LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
Japanese
Study Design
Three most common alleles of the APOE gene were examined in three cohorts (Spanish, Italian and Japanese) to study their association with longevity.
Conclusions
E4 allele was negatively associated with longevity in three cohorts, while the E2 allele was positively associated in Italian and Japanese cohorts.

Variants (3)

DBT

1.
Identifier
E2
In Other Studies (IDs)
2180 2185
Cytogenetic Location
1p21.2
UCSC Genome Browser
View 1p21.2 on the UCSC genome browser

Gene details

HGNC symbol
DBT
Aliases
E2; E2B; BCATE2; BCKADE2; BCKAD-E2; BCOADC-E2 
Common name
dihydrolipoamide branched chain transacylase E2 
Description
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
248610
Ensembl
ENSG00000137992
UniProt/Swiss-Prot
ODB2_HUMAN
Entrez Gene
1629
UniGene
709187
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ZK669.4
Danio rerio
dbt
Drosophila melanogaster
CG5599
Mus musculus
Dbt
Rattus norvegicus
Dbt
Saccharomyces cerevisiae
KGD2

DLD

1.
Identifier
E3
In Other Studies (IDs)
2183 2188
Cytogenetic Location
7q31.1
UCSC Genome Browser
View 7q31.1 on the UCSC genome browser

Gene details

HGNC symbol
DLD
Aliases
E3; LAD; DLDD; DLDH; GCSL; PHE3 
Common name
dihydrolipoamide dehydrogenase 
Description
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Other longevity studies of this gene
2
OMIM
238331
Ensembl
ENSG00000091140
UniProt/Swiss-Prot
A0A024R713_HUMAN
Entrez Gene
1738
UniGene
131711
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
dld-1
Danio rerio
dldh
Drosophila melanogaster
CG7430
Mus musculus
Dld
Rattus norvegicus
Dld
Saccharomyces cerevisiae
LPD1
Schizosaccharomyces pombe
dld1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as dld-1
  • A homolog of this gene for Saccharomyces cerevisiae is present as LPD1

UBE4B

1.
Identifier
E4
In Other Studies (IDs)
384 2190 3472
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
UBE4B
Aliases
E4; UFD2; HDNB1; UBOX3; UFD2A 
Common name
ubiquitination factor E4B 
Description
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes an additional conjugation factor, E4, which is involved in multiubiquitin chain assembly. This gene is also the strongest candidate in the neuroblastoma tumor suppressor genes. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
613565
Ensembl
ENSG00000130939
UniProt/Swiss-Prot
UBE4B_HUMAN
Entrez Gene
10277
UniGene
593974
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ufd-2
Danio rerio
ube4b
Drosophila melanogaster
CG9934
Mus musculus
Ube4b
Rattus norvegicus
Ube4b
Saccharomyces cerevisiae
UFD2
Schizosaccharomyces pombe
ufd2

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as UFD2

References

Garatachea et al. (2014)

Other variants which are also part of this study