LongevityMap Gene

Gene details

HGNC symbol
HLA-B 
Aliases
AS; HLAB; B-4901 
Common name
major histocompatibility complex, class I, B 
Description
HLA-B 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, exon 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-B alleles have been described. [provided by RefSeq, Jul 2008]
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser
OMIM
142830
Ensembl
ENSG00000234745
UniProt/Swiss-Prot
1B07_HUMAN
Entrez Gene
3106
UniGene
77961
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

Studies (4)

Significant/Non-significant: 0/4

Study 1

Longevity Association
Non-significant
Population
Dutch
Study Design
964 inhabitants aged 85 years and over and 2444 young controls, aged 20-35 years, with an identical ethnic and demographic background were examined
Conclusions
Without correcting for multiple testing, HLA-B40 was lower in the group of 85 years and over, as compared to the control group
Indentifier
HLA-B40
Reference

    Study 2

    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-B
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      Bulgarian
      Study Design
      14 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 HLB alleles in elderly Bulgarians were B18 and B*51, though differences were not statistically significant after correcting for multiple testing
      Indentifier
      HLA-B
      Reference

        Study 4

        Longevity Association
        Non-significant
        Population
        Mexican
        Study Design
        71 healthy elders were studied, ages ranged from 80 to 96 years (mean 86.2 years). The control samples were obtained from 99 young (from 21 - 54 years; mean 35.2 years) healthy individuals unrelated to elders.
        Conclusions
        The frequencies of the alleles tested were not statistically different among groups
        Indentifier
        HLA-B
        Reference