Preferred Label : HLA-A wt Allele;
NCIt synonyms : Major Histocompatibility Complex, Class I, A wt Allele; HLAA;
NCIt definition : Human HLA-A wild-type allele is located in the vicinity of 6p21.3 and is approximately
3 kb in length. This allele, which encodes HLA class I histocompatibility antigen,
A-1 alpha chain protein, is involved in immune system peptide presentation.;
NCIt note : 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. Polymorphic alpha1/2 determines peptide
binding specificity. Ig-like alpha3 mediates CD8 binding on cytotoxic T-lymphocytes.
In the immune response, HLA antigens mediate antigen presentation to TCR. HLA-A2 subtypes
are associated with decreased risk of HIV-1 infection and increased frequency of early-onset
Alzheimer disease.;
GenBank Accession Number : NM_002116;
Origin ID : C51075;
UMLS CUI : C1708276;
Automatic exact mappings (from CISMeF team)
- OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_involved_in_pathogenesis_of_disease
- gene_is_element_in_pathway
- gene_plays_role_in_process
