Description: Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 1, mRNA. RefSeq Summary (NM_001005291): This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]. Transcript (Including UTRs) Position: hg19 chr17:17,714,663-17,740,325 Size: 25,663 Total Exon Count: 20 Strand: - Coding Region Position: hg19 chr17:17,715,936-17,740,131 Size: 24,196 Coding Exon Count: 20
atherosclerosis Vedie, B. et al. 2001, A new DNA polymorphism in the 5' untranslated region of the human SREBP-1a is related to development of atherosclerosis in high cardiovascular risk population., Atherosclerosis. 2001 Feb;154(3):589-97.
[PubMed 11257259]
Thus, we have identified a new polymorphism in the 5' untranslated region of the SREBP-1a gene, and demonstrated its association with an atherogenic lipid profile and echographic plaques.
diabetes, type 2 Harding, A. H. et al. 2006, Polymorphisms in the gene encoding sterol regulatory element-binding factor-1c are associated with type 2 diabetes, Diabetologia 2006 49(11) 2642-8.
[PubMed 17019602]
In summary, we replicated our previous finding and found evidence for SNPs in the 5 region of the SREBF1c gene to be associated with the risk of type 2 diabetes and plasma glucose concentration.
obesity Eberle, D. et al. 2004, SREBF-1 Gene Polymorphisms Are Associated With Obesity and Type 2 Diabetes in French Obese and Diabetic Cohorts, Diabetes. 2004 Aug;53(8):2153-7.
[PubMed 15277400]
Our results indicate a role of the SREBF-1 gene in genetic predisposition of metabolic diseases such as obesity, type 2 diabetes, and dyslipidemia.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P36956-4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
