LongevityMap Gene
Gene details
- HGNC symbol
- ARNTL
- Aliases
- TIC; JAP3; MOP3; BMAL1; PASD3; BMAL1c; bHLHe5
- Common name
- aryl hydrocarbon receptor nuclear translocator like
- Description
- The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
- Cytogenetic Location
- 11p15.3
- UCSC Genome Browser
- View 11p15.3 on the UCSC genome browser
- OMIM
- 602550
- Ensembl
- ENSG00000133794
- UniProt/Swiss-Prot
- A0A140VKD3_HUMAN
- Entrez Gene
- 406
- UniGene
- 65734
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Danio rerio
- arntl1b
- Danio rerio
- arntl1a
- Drosophila melanogaster
- cyc
- Mus musculus
- Arntl
- Rattus norvegicus
- Arntl
In other databases
- GenAge model organism genes
- A homolog of this gene for Mus musculus is present as Arntl
- GenAge human genes
- This gene is present as ARNTL
- GenDR gene expression
- A homolog of this gene for Mus musculus is present as Arntl
Studies (1)
Significant/Non-significant: 0/1
- 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
- rs3789327
- Reference