• Gene id: 3133

Gene Summary

• Gene Symbol: HLA-E   Gene   UCSC   Ensembl
• Aliases: HLA-6.2, QA1
• Gene name: major histocompatibility complex, class I, E
• Alternate names: HLA class I histocompatibility antigen, alpha chain E, MHC class I antigen E, MHC class Ib antigen,
• Gene location: 6p22.1 (30489405: 30494204)     Exons: 6     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 143010

Protein Summary

• Protein general information: P13747  
  • Name: HLA class I histocompatibility antigen, alpha chain E (MHC class I antigen E)
  • Length: 358  
  • Mass: 40,157
  • Tissue specificity: Expressed exclusively in testis and sperm. Highest expression is found in the neck region of ejaculated sperm with lower levels found in the tail and postacrosome region. {ECO
• Sequence:

  MVDGTLLLLLSEALALTQTWAGSHSLKYFHTSVSRPGRGEPRFISVGYVDDTQFVRFDNDAASPRMVPRAPWMEQ
  EGSEYWDRETRSARDTAQIFRVNLRTLRGYYNQSEAGSHTLQWMHGCELGPDRRFLRGYEQFAYDGKDYLTLNED
  LRSWTAVDTAAQISEQKSNDASEAEHQRAYLEDTCVEWLHKYLEKGKETLLHLEPPKTHVTHHPISDHEATLRCW
  ALGFYPAEITLTWQQDGEGHTQDTELVETRPAGDGTFQKWAAVVVPSGEEQRYTCHVQHEGLPEPVTLRWKPASQ
  PTIPIVGIIAGLVLLGSVVSGAVVAAVIWRKKSSGGKGGSYSKAEWSDSAQGSESHSL

