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

Danio rerio
srebf1
Mus musculus
Srebf1
Rattus norvegicus
Srebf1

In other databases

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