HLA-A Gene Summary [Human]
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 so that they can be recognized by cytotoxic T cells. 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. More than 6000 HLA-A alleles have been described. The HLA system plays an important role in the occurrence and outcome of infectious diseases, including those caused by the malaria parasite, the human immunodeficiency virus (HIV), and the severe acute respiratory syndrome coronavirus (SARS-CoV). The structural spike and the nucleocapsid proteins of the novel coronavirus SARS-CoV-2, which causes coronavirus disease 2019 (COVID-19), are reported to contain multiple Class I epitopes with predicted HLA restrictions. Individual HLA genetic variation may help explain different immune responses to a virus across a population.[provided by RefSeq, Aug 2020]
Details
| Type | Protein Coding |
| Official Symbol | HLA-A |
| Official Name | major histocompatibility complex, class I, A [Source:HGNC Symbol;Acc:HGNC:4931] |
| Ensembl ID | ENSG00000206503 |
| Bio databases IDs | |
| Aliases | major histocompatibility complex, class I, A |
| Synonyms | 0610037M15Rik, A-28, Aw-24, Aw-33, Aw-34, Aw-66, Aw-68, Aw-69, Aw-74, Aw-80, BE136769, EG667977, ENSMUSG00000121510, Gm10499, Gm11132, Gm8909, gs14-2, H2-B1, H2-Bl, H2-Bl-like, H-2D, H2-D1, H-2DD, H2-Gs10, H2-gs17, H-2K, H2-K1, H-2Kd, H-2K(d), H2-Q1, H2-Q10, H2-Q2, H2-Q4, H2-Q6, H2-Q7, H2-T13, H2-T26, H2-T5, H2-T7, H2-Tw5l, histocompatibility 2, blastocyst, histocompatibility 2, D region locus 1, histocompatibility 2, K1, K region, histocompatibility 2, Q region locus 1, histocompatibility 2, Q region locus 10, histocompatibility 2, Q region locus 2, histocompatibility 2, Q region locus 4, histocompatibility 2, Q region locus 6, histocompatibility 2, Q region locus 7, histocompatibility 2, T region locus 26, HLA-C, HLA class I histocompatibility antigen A-23 alpha chain, HLA class I histocompatibility antigen A-23 α chain, Kb, Kd h chain, K-f, LOC100045864, LOC100133382, LOC100364500, LOC100365191, LOC100507703, LOC100862431, LOC100862447, LOC102554995, LOC102557454, LOC103690108, LOC108167390, LOC108348299, LOC108349031, LOC108349033, LOC56628, LOC636948, LOC684280, LOC687138, major histocompatibility complex, class I, A, MHC 1alpha, MHC-A, Mhc class I q2-k antigen, MHC I, Mhc-i-kd, MumuTL, Ped, predicted gene 10499, Q1, Q10, Q1b, Q1d, Q1k, Q9, Qa-1, Qa10, Qa-2, Qa-4, Qa-6, Qa-7, Qat-4, Qb-1, Qed-1, RT1-A, RT1-A1, RT1-A1n, RT1.A1(N), RT1-A2, RT1-A2n, RT1.A2(N), RT1-CE1, RT1-C/E1, RT1-CE10, RT1-CE12, RT1-CE13, RT1-CE15, RT1-CE16, RT1-CE2, RT1-C/E2, RT1-CE3, RT1-C/E3, RT1-CE4, RT1-C/E4, RT1-CE5, RT1-C/E5, RT1-CE7, RT1-C/E7, RT1.Cg, RT1 class Ia, locus A1, RT1 class Ia, locus A2, RT1 class I, locus1, RT1 class I, locus CE10, RT1 class I, locus CE13, RT1 class I, locus CE15, RT1 class I, locus CE16, RT1 class I, locus CE2, RT1 class I, locus CE3, RT1 class I, locus CE4, RT1 class I, locus CE5, RT1 class I, locus CE7, RT1-E2, rt1-El, RT1-Uav1, RT1-Uc, RT1-Ulv1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HLA-A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TAP2 binding
- peptide binding
- MHC class I protein binding
- alpha3 domain
- TAP binding
- TAP1 binding
- TM_EGFR-like
- T-cell receptor binding
- signal peptide
- peptide-binding domain
- alpha2 domain
- identical protein binding
- TAP binding domain
- Class I Histocompatibility antigen, domains alpha 1 and 2
- natural killer cell lectin-like receptor binding
- cytoplasmic domain
- CD8 receptor binding
- intracellular domain
- chaperone binding
- extracellular domain
- Immunoglobulin C1-set domain
- immunoglobulin domain
- alpha helix
- protein binding
- receptor binding
- alpha1 domain
- beta-2-microglobulin binding
- binding protein
- MHC_I C-terminus
- transmembrane domain
- protein homodimerization
- receptor agonist activity
- cytosolic tail domain
- peptide antigen binding
Pathways
Biological processes and signaling networks where the HLA-A gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- hepatitis
- metastatic uveal melanoma
- rheumatoid arthritis
- weight gain
- experimental autoimmune encephalomyelitis
- Alzheimer disease
- insulin-dependent diabetes mellitus
- plasma cell myeloma
- breast cancer
role in cell
- activation in
- expression in
- activation
- survival
- binding
- number
- cellular infiltration by
- inhibition
- cytolysis
- killing
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cell surface
- Extracellular Space
- membrane surface
- cellular membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- plasma membrane extracellular face
- Golgi membrane
- lysosome membrane
- endosomal membrane
- early endosomes
- perinuclear vesicles
- Golgi cisternae
- membrane rafts
- perikaryon
- axons
- dendrites
- presynaptic terminals
- exosomes
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HLA-A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of CD8-positive, alpha-beta T cell activation
- CD8-positive, alpha-beta T cell activation
- antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent
- antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent
- antigen processing and presentation of endogenous peptide antigen via MHC class Ib
- protection from natural killer cell mediated cytotoxicity
- immune response
- peptide antigen assembly with MHC class I protein complex
- antigen processing and presentation of exogenous peptide antigen via MHC class I
- innate immune response
- positive regulation of T cell cytokine production
- positive regulation of interferon-gamma production
- T cell mediated cytotoxicity
- T cell mediated cytotoxicity directed against tumor cell target
- positive regulation of CD8-positive, alpha-beta T cell proliferation
- antigen processing and presentation of endogenous peptide antigen via MHC class I
- antibacterial humoral response
- detection of bacterium
- positive regulation of memory T cell activation
- positive regulation of T cell mediated cytotoxicity
- defense response to Gram-positive bacterium
- T cell receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- MHC class I peptide loading complex
- external side of plasma membrane
- Golgi apparatus
- endoplasmic reticulum
- Golgi membrane
- plasma membrane
- cell surface
- MHC class I protein complex
- Golgi medial cisterna
- early endosome membrane
- endoplasmic reticulum membrane
- extracellular space
- extracellular vesicular exosome
- ER to Golgi transport vesicle membrane
- membrane
- phagocytic vesicle membrane
- endoplasmic reticulum exit site
- recycling endosome membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- peptide antigen binding
- RNA binding
- T cell receptor binding
- beta-2-microglobulin binding
- receptor binding
- CD8 receptor binding
- TAP binding