• Structural information:
  • Protein Domains: Ig-like (206-294)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR011161  IPR037055  IPR011162  IPR001039  IPR010579  
  • Prosite: PS50835 PS00290
  • PDB: 1KPR 1KTL 1MHE 2ESV 3AM8 3BZE 3BZF 3CDG 3CII 5W1V 5W1W
  • PDBsum: 1KPR 1KTL 1MHE 2ESV 3AM8 3BZE 3BZF 3CDG 3CII 5W1V 5W1W
  • DIP: 32
  • STRING: ENSP00000365817
• Other Databases: GeneCards:  HLA-E  Malacards:  HLA-E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001916	positive regulation of T cell mediated cytotoxicity	IDA	biological process
GO:0002250	adaptive immune response	IDA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IBA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002476	antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IDA	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002715	regulation of natural killer cell mediated immunity	IDA	biological process
GO:0002717	positive regulation of natural killer cell mediated immunity	IDA	biological process
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030881	beta-2-microglobulin binding	IMP	molecular function
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032398	MHC class Ib protein complex	IDA	cellular component
GO:0032736	positive regulation of interleukin-13 production	IDA	biological process
GO:0032753	positive regulation of interleukin-4 production	IDA	biological process
GO:0032759	positive regulation of TRAIL production	IDA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IDA	biological process
GO:0036037	CD8-positive, alpha-beta T cell activation	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042288	MHC class I protein binding	IDA	molecular function
GO:0042605	peptide antigen binding	IMP	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042612	MHC class I protein complex	IDA	cellular component
GO:0042612	MHC class I protein complex	IDA	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0046703	natural killer cell lectin-like receptor binding	IPI	molecular function
GO:0050776	regulation of immune response	TAS	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0051024	positive regulation of immunoglobulin secretion	IDA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2000566	positive regulation of CD8-positive, alpha-beta T cell proliferation	IDA	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001916	positive regulation of T cell mediated cytotoxicity	IDA	biological process
GO:0002250	adaptive immune response	IDA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IBA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IEA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002476	antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IDA	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002715	regulation of natural killer cell mediated immunity	IDA	biological process
GO:0002717	positive regulation of natural killer cell mediated immunity	IDA	biological process
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006955	immune response	IEA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0019882	antigen processing and presentation	IEA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030881	beta-2-microglobulin binding	IMP	molecular function
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032398	MHC class Ib protein complex	IDA	cellular component
GO:0032736	positive regulation of interleukin-13 production	IDA	biological process
GO:0032753	positive regulation of interleukin-4 production	IDA	biological process
GO:0032759	positive regulation of TRAIL production	IDA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IDA	biological process
GO:0036037	CD8-positive, alpha-beta T cell activation	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042288	MHC class I protein binding	IDA	molecular function
GO:0042605	peptide antigen binding	IEA	molecular function
GO:0042605	peptide antigen binding	IMP	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0042612	MHC class I protein complex	IEA	cellular component
GO:0042612	MHC class I protein complex	IDA	cellular component
GO:0042612	MHC class I protein complex	IDA	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0046703	natural killer cell lectin-like receptor binding	IPI	molecular function
GO:0050776	regulation of immune response	TAS	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0051024	positive regulation of immunoglobulin secretion	IDA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2000566	positive regulation of CD8-positive, alpha-beta T cell proliferation	IDA	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001916	positive regulation of T cell mediated cytotoxicity	IDA	biological process
GO:0002250	adaptive immune response	IDA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	IBA	biological process
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	TAS	biological process
GO:0002476	antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IDA	biological process
GO:0002479	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	TAS	biological process
GO:0002480	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent	TAS	biological process
GO:0002715	regulation of natural killer cell mediated immunity	IDA	biological process
GO:0002717	positive regulation of natural killer cell mediated immunity	IDA	biological process
GO:0005102	receptor binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0019731	antibacterial humoral response	IDA	biological process
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030881	beta-2-microglobulin binding	IMP	molecular function
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0030881	beta-2-microglobulin binding	IDA	molecular function
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0032398	MHC class Ib protein complex	IDA	cellular component
GO:0032736	positive regulation of interleukin-13 production	IDA	biological process
GO:0032753	positive regulation of interleukin-4 production	IDA	biological process
GO:0032759	positive regulation of TRAIL production	IDA	biological process
GO:0032760	positive regulation of tumor necrosis factor production	IDA	biological process
GO:0036037	CD8-positive, alpha-beta T cell activation	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042270	protection from natural killer cell mediated cytotoxicity	IDA	biological process
GO:0042288	MHC class I protein binding	IDA	molecular function
GO:0042605	peptide antigen binding	IMP	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042605	peptide antigen binding	IDA	molecular function
GO:0042612	MHC class I protein complex	IDA	cellular component
GO:0042612	MHC class I protein complex	IDA	cellular component
GO:0045087	innate immune response	TAS	biological process
GO:0046703	natural killer cell lectin-like receptor binding	IPI	molecular function
GO:0050776	regulation of immune response	TAS	biological process
GO:0050830	defense response to Gram-positive bacterium	IDA	biological process
GO:0051024	positive regulation of immunoglobulin secretion	IDA	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:0071556	integral component of lumenal side of endoplasmic reticulum membrane	TAS	cellular component
GO:2000566	positive regulation of CD8-positive, alpha-beta T cell proliferation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00600	Sphingolipid metabolism
hsa00590	Arachidonic acid metabolism
hsa00592	alpha-Linolenic acid metabolism
hsa00270	Cysteine and methionine metabolism
hsa00513	Various types of N-glycan biosynthesis
hsa00604	Glycosphingolipid biosynthesis - ganglio series
hsa03420	Nucleotide excision repair
hsa04015	Rap1 signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04010	MAPK signaling pathway
hsa04350	TGF-beta signaling pathway
hsa04350	TGF-beta signaling pathway
hsa04370	VEGF signaling pathway
hsa04370	VEGF signaling pathway
hsa04371	Apelin signaling pathway
hsa04371	Apelin signaling pathway
hsa04630	JAK-STAT signaling pathway
hsa04514	Cell adhesion molecules
hsa04144	Endocytosis
hsa04145	Phagosome
hsa04218	Cellular senescence
hsa04650	Natural killer cell mediated cytotoxicity
hsa04612	Antigen processing and presentation
hsa05203	Viral carcinogenesis
hsa05320	Autoimmune thyroid disease
hsa05330	Allograft rejection
hsa05332	Graft-versus-host disease
hsa05416	Viral myocarditis
hsa04940	Type I diabetes mellitus
hsa05166	Human T-cell leukemia virus 1 infection
hsa05170	Human immunodeficiency virus 1 infection
hsa05168	Herpes simplex virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa05169	Epstein-Barr virus infection
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer	GAD: 15496202
Cancer (nasopharyngeal)	GAD: 15496202
Cardiovascular disease	GAD: 19180512
Coronary aneurysm	GAD: 19180512
Anemia	GAD: 17961774
Behcet's disease	GAD: 17257316
Systemic lupus erythematosus (SLE)	GAD: 19851445
Ankylosing spondylitis	GAD: 19912639
Behcet's disease	GAD: 20622878
Diabetes	GAD: 15631661
Abortion	GAD: 20587610
Recurrent pregnancy loss (RPL)	GAD: 16573557
Male factor infertility	MIK: 9598492
Male factor infertility	MIK: 18987160
Chorioamnionitis	GAD: 20673868
Endometriosis	INFBASE: 17706207
Azoospermia	MIK: 9598492
Idiopathic azoospermia	MIK: 9598492
Male infertility	MIK: 18987160
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
9598492	Idiopathic azoospermia	HLA-A33, B13 and B44	Japanes e	65 infertile men with idiopathic azoospermia, 1,216 healthy men	Male infertility	HLA-A33 B13 and B44
18987160	Male infertility			42 (11 fertile men, 31 infertile men)	Male infertility	PSG1 HLA-E
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)