LongevityMap Gene

Gene details

HGNC symbol
HLA-A 
Aliases
HLAA 
Common name
major histocompatibility complex, class I, A 
Description
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]
Cytogenetic Location
6p22.1
UCSC Genome Browser
View 6p22.1 on the UCSC genome browser
OMIM
142800
Ensembl
ENSG00000206503
UniProt/Swiss-Prot
1A01_HUMAN
Entrez Gene
3105
UniGene
181244
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

Studies (2)

Significant/Non-significant: 0/2

Study 1

Longevity Association
Non-significant
Population
Irish (Belfast)
Study Design
100 control samples (59% female, 41% male with an age-range of 19-45 years old) and 93 aged samples (70% female, 30% male with an age-range of 80-97 years old) were examined
Conclusions
No age-related allele or genotype frequencies were observed
Indentifier
HLA-A
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Bulgarian
    Study Design
    12 alleles were examined in 17 unrelated elderly (age 65-90 years; 6 males and 11 females), 23 family members (age 18-57 years; 9 males and 14 females), and a control group with 105 randomly selected, matched for geographical distribution healthy controls aged 25-53 years (40 male and 65 female)
    Conclusions
    The most frequent HLA alleles in elderly Bulgarians were A01 and A02. A number of haplotypes were also found to be more frequent in elderly Bulgarians compared to the controls, though this was not statistically significant after correcting for multiple testing.
    Indentifier
    HLA-A
    Reference