LongevityMap Gene
Gene details
- HGNC symbol
- SREBF1
- Aliases
- SREBP1; bHLHd1; SREBP1a; SREBP-1c
- Common name
- sterol regulatory element binding transcription factor 1
- Description
- This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
- Cytogenetic Location
- 17p11.2
- UCSC Genome Browser
- View 17p11.2 on the UCSC genome browser
- OMIM
- 184756
- Ensembl
- ENSG00000072310
- UniProt/Swiss-Prot
- A8MTU8_HUMAN
- Entrez Gene
- 6720
- UniGene
- 592123
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
- Caenorhabditis elegans
- sbp-1
- Danio rerio
- srebf1
- Drosophila melanogaster
- HLH106
- Mus musculus
- Srebf1
- Rattus norvegicus
- Srebf1
In other databases
- GenAge microarray genes
- This gene is present as SREBF1
- GenDR gene expression
- A homolog of this gene for Mus musculus is present as Srebf1
- CellAge
- This gene is present as SREBF1
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
- SREBF1
- Reference