USF1 - upstream transcription factor 1 Gene

Homo sapiens

Also known as UEF; FCHL; MLTF; FCHL1; MLTFI; HYPLIP1; bHLHb11

Gene ID: 7391 | Gene type: protein coding

About USF1

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,039,251-161,045,977 (from NCBI)

This gene has 11 transcripts (splice variants), 220 orthologues, 3 paralogues and is associated with 1 phenotype. Ubiquitous expression in spleen (RPKM 29.9), lymph node (RPKM 25.8) and 25 other tissues.

Summary

This gene encodes a member of the basic helix-loop-helix leucine zipper family, and can function as a cellular transcription factor. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs. This gene has been linked to familial combined hyperlipidemia (FCHL). Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been defined on chromosome 21. [provided by RefSeq, Feb 2013]

USF1 Products(3)

mRNA	Protein	Name
NM_001276373.2	NP_001263302.1	upstream stimulatory factor 1 isoform 1
NM_007122.5	NP_009053.1	upstream stimulatory factor 1 isoform 1
NM_207005.3	NP_996888.1	upstream stimulatory factor 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	7852331	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	2249772	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	8576131	GOA
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	8576131	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	19303849	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	19303849	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19303849	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	8576131	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	8576131	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	19303849	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	27141965	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	2249772	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to glucose stimulus	IMP IMP: Inferred from mutant phenotype	7852331	GOA
involved in cellular response to insulin stimulus	IDA IDA: Inferred from direct assay	19303849	GOA
involved in glucose mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	7852331	GOA
involved in late viral transcription	IDA IDA: Inferred from direct assay	2249772	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	7852331	GOA
involved in regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	2249772	GOA
involved in response to hypoxia	IMP IMP: Inferred from mutant phenotype	12917334	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	27141965	GOA
located in nucleus	IDA IDA: Inferred from direct assay	2249772	GOA
part of transcription regulator complex	IDA IDA: Inