLA-E)
HUGO Symbol: HLA-E Full Name: major histocompatibility complex, class I, E
Exons: 8 Introns: 7

HLA-E (major histocompatibility complex, class I, E) belongs to the HLA class I non-classical family. It is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. HLA-E functions as a modulator of natural killer cell activity by interacting with CD94-NKG2A receptor in innate immunity and as antigen presenting molecule (via T-cell αβ-mediated recognition) for triggering specific immune response. HLA-E gene has two known non-synonymous alleles, HLA-E*0101 and HLA-E*0103, which have been shown to influence response to severe baterial infections in sickle cell anaemia.

Synonyms: QA1 , HLA-6.2


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Publications / Origin

  1. Tamouza R, Busson M, Fortier C, Diagne I, Diallo D, Sloma I, Contouris H, Krishnamoorthy R, Labie D, Girot R, Charron D, HLA-E*0101 allele in homozygous state favors severe bacterial infections in sickle cell anemia., Hum. Immunol., 68(10), 849-53, 2007 PubMed
Created on 2020-03-25 12:11:42, Last reviewed on (Show full history)

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