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:type_2_diabetes
gptkb:non-alcoholic_fatty_liver_disease lipodystrophy |
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:skeletal_muscle
brain liver adipose tissue |
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
|
https://www.w3.org/2000/01/rdf-schema#label |
SREBF1 gene
|
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 |
7
|