Human Gene HLA-E (uc011gst.2) Description and Page Index
Description: Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA. RefSeq Summary (NM_005516): HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule 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. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AB209870.1, BC040479.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## Transcript (Including UTRs) Position: chr6_mann_hap4:1,805,367-1,810,060 Size: 4,694 Total Exon Count: 7 Strand: + Coding Region Position: chr6_mann_hap4:1,805,394-1,808,436 Size: 3,043 Coding Exon Count: 6
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Comments and Description Text from UniProtKB
ID:B4DL31_HUMAN DESCRIPTION: SubName: Full=cDNA FLJ52681, highly similar to HLA class I histocompatibility antigen, alpha chain E; SIMILARITY: Belongs to the MHC class I family. SIMILARITY: Contains Ig-like C1-type (immunoglobulin-like) domain.
Genetic Association Studies of Complex Diseases and Disorders
Behcet Syndrome Elaine F Remmers et al. Nature genetics 2010, , Nature genetics.
bone marrow transplantation Tamouza, R. et al. 2005, Association of HLA-E polymorphism with severe bacterial infection and early transplant-related mortality in matched unrelated bone marrow transplantation., Transplantation. 2005 Jul;80(1):140-4.
graft-versus-host disease Tamouza, R. et al. 2006, Homozygous Status for HLA-E*0103 Confers Protection from Acute Graft-Versus-Host Disease and Transplant-Related Mortality in HLA-Matched Sibling Hematopoietic Stem Cell Transplantation, Transplantation 2006 82(11) 1436-1440.
These data suggest that the homozygous state for HLA-E*0103 allele behaves as a protective genetic factor against aGVHD and TRM and likely contributes to improved survival in HLA-genoidentical bone marrow transplantation.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on B4DL31
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK292391 - Homo sapiens cDNA FLJ78238 complete cds, highly similar to Homo sapiens major histocompatibility complex, class I, E, mRNA. AK098434 - Homo sapiens cDNA FLJ25568 fis, clone JTH03907, highly similar to HLA CLASS I HISTOCOMPATIBILITY ANTIGEN, ALPHA CHAIN E E*0101/E*0102 PRECURSOR. AK316327 - Homo sapiens cDNA, FLJ79226 complete cds, highly similar to HLA class I histocompatibility antigen, alphachain E precursor. AK300906 - Homo sapiens cDNA FLJ54887 complete cds, highly similar to HLA class I histocompatibility antigen, alpha chain E precursor. AK298695 - Homo sapiens cDNA FLJ55134 complete cds, moderately similar to HLA class I histocompatibility antigen, alpha chain E precursor. AK314411 - Homo sapiens cDNA, FLJ95191. AK301125 - Homo sapiens cDNA FLJ53747 complete cds, highly similar to HLA class I histocompatibility antigen, alpha chain E precursor. AK296822 - Homo sapiens cDNA FLJ52681 complete cds, highly similar to HLA class I histocompatibility antigen, alpha chain E precursor. BC040479 - Homo sapiens major histocompatibility complex, class I, E, mRNA (cDNA clone MGC:32811 IMAGE:4696327), complete cds. AK225048 - Homo sapiens mRNA for HLA class I histocompatibility antigen, alpha chain E precursor variant, clone: adKA03449. BC002578 - Homo sapiens major histocompatibility complex, class I, E, mRNA (cDNA clone MGC:1408 IMAGE:3140835), complete cds. M20022 - Human HLA-E class I mRNA. AB385554 - Synthetic construct DNA, clone: pF1KB5542, Homo sapiens HLA-E gene for major histocompatibility complex, class I, E precursor, complete cds, without stop codon, in Flexi system. DQ895077 - Synthetic construct Homo sapiens clone IMAGE:100009537; FLH181148.01L; RZPDo839A05135D major histocompatibility complex, class I, E (HLA-E) gene, encodes complete protein. DQ891891 - Synthetic construct clone IMAGE:100004521; FLH181152.01X; RZPDo839A05136D major histocompatibility complex, class I, E (HLA-E) gene, encodes complete protein. AJ293263 - Homo sapiens mRNA for MHC class I antigen, HLA-E*01033 allele (HLA-E gene). AJ293264 - Homo sapiens mRNA for MHC class I antigen, HLA-E*0101 allele (HLA-E gene). AY216681 - Homo sapiens nonclassical MHC class I antigen (HLA-E) mRNA, HLA-E*010301 allele, complete cds. AY221103 - Homo sapiens MHC class I antigen (HLA-E) mRNA, HLA-E*010303 variant allele, complete cds. BC004297 - Homo sapiens, clone IMAGE:3622619, mRNA, partial cds. AB209870 - Homo sapiens mRNA for HLA class I histocompatibility antigen, E alpha chain precursor variant protein. M31183 - Homo sapiens (cosmid clone cd3.3) MHC class I HLA-B51 mRNA, 3' end of cds. L78455 - Homo sapiens isolate SPA 70 HLA-E gene exons 2 and 3. L78934 - Homo sapiens isolate SPAARN 70 HLA-E gene exons 2 and 3. BX538084 - Homo sapiens mRNA; cDNA DKFZp686P19218 (from clone DKFZp686P19218). X56841 - H.sapiens HLA-E gene. X64879 - H.sapiens mRNA for HLA-E heavy chain (exons 4 - 7).