LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Japanese
- Study Design
- 82 centenarians (64 females, 100- 106y, average 101.1y), 20 nonagenarians (16 females, 90- 99y, average 96.5y) and 159 healthy adults (81 females, 18- 88y, average 58.1y) were genotyped for associations with longevity involving 80 HLA antigen phenotypes.
- Conclusions
- Extremely low frequency of HLA-DRw9 and an increased frequency of DR1 were found in centenarians and nonagenarians populations. HLA-DRw9 was a risk factor for longevity (corrected P = 0.0001). HLA-DR1 was a favourable factor for longevity (corrected P = 0.00367). High frequency of HLA-DRw9 and low frequency of DR1 are known to be associated with autoimmune or immune deficiency diseases.
- Identifier
- HLA-DRB1
- In Other Studies (IDs)
- 21
- Cytogenetic Location
- 6p21.32
- UCSC Genome Browser
- View 6p21.32 on the UCSC genome browser
Gene details
- HGNC symbol
- HLA-DRB1
- Aliases
- SS1; DRB1; HLA-DRB; HLA-DR1B
- Common name
- major histocompatibility complex, class II, DR beta 1
- Description
- HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa. It is encoded by 6 exons. Exon one encodes the leader peptide; exons 2 and 3 encode the two extracellular domains; exon 4 encodes the transmembrane domain; and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five times higher than its paralogs DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 8
- OMIM
- 142857
- Ensembl
- ENSG00000196126
- UniProt/Swiss-Prot
- 2B13_HUMAN
- Entrez Gene
- 3123
- UniGene
- 534322
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- mhc2dab
- Danio rerio
- si:dkey-33b17.3
- Danio rerio
- zgc:103700
- Danio rerio
- mhc2dbb
- Danio rerio
- mhc2dab
- Danio rerio
- zgc:103700
- Danio rerio
- si:zfos-2070c2.3
- Danio rerio
- mhc2dab
- Danio rerio
- si:busm1-228j01.6
- Danio rerio
- si:busm1-228j01.4
- Danio rerio
- mhc2dab
- Danio rerio
- si:ch73-158p21.3
- Danio rerio
- si:busm1-194e12.12
- Danio rerio
- si:busm1-228j01.4
- Danio rerio
- si:busm1-104n07.3
- Mus musculus
- H2-Eb2
- Mus musculus
- H2-Eb1
- Rattus norvegicus
- RT1-Db2
- Rattus norvegicus
- RT1-Db1