SREBF1 gene

GPTKB entity

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