Protein : SREBF1


Name	SREBF1
Description	sterol regulatory element binding transcription factor 1
Owner	Public
URN	urn:agi-llid:6720
Connectivity	128
Notes	This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants have been described, but their full length sequences have not been determined.
Hugo ID	11289


Alias	ADD-1
	SREBP-1
	SREBP-1c
	Sterol regulatory element binding protein-1
	D630008H06
	Srebf1
	SREBP1
	SREBP-1a
	SREBP-1/ADD1
	sterol regulatory element binding transcription factor 1
	sterol regulatory element binding transcription factor I
	Sterol regulatory element binding protein I
	Srebf I
	ADD1/SREBP-1
	ADD1/SREBP
	Srebf Is
	Srebf1s
	SREBP1s
	SREBP Is
	ADD1/SREBP-1c
	sterol regulatory element binding factor 1
	sterol regulatory element binding factor I
	SREBP
	SREBP I


FunctionalClass	DNA binding
	transcription regulator
	RNA polymerase II transcription factor
	transcription factor


RGD ID	69423


Hugo Symbol	SREBF1


GO Cellular Component	Golgi stack
	endoplasmic reticulum membrane
	integral to membrane
	nuclear membrane
	Golgi apparatus
	endoplasmic reticulum
	nucleus


Cell Localization	Nucleus


Pathway	Caspases
	TNFRSF6 -> SREBF1 signalling pathway
	IGF1R -> SREBF1 signalling pathway
	ITGB1 -> SREBF1 signalling pathway
	LDLR -> SREBF1 signalling pathway
	FGF7-FGFR2
	FGF7-GPC1
	GH1-IGF1R
	GH1-PRLR
	IGF1-BST1
	IGF1-IGF2R
	IGF1-LRP5
	INS-EGFR
	INS-HLA-DRB1
	INS-TFRC
	LEP-LEPR
	LEP-LRP2
	TG-LDLR
	TNF-IL15RA
	TNF-NGFR
	TNF-TNFRSF1B
	VEGF-CD44
	VEGF-EGFR
	VEGF-FLT1
	VEGF-FLT4
	VEGF-GPC1
	VEGF-IL1R1
	DuPont 4
	Volcano 2
	PPAR all
	PPARgamma
	FXR
	PPARalpha
	LXR
	RXR
	ERalpha
	HNF4a
	TR
	NR common targets
	NR common regulators


GO Biological Process	regulation of transcription from Pol II promoter
	cholesterol metabolism
	lipid metabolism
	regulation of transcription from RNA polymerase II promoter
	steroid metabolism
	lipid biosynthesis
	regulation of transcription
	regulation of transcription, DNA-dependent
	transcription


Group	Transcription factors


State	isoform A
	isoform B


State Description	Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
	Transcript Variant: This variant (2) lacks an in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.


MGI ID	107606


Swiss-Prot Accession	P36956


OMIM ID	184756
	OMIM:184756


Source	Curated