|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:activatedBy
|
proteolytic cleavage
|
|
gptkbp:alias
|
gptkb:SP1
SREBP1
bHLHd1
|
|
gptkbp:alternativeSplicing
|
produces SREBP-1a and SREBP-1c isoforms
|
|
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:firstDescribed
|
1993
|
|
gptkbp:fullName
|
Sterol regulatory element-binding transcription factor 1
|
|
gptkbp:function
|
DNA binding
transcription factor activity
regulation of lipid homeostasis
transcriptional activation of genes involved in cholesterol and fatty acid synthesis
|
|
gptkbp:GOProcess
|
cholesterol homeostasis
fatty acid metabolic process
lipid biosynthetic process
|
|
gptkbp:HGNC_ID
|
HGNC:11289
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SREBF1
|
|
gptkbp:length
|
1147 amino acids (SREBP-1a)
1151 amino acids (SREBP-1c)
|
|
gptkbp:locatedOnChromosome
|
17p11.2
|
|
gptkbp:molecularWeight
|
~125 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:type_2_diabetes
gptkb:non-alcoholic_fatty_liver_disease
gptkb:metabolic_syndrome
obesity
|
|
gptkbp:OMIM
|
184756
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Srebf1
|
|
gptkbp:regulates
|
gptkb:FASN
gptkb:HMGCR
gptkb:insulin
gptkb:LDLR
gptkb:ACACA
SCD
nutritional status
basic helix-loop-helix leucine zipper (bHLH-Zip)
INSIG1
SREBF2
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
endoplasmic reticulum membrane
|
|
gptkbp:UniProtID
|
Q12772
|
|
gptkbp:bfsParent
|
gptkb:chromosome_17
|
|
gptkbp:bfsLayer
|
6
|