U.S. flag

An official website of the United States government

GTR Home > Genes

HLA-A major histocompatibility complex, class I, A

Gene ID: 3105, updated on 7-Apr-2024
Gene type: protein coding
Also known as: HLAA

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 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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide association study in Han Chinese identifies multiple susceptibility loci for IgA nephropathy.
GeneReviews: Not available
A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.
GeneReviews: Not available
A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
GeneReviews: Not available
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
GeneReviews: Not available
Carbamazepine response
MedGen: CN077964GeneReviews: Not available
See labs
Common genetic variation and the control of HIV-1 in humans.
GeneReviews: Not available
Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
GeneReviews: Not available
Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
GeneReviews: Not available
Genome-wide association study reveals multiple nasopharyngeal carcinoma-associated loci within the HLA region at chromosome 6p21.3.
GeneReviews: Not available
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.
GeneReviews: Not available
Susceptibility to severe cutaneous adverse reaction
MedGen: C1840548OMIM: 608579GeneReviews: Not available
See labs
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
GeneReviews: Not available

Genomic context

Location:
6p22.1
Sequence:
Chromosome: 6; NC_000006.12 (29942532..29945870)
Total number of exons:
8

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.