Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
SREBP1
bHLHd sterol regulatory element binding factor 1 |
| gptkbp:alternativeSplicing |
produces SREBP-1a and SREBP-1c isoforms
|
| gptkbp:associatedWith |
gptkb:lipodystrophy
gptkb:type_2_diabetes gptkb:non-alcoholic_fatty_liver_disease |
| gptkbp:biologicalProcess |
DNA binding
transcription factor activity fatty acid biosynthetic process lipid metabolic process cholesterol biosynthetic process |
| gptkbp:cellularComponent |
gptkb:nucleus
gptkb:Golgi_apparatus endoplasmic reticulum membrane |
| gptkbp:discoveredBy |
gptkb:Brown_and_Goldstein_lab
|
| gptkbp:encodes |
SREBP-1 protein
|
| gptkbp:Entrez_Gene_ID |
6720
ENSG00000072310 |
| gptkbp:expressedIn |
gptkb:adipose_tissue
gptkb:skeletal_muscle brain liver |
| gptkbp:fullName |
Sterol regulatory element-binding transcription factor 1
|
| gptkbp:function |
regulation of lipid homeostasis
transcriptional activation of genes involved in cholesterol and fatty acid synthesis |
| gptkbp:HGNC_ID |
HGNC:11291
|
| gptkbp:locatedOnChromosome |
17
17p11.2 |
| gptkbp:mutationAssociatedWith |
can cause insulin resistance
can cause metabolic syndrome |
| gptkbp:OMIM |
184756
|
| gptkbp:orthologIn |
mouse Srebf1 gene
|
| gptkbp:pathway |
SREBP signaling pathway
lipid metabolism pathway |
| gptkbp:proteinFamily |
basic helix-loop-helix leucine zipper (bHLH-Zip) transcription factors
|
| gptkbp:regulates |
gptkb:insulin
gptkb:mTOR_pathway gptkb:liver_X_receptor_(LXR) nutritional status SCD gene ACACA gene FASN gene activated by low cellular cholesterol cleaved in the Golgi apparatus sterol regulatory element (SRE) |
| gptkbp:species |
gptkb:Homo_sapiens
|
| gptkbp:UniProtID |
P36956
|
| gptkbp:bfsParent |
gptkb:SREBP-1c
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
SREBF1 gene
|