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P13747 (HLAE_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 149. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
HLA class I histocompatibility antigen, alpha chain E
Alternative name(s):
MHC class I antigen E
Gene names
Name:HLA-E
Synonyms:HLA-6.2, HLAE
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length358 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Preferably binds to a peptide derived from the signal sequence of most HLA-A, -B, -C and -G molecules.

Subunit structure

Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin).

Subcellular location

Membrane; Single-pass type I membrane protein.

Polymorphism

The following alleles of E-1 are known: E*01:01, E*0102, E*01:03 and E*01:04. The sequence shown is that of E*01:01.

Sequence similarities

Belongs to the MHC class I family.

Contains 1 Ig-like C1-type (immunoglobulin-like) domain.

Caution

The existence of allele E*0102 (Ref.6) and allele E*0104 (Ref.10) is uncertain. The alleles could not be confirmed in further studies (Ref.14).

Ontologies

Keywords
   Biological processImmunity
   Cellular componentMembrane
MHC I
   Coding sequence diversityPolymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   PTMDisulfide bond
Glycoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processantigen processing and presentation of endogenous peptide antigen via MHC class Ib

Inferred from direct assay PubMed 9754572. Source: UniProt

antigen processing and presentation of exogenous peptide antigen via MHC class I

Traceable author statement. Source: Reactome

antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent

Traceable author statement. Source: Reactome

antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent

Traceable author statement. Source: Reactome

antigen processing and presentation of peptide antigen via MHC class I

Traceable author statement. Source: Reactome

cytokine-mediated signaling pathway

Traceable author statement. Source: Reactome

innate immune response

Traceable author statement. Source: Reactome

interferon-gamma-mediated signaling pathway

Traceable author statement. Source: Reactome

positive regulation of T cell mediated cytotoxicity

Inferred from electronic annotation. Source: InterPro

positive regulation of natural killer cell mediated immunity

Inferred from direct assay PubMed 9754572. Source: UniProt

protection from natural killer cell mediated cytotoxicity

Inferred from direct assay PubMed 9754572. Source: UniProt

regulation of immune response

Traceable author statement. Source: Reactome

type I interferon signaling pathway

Traceable author statement. Source: Reactome

   Cellular_componentER to Golgi transport vesicle membrane

Traceable author statement. Source: Reactome

Golgi membrane

Traceable author statement. Source: Reactome

MHC class I protein complex

Inferred from electronic annotation. Source: UniProtKB-KW

cell surface

Inferred from direct assay PubMed 9754572. Source: UniProt

early endosome membrane

Traceable author statement. Source: Reactome

extracellular vesicular exosome

Inferred from direct assay PubMed 20458337. Source: UniProt

integral component of lumenal side of endoplasmic reticulum membrane

Traceable author statement. Source: Reactome

phagocytic vesicle membrane

Traceable author statement. Source: Reactome

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionMHC class I protein binding

Inferred from direct assay PubMed 9754572. Source: UniProt

peptide antigen binding

Inferred from direct assay PubMed 9754572. Source: UniProt

receptor binding

Inferred from Biological aspect of Ancestor. Source: RefGenome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121
Chain22 – 358337HLA class I histocompatibility antigen, alpha chain E
PRO_0000018882

Regions

Topological domain22 – 305284Extracellular Potential
Transmembrane306 – 32924Helical; Potential
Topological domain330 – 35829Cytoplasmic Potential
Domain206 – 29489Ig-like C1-type
Region22 – 11190Alpha-1
Region112 – 20392Alpha-2
Region204 – 29592Alpha-3
Region296 – 30510Connecting peptide

Amino acid modifications

Glycosylation1071N-linked (GlcNAc...) Ref.11
Disulfide bond122 ↔ 185
Disulfide bond224 ↔ 280

Natural variations

Natural variant981N → K.
Corresponds to variant rs1059510 [ dbSNP | Ensembl ].
VAR_059510
Natural variant1041G → R in allele E*0102.
VAR_004395
Natural variant1281R → G in allele E*01:03 and allele E*01:04.
Corresponds to variant rs1264457 [ dbSNP | Ensembl ].
VAR_016651
Natural variant1781R → G in allele E*01:04.
Corresponds to variant rs41562314 [ dbSNP | Ensembl ].
VAR_016652

Experimental info

Sequence conflict101L → S in AAA52655. Ref.1

Secondary structure

......................................................... 358
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P13747 [UniParc].

