SREBF1 - sterol regulatory element binding transcription factor 1 Gene

Also Known as HMD; IFAP2; SREBP1; bHLHd1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6720

About SREBF1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,811,334-17,836,986 (from NCBI)

This gene has 24 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 35.7), adrenal (RPKM 34.6) and 24 other tissues.

Summary

This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and Other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]

SREBF1 Products (13)

mRNA	Protein	Name
NM_001005291.3	NP_001005291.1	sterol regulatory element-binding protein 1 isoform 1
NM_001321096.3	NP_001308025.1	sterol regulatory element-binding protein 1 isoform 3
NM_001388385.1	NP_001375314.1	sterol regulatory element-binding protein 1 isoform 4
NM_001388386.1	NP_001375315.1	sterol regulatory element-binding protein 1 isoform 5
NM_001388387.1	NP_001375316.1	sterol regulatory element-binding protein 1 isoform 6
NM_001388388.1	NP_001375317.1	sterol regulatory element-binding protein 1 isoform 7
NM_001388389.1	NP_001375318.1	sterol regulatory element-binding protein 1 isoform 8
NM_001388390.1	NP_001375319.1	sterol regulatory element-binding protein 1 isoform 9
NM_001388391.1	NP_001375320.1	sterol regulatory element-binding protein 1 isoform 10
NM_001388392.1	NP_001375321.1	sterol regulatory element-binding protein 1 isoform 11
NM_001388393.1	NP_001375322.1	sterol regulatory element-binding protein 1 isoform 12
NM_001388394.1	NP_001375323.1	sterol regulatory element-binding protein 1 isoform 13
NM_004176.5	NP_004167.3	sterol regulatory element-binding protein 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	24296663	GOA
enables DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	16407292	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	12177166	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	32497488	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	23610160	GOA
enables nuclear receptor activity	IDA IDA: Inferred from direct assay	23610160	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables sterol response element binding	IDA IDA: Inferred from direct assay	16407292	GOA
enables transcription coregulator binding	IPI IPI: Inferred from physical interaction	14701856	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in SREBP signaling pathway	IDA IDA: Inferred from direct assay	27614840	GOA
involved in SREBP signaling pathway	IMP IMP: Inferred from mutant phenotype	27614840	GOA
involved in lipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	32497488	GOA
acts upstream of negative regulation of triglyceride metabolic process	IDA IDA: Inferred from direct assay	28483554	GOA
involved in positive regulation of cholesterol biosynthetic process	IDA IDA: Inferred from direct assay	12177166	GOA
involved in positive regulation of cholesterol biosynthetic process	IMP IMP: Inferred from mutant phenotype	12177166	GOA
involved in positive regulation of miRNA transcription	IDA IDA: Inferred from direct assay	24296663	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12242332	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	23610160	GOA
involved in regulation of mitophagy	IMP IMP: Inferred from mutant phenotype	24912190	GOA
involved in regulation of protein stability	IMP IMP: Inferred from mutant phenotype	24912190	GOA
involved in regulation of protein targeting to mitochondrion	IMP IMP: Inferred from mutant phenotype	24912190	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	32322062	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	12202038	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12202038	GOA
located in nucleus	IMP IMP: Inferred from mutant phenotype	32497488	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SREBF1 Protein Structure

HLH

0
200
400
600
800
1000
1147 a.a.

Protein Preferred Names	Protein Names
sterol regulatory element-binding protein 1	class D basic helix-loop-helix protein 1

SREBF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SREBF1	P36956	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	SREBF1	P36956	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	SREBF1	P36956	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	SREBF1	P36956	ATXN1	Homo sapiens	P54253	Y2H	16713569
Intra	SREBF1	P36956	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	SREBF1	P36956	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	SREBF1	P36956	ATXN1	Homo sapiens	P54253	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

