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

Caenorhabditis elegans: nab-1
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

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

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

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