Homo sapiens Gene: HLA-A
Summary
InnateDB Gene IDBG-298637.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HLA-A
Gene Name major histocompatibility complex, class I, A
Synonyms HLAA
Species Homo sapiens
Ensembl Gene ENSG00000206503
Encoded Proteins
major histocompatibility complex, class I, A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary HLA-A 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. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 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. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-A alleles have been described. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:29941260-29945884
Strand Forward strand
Band p22.1
Transcripts
ENST00000620168 ENSP00000478009
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.
Experimentally validated
Total 46 [view]
Protein-Protein 44 [view]
Protein-DNA 1 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0030881 beta-2-microglobulin binding
GO:0042605 peptide antigen binding
GO:0046977 TAP binding
Biological Process
GO:0001916 positive regulation of T cell mediated cytotoxicity
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent
GO:0002480 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent
GO:0006955 immune response
GO:0016032 viral process
GO:0019221 cytokine-mediated signaling pathway
GO:0019882 antigen processing and presentation
GO:0042270 protection from natural killer cell mediated cytotoxicity
GO:0042590 antigen processing and presentation of exogenous peptide antigen via MHC class I
GO:0050776 regulation of immune response
GO:0060333 interferon-gamma-mediated signaling pathway
GO:0060337 type I interferon signaling pathway
Cellular Component
GO:0000139 Golgi membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0009986 cell surface
GO:0012507 ER to Golgi transport vesicle membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030670 phagocytic vesicle membrane
GO:0031901 early endosome membrane
GO:0042612 MHC class I protein complex
GO:0070062 extracellular vesicular exosome
GO:0071556 integral component of lumenal side of endoplasmic reticulum membrane
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Antigen Presentation: Folding, assembly and peptide loading of class I MHC pathway
Endosomal/Vacuolar pathway pathway
ER-Phagosome pathway pathway
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell pathway
Interferon alpha/beta signaling pathway
Interferon gamma signaling pathway
Cytokine Signaling in Immune system pathway
Interferon Signaling pathway
Antigen processing-Cross presentation pathway
Adaptive Immune System pathway
Immune System pathway
Class I MHC mediated antigen processing & presentation pathway
KEGG
Cell adhesion molecules (CAMs) pathway
Antigen processing and presentation pathway
Type I diabetes mellitus pathway
Natural killer cell mediated cytotoxicity pathway
Allograft rejection pathway
Autoimmune thyroid disease pathway
Graft-versus-host disease pathway
Endocytosis pathway
Viral myocarditis pathway
Phagosome pathway
INOH
PID NCI
TCR signaling in naïve CD8+ T cells
Downstream signaling in naïve CD8+ T cells
IL12-mediated signaling events
AP-1 transcription factor network
Cross-References
SwissProt
TrEMBL A0ZXY8 A7MAP4 B4DVC4 G1DUW4 O19689 O78086 Q0MSI1 Q2L4E7
UniProt Splice Variant
Entrez Gene 3105
UniGene
RefSeq NM_002116
HUGO HGNC:4931
OMIM 142800
CCDS CCDS34373
HPRD
IMGT
EMBL AJ878879 AK301019 AM413001 AM849481 DQ848675 JN021278 M27971 Y17001
GenPept AAA59602 ABH11696 AEJ87324 BAG62636 CAA76575 CAI48029 CAL85627 CAO98726
RNA Seq Atlas 3105