LongevityMap Gene
Gene details
- HGNC symbol
- LAMTOR3
- Aliases
- MP1; MAPBP; MAPKSP1; PRO0633; MAP2K1IP1; Ragulator3
- Common name
- late endosomal/lysosomal adaptor, MAPK and MTOR activator 3
- Description
- This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]
- Cytogenetic Location
- 4q23
- UCSC Genome Browser
- View 4q23 on the UCSC genome browser
- OMIM
- 603296
- Ensembl
- ENSG00000109270
- UniProt/Swiss-Prot
- LTOR3_HUMAN
- Entrez Gene
- 8649
- UniGene
- 433332
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- 1,018 SNPs within a 10-kb window around 40 mTOR signalling genes were studied for differences in variation between 417 unrelated nonagenarian participants and 476 younger controls
- Conclusions
- As a whole, there was a significant association of genetic variation in the mTOR pathway and familial longevity, though no individual gene was significant after correcting for multiple hypothesis testing
- Indentifier
- LAMTOR3
- Reference