Last modified August 29, 2003. Version 3.
Checksum: 2A211B603591D248

FASTA35840,157
        10         20         30         40         50         60 
MVDGTLLLLL SEALALTQTW AGSHSLKYFH TSVSRPGRGE PRFISVGYVD DTQFVRFDND 

        70         80         90        100        110        120 
AASPRMVPRA PWMEQEGSEY WDRETRSARD TAQIFRVNLR TLRGYYNQSE AGSHTLQWMH 

       130        140        150        160        170        180 
GCELGPDRRF LRGYEQFAYD GKDYLTLNED LRSWTAVDTA AQISEQKSND ASEAEHQRAY 

       190        200        210        220        230        240 
LEDTCVEWLH KYLEKGKETL LHLEPPKTHV THHPISDHEA TLRCWALGFY PAEITLTWQQ 

       250        260        270        280        290        300 
DGEGHTQDTE LVETRPAGDG TFQKWAAVVV PSGEEQRYTC HVQHEGLPEP VTLRWKPASQ 

       310        320        330        340        350 
PTIPIVGIIA GLVLLGSVVS GAVVAAVIWR KKSSGGKGGS YSKAEWSDSA QGSESHSL 

« Hide

References

« Hide 'large scale' references
[1]"Isolation and nucleotide sequence of a cDNA clone encoding a novel HLA class I gene."
Mizuno S., Trapani J.A., Koller B.H., Dupont B., Yang S.Y.
J. Immunol. 140:4024-4030(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE E*01:01).
[2]"Cell surface expression of HLA-E: interaction with human beta-2 microglobulin and allelic differences."
Ulbrecht M., Courturier A., Martinozzi S., Pla M., Srivastava R., Peterson P.A., Weiss E.H.
Eur. J. Immunol. 29:537-547(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE (ALLELES E*01:01 AND E*01:03).
[3]"HLA-E, F, and G polymorphism: genomic sequence defines new variation spanning the nonclassical class I genes."
Ishitani A., Miki A., Williams L.M., Moore Y., Geraghty D.E.
Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE (ALLELES E*01:01 AND E*01:03).
[4]"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
Shiina S., Tamiya G., Oka A., Inoko H.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA] (ALLELE E*01:01).
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ALLELE E*01:01).
Tissue: Ovarian adenocarcinoma and Pancreas.
[6]"HLA-E. A novel HLA class I gene expressed in resting T lymphocytes."
Koller B.H., Geraghty D.E., Shimizu Y., Demars R., Orr H.T.
J. Immunol. 141:897-904(1988) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE E*0102).
[7]Ulbrecht M.
Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE (ALLELE E*01:03).
[8]"A new variant of HLA-E*010303 with three synonymous mutations."
He X., Xu L., Liu Y., Zeng Y.
Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE E*01:03).
[9]"Cloning of HLA-E cDNA from activated peripheral leukocytes."
He X., Xu L., Liu Y., Zeng Y.
Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ALLELE E*01:03).
[10]"Polymorphism in the human class I MHC locus HLA-E in Japanese."
Ohya K., Kondo K., Mizuno S.
Immunogenetics 32:205-209(1990) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 112-203 (ALLELE E*01:04).
Tissue: Peripheral blood.
[11]"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-107.
Tissue: Leukemic T-cell.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"Structural features impose tight peptide binding specificity in the nonclassical MHC molecule HLA-E."
O'Callaghan C.A., Tormo J., Willcox B.E., Braud V.M., Jakobsen B.K., Stuart D.I., McMichael A.J., Bell J.I., Jones E.Y.
Mol. Cell 1:531-541(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.85 ANGSTROMS) OF 22-295.
[14]"Definitive high resolution typing of HLA-E allelic polymorphisms: identifying potential errors in existing allele data."
Grimsley C., Kawasaki A., Gassner C., Sageshima N., Nose Y., Hatake K., Geraghty D.E., Ishitani A.
Tissue Antigens 60:206-212(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: POLYMORPHISM, QUESTIONING ON ALLELES E*0102 AND E*01:04.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M20022 mRNA. Translation: AAA52655.1.
AJ293263 mRNA. Translation: CAC07212.1.
AJ293264 mRNA. Translation: CAC07213.1.
AF523274 Genomic DNA. Translation: AAM74969.1.
AF523275 Genomic DNA. Translation: AAM74970.1.
AF523276 Genomic DNA. Translation: AAM74971.1.
AF523277 Genomic DNA. Translation: AAM74972.1.
AF523278 Genomic DNA. Translation: AAM74973.1.
AF523279 Genomic DNA. Translation: AAM74974.1.
AF523280 Genomic DNA. Translation: AAM74975.1.
AF523281 Genomic DNA. Translation: AAM74976.1.
AF523282 Genomic DNA. Translation: AAM74977.1.
AF523283 Genomic DNA. Translation: AAM74978.1.
BA000025 Genomic DNA. Translation: BAB63328.1.
BC002578 mRNA. Translation: AAH02578.1.
BC004297 mRNA. Translation: AAH04297.1.
M21533 Genomic DNA. Translation: AAA59835.1.
AY221103 mRNA. Translation: AAO34408.1.
AY216681 mRNA. Translation: AAO37688.1.
M32508 Genomic DNA. Translation: AAA63225.1.
PIRA28834.
RefSeqNP_005507.3. NM_005516.5.
UniGeneHs.650174.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1KPRX-ray2.80A/C22-295[»]
1KTLX-ray3.10A/C22-295[»]
1MHEX-ray2.85A/C22-295[»]
2ESVX-ray2.60A23-297[»]
3AM8X-ray2.80A/B22-297[»]
3BZEX-ray2.50A/C/E/G23-295[»]
3BZFX-ray2.50A/C22-297[»]
3CDGX-ray3.40A/C23-295[»]
3CIIX-ray4.41A/D23-295[»]
ProteinModelPortalP13747.
SMRP13747. Positions 22-297.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109378. 6 interactions.
DIPDIP-32N.
IntActP13747. 18 interactions.
STRING9606.ENSP00000373091.

