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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
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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
  Genetic Association Database: HLA-E
CDC HuGE Published Literature: HLA-E
Positive Disease Associations: Behcet Syndrome , bone marrow transplantation , graft-versus-host disease , HIV , nasopharyngeal cancer , Psoriasis
Related Studies:
  1. Behcet Syndrome
    Elaine F Remmers et al. Nature genetics 2010, , Nature genetics. [PubMed 20622878]
  2. 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. [PubMed 16003246]
  3. 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. [PubMed 17164714]
    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.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.6027-0.170 Picture PostScript Text
3' UTR -514.991459-0.353 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like_dom
IPR013783 - Ig-like_fold
IPR003006 - Ig/MHC_CS
IPR003597 - Ig_C1-set
IPR011161 - MHC_I-like_Ag-recog
IPR011162 - MHC_I/II-like_Ag-recog
IPR027648 - MHC_I_a
IPR001039 - MHC_I_a_a1/a2

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00129 - Class I Histocompatibility antigen, domains alpha 1 and 2
PF07654 - Immunoglobulin C1-set domain

SCOP Domains:
48726 - Immunoglobulin
54452 - MHC antigen-recognition domain

ModBase Predicted Comparative 3D Structure on B4DL31
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  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).

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis
hsa04514 - Cell adhesion molecules (CAMs)
hsa04612 - Antigen processing and presentation
hsa04650 - Natural killer cell mediated cytotoxicity
hsa04940 - Type I diabetes mellitus
hsa05320 - Autoimmune thyroid disease
hsa05330 - Allograft rejection
hsa05332 - Graft-versus-host disease
hsa05416 - Viral myocarditis

-  Other Names for This Gene
  Alternate Gene Symbols: AK296822, B4DL31, B4DL31_HUMAN
UCSC ID: uc011gst.2
RefSeq Accession: NM_005516
Protein: B4DL31

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK296822.1
exon count: 7CDS single in 3' UTR: no RNA size: 1485
ORF size: 1200CDS single in intron: no Alignment % ID: 99.93
txCdsPredict score: 2557.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 7
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 214# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.