LongevityMap Gene

Gene details

HGNC symbol
PPP1R9A 
Aliases
NRB1; NRBI; Neurabin-I 
Common name
protein phosphatase 1 regulatory subunit 9A 
Description
This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
OMIM
602468
Ensembl
ENSG00000158528
UniProt/Swiss-Prot
A4D1I0_HUMAN
Entrez Gene
55607
UniGene
21816
1000 Genomes
1000 Genomes

Homologs in model organisms

Danio rerio
ppp1r9a
Drosophila melanogaster
Spn
Mus musculus
Ppp1r9a
Rattus norvegicus
Ppp1r9a

Studies (4)

Significant/Non-significant: 0/4

Study 1

Longevity Association
Non-significant
Population
American (Caucasian)
Study Design
Genome-wide association study for longevity-related traits in up to 1345 Framingham Study participants from 330 families; 713 participants achieved age 65 years or greater. A total of 79 potential candidate genes and regions associated with longevity were also studied.
Conclusions
Although no genome-wide associations were significant, mutiple SNPs and genes had suggestive associations with both age at death and morbidity-free survival at age 65 years
Indentifier
rs2374983
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    American (Caucasian)
    Study Design
    Genome-wide association study for longevity-related traits in up to 1345 Framingham Study participants from 330 families; 713 participants achieved age 65 years or greater. A total of 79 potential candidate genes and regions associated with longevity were also studied.
    Conclusions
    Although no genome-wide associations were significant, several SNPs in some previously associated genes with longevity had suggestive associations with age at death or morbidity-free survival at age 65 years. Noteworthy results included two SNPs within FOXO1A (rs10507486 and rs4943794) associated with age at death.
    Indentifier
    rs2374983
    Reference

      Study 3

      Longevity Association
      Non-significant
      Population
      Italian (Southern)
      Study Design
      A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
      Conclusions
      After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
      Indentifier
      rs854544
      Reference

        Study 4

        Longevity Association
        Non-significant
        Population
        Danish
        Study Design
        38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
        Conclusions
        No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
        Indentifier
        rs2374983
        Reference