PTM databases

PhosphoSiteP13747.

Polymorphism databases

DMDM34395942.

Proteomic databases

PaxDbP13747.
PRIDEP13747.

Protocols and materials databases

DNASU3133.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000383597; ENSP00000373091; ENSG00000206493.
ENST00000415289; ENSP00000409910; ENSG00000229252.
ENST00000415649; ENSP00000390707; ENSG00000233904.
ENST00000427936; ENSP00000397420; ENSG00000230254.
GeneID3133.
KEGGhsa:3133.

Organism-specific databases

CTD3133.
GeneCardsGC06P030457.
GC06Pj30447.
GC06Pk30447.
GC06Pn30446.
GC06Po30448.
HGNCHGNC:4962. HLA-E.
HPACAB024589.
HPA031454.
MIM143010. gene.
neXtProtNX_P13747.
PharmGKBPA35081.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG329718.
HOVERGENHBG016709.
InParanoidP13747.
KOK06751.
OMAGHWEPAG.
PhylomeDBP13747.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

CleanExHS_HLA-E.
GenevestigatorP13747.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
3.30.500.10. 1 hit.
InterProIPR007110. 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.
[Graphical view]
PfamPF07654. C1-set. 1 hit.
PF00129. MHC_I. 1 hit.
[Graphical view]
PRINTSPR01638. MHCCLASSI.
SMARTSM00407. IGc1. 1 hit.
[Graphical view]
SUPFAMSSF54452. SSF54452. 1 hit.
PROSITEPS50835. IG_LIKE. 1 hit.
PS00290. IG_MHC. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSHLA-E. human.
EvolutionaryTraceP13747.
GeneWikiHLA-E.
GenomeRNAi3133.
NextBio12427.
PROP13747.
SOURCESearch...

Entry information

Entry nameHLAE_HUMAN
AccessionPrimary (citable) accession number: P13747
Secondary accession number(s): Q30169 expand/collapse secondary AC list , Q9BT83, Q9GIY7, Q9GIY8
Entry history
Integrated into UniProtKB/Swiss-Prot: January 1, 1990
Last sequence update: August 29, 2003
Last modified: April 16, 2014
This is version 149 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM