LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Greek
Study Design
307 individuals (190 nonagenarians, 12 centenarians and 105 middle-aged controls) were genotyped for ACE, NFkB, and CETP genetic variants
Conclusions
No significant difference were found between case group and control group for NFkB and CETP

Variants (3)

CETP

1.
Identifier
rs708272
Cytogenetic Location
16q13
UCSC Genome Browser
View 16q13 on the UCSC genome browser
2.
Identifier
rs5882
In Other Studies (IDs)
1300 1948
Cytogenetic Location
16q13
UCSC Genome Browser
View 16q13 on the UCSC genome browser

Gene details

HGNC symbol
CETP
Aliases
BPIFF; HDLCQ10 
Common name
cholesteryl ester transfer protein 
Description
The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]
Other longevity studies of this gene
17
OMIM
118470
Ensembl
ENSG00000087237
UniProt/Swiss-Prot
A0A0S2Z3F6_HUMAN
Entrez Gene
1071
UniGene
89538
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cetp

In other databases

GenAge human genes
  • This gene is present as CETP

NFKB1

1.
Identifier
rs28362491
Cytogenetic Location
4q24
UCSC Genome Browser
View 4q24 on the UCSC genome browser

Gene details

HGNC symbol
NFKB1
Aliases
p50; KBF1; p105; EBP-1; CVID12; NF-kB1; NFKB-p50; NFkappaB; NF-kappaB; NFKB-p105; NF-kappa-B 
Common name
nuclear factor kappa B subunit 1 
Description
This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]
Other longevity studies of this gene
1
OMIM
164011
Ensembl
ENSG00000109320
UniProt/Swiss-Prot
A0A024RDJ4_HUMAN
Entrez Gene
4790
UniGene
618430
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
Rel
Mus musculus
Nfkb1
Rattus norvegicus
Nfkb1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Nfkb1
GenAge human genes
  • This gene is present as NFKB1

References

Kolovou et al. (2014)

Other variants which are also part of this study