SREBF1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80900	SREBP-1 Antibody	WB, ELISA	Human, Mouse, Rat
HY-P85806	SREBP-1 Antibody (YA5498)	WB, ICC/IF, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Mucoepithelial Dysplasia, Hereditary	Hereditary Mucoepithelial Dysplasia Urban-Schosser-Spohn Syndrome HMD
Ifap Syndrome 2	IFAP2 Ichthyosis Follicularis, Atrichia, And Photophobia Syndrome 2 Ichthyosis, Follicular, With Atrichia And Photophobia Syndrome 2
Ichthyosis Follicularis Atrichia Photophobia Syndrome	Ifap Syndrome
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ifap Syndrome With Or Without Bresheck Syndrome IFAP1 Ichthyosis Follicularis, Atrichia, And Photophobia With Or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And Kidney Dysplasia/Hypoplasia Ichthyosis Follicularis Atrichia Photophobia Syndrome Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1 Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 1 Ifap Syndrome 1 Ifap Syndrome 1 With Or Without Bresheck Syndrome Bresek Syndrome Bresheck Syndrome Ichthyosis Follicularis-Atrichia-Photophobia Syndrome Ifap Syndrome With/Without Bresheck Syndrome Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, And Kidney Dysplasia-Hypoplasia
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Familial Partial Lipodystrophy	Lipodystrophy, Familial Partial Fpld Kobberling-Dunnigan Syndrome Dunnigan Syndrome Koberling-Dunnigan Syndrome Dunnigan-Kobberling Syndrome Fpl Familial Partial Lipodystrophy, Type 2
Fatty Liver Disease	Alcoholic Fatty Liver Fatty Liver Fatty Liver, Alcoholic Fatty Change Of Liver Hepatic Lipidosis Steatosis Of Liver Fatty Liver Alcoholic Steatohepatitis Etoh Fatty Liver Etoh Fatty Liver Metamorphosis Fatty Etoh Liver Necrosis
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Hutchinson-Gilford Progeria Syndrome	Progeria HGPS Hutchinson-Gilford Syndrome Hutchinson-Gilford Progeria Hutchinson Gilford Syndrome Hutchinson Gilford Progeria Syndrome Hutchinson-Gilford Disease Progeria Of Childhood Hutchinson-Gilford-Progeria Syndrome
Hepatocellular Adenoma	Adenoma Hepatocellular
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Lipodystrophy, Familial Partial, Type 2	FPLD2 Lipoatrophic Diabetes Familial Partial Lipodystrophy Type 2 Familial Partial Lipodystrophy, Dunnigan Type Fpl2 Lipoatrophic Diabetes Mellitus Lipodystrophy, Familial Partial, Dunnigan Type Lipodystrophy, Familial, Of Limbs And Lower Trunk Lipodystrophy, Reverse Partial Familial Partial Lipodystrophy Dunnigan Type Dunnigan Syndrome Familial Lipodystrophy Of Limbs And Lower Trunk Reverse Partial Lipodystrophy Lipodystrophy, Familial Partial, 2 Generalized Lipoatrophy Associated With Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy And Leukomelanodermic Papules Lipodystrophy Familial Of Limbs And Lower Trunk Lipodystrophy Reverse Partial Diabetes Mellitus, Lipoatrophic Familial Partial Lipodystrophy, Type 2 Familial Generalized Lipodystrophy
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Lipid Metabolism Disorder	Dyslipidemia Disorder Of Fatty Acid Metabolism Lipid Metabolism Disorders Fatty Acid Metabolism Disorder Disorder Of Lipid Metabolism Abnormality Of Lipid Metabolism Lipid Metabolism, Inborn Errors Dyslipidemias Disorders Of Lipid Metabolism Congenital Disorders Of Lipid Metabolism Inherited Disorders Of Lipid Metabolism
Hyperinsulinism	Hyperinsulinemia
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Choline Deficiency Disease	Choline Deficiency
Leptin Deficiency Or Dysfunction	Morbid Obesity Obesity Due To Congenital Leptin Deficiency LEPD Congenital Leptin Deficiency Obesity, Morbid Obesity, Morbid, Due To Leptin Deficiency Severe Obesity Obesity, Morbid, Nonsyndromic 1 Leptin Deficiency Obesity, Severe, Due To Leptin Deficiency Leptin Morbid Obesity Due To Leptin Deficiency Obesity Morbid Leptin Dysfunction
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Overnutrition
Acquired Metabolic Disease
Diabetes Mellitus	Diabetes
Ichthyosis	Ichthyoses Non-Syndromic Ichthyosis Congenital Ichthyosis
Congenital Generalized Lipodystrophy	Berardinelli-Seip Congenital Lipodystrophy Berardinelli-Seip Syndrome Brunzell Syndrome Bscl Generalized Lipodystrophy Lipodystrophy, Congenital Generalized Seip Syndrome Total Lipodystrophy Cgl Lipoatrophic Diabetes Lipodystrophy, Generalized, Congenital Familial Generalized Lipodystrophy Congenital Generalized Lipodystrophy Type 2 Lipoatrophic Diabetes Mellitus Familial Partial Lipodystrophy, Type 2
Hepatocellular Carcinoma	Liver Cancer Primary Liver Cancer HCC Hepatoma Malignant Neoplasm Of Liver Liver Neoplasms Cancer, Hepatocellular Liver Cell Carcinoma Lcc Hepatoblastoma, Somatic Hepatic Cancer Primary Malignant Neoplasm Of Liver Rare Tumor Of Liver And Intrahepatic Biliary Tract Hepatocellular Carcinoma, Somatic Hepatocellular Carcinoma, Childhood Type, Somatic Hepatocellular Cancer, Somatic Ca Liver - Primary Hepatic Neoplasm Malignant Hepato-Biliary Neoplasm Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary Malignant Neoplasm Of Liver, Primary Malignant Tumor Of Liver Neoplasm Of Liver Non-Resectable Primary Hepatic Malignant Neoplasm Resectable Malignant Neoplasm Of Liver Resectable Malignant Neoplasm Of The Liver Primary Liver Carcinoma Primary Malignant Liver Neoplasm Primary Cancer Of Liver Primary Tumor Of The Liver Rare Tumor Of Liver And Ibt Hepatocellular Cancer Neoplasm Of The Liver Carcinoma, Hepatocellular Hepatomas Liver Neoplasm Liver Carcinoma Liver And Intrahepatic Biliary Tract Carcinoma Malignant Hepatobiliary Neoplasm Adult Primary Hepatocellular Carcinoma Hepatoblastoma Carcinoma Of Liver Malignant Liver Tumour Malignant Hepatic Tumour
Prostate Cancer	Prostate Carcinoma Prostate Cancer, Familial Prostate Neoplasm Prostate Cancer, Somatic Prostate Cancer, Susceptibility To Prostatic Cancer Prostatic Neoplasms Hereditary Prostate Cancer Prostatic Neoplasm Cancer Of Prostate Carcinoma Of Prostate Familial Prostate Cancer Familial Prostate Carcinoma Malignant Tumor Of Prostate Malignant Neoplasm Of Prostate Prostate Cancer, Familial, Susceptibility To Malignant Tumor Of The Prostate Ngp - New Growth Of Prostate Tumor Of The Prostate Prostate Cancer, Hereditary Cancer Of The Prostate Malignant Neoplasm Of The Prostate Prostatic Carcinoma PC Prca Cancer, Prostate Malignant Prostatic Tumour Malignant Tumour Of Prostate Primary Prostate Cancer Primary Malignant Neoplasm Of Prostate Prostate Gland Cancer
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P1856	Proinsulin C-peptide (human)	Inhibitor	99.54%	Unkown
HY-50670	DGAT-1 inhibitor 2		95.33%	Unkown
HY-RS13757	SREBF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-184415	Syk/HDAC6-IN-1		/	Unkown
HY-RS17721	Srebf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24186	Srebf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29460	SREBF1 Pig Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SREBF1	MGD	MGI:107606
Macaca mulatta	SREBF1	VGNC	VGNC:77880
Bos taurus	SREBF1	VGNC	VGNC:35274
Felis catus	SREBF1	VGNC	VGNC:65675
Rattus norvegicus	SREBF1	RGD	RGD:69423
Canis familiaris	SREBF1	VGNC	VGNC:46795
Others	SREBF1	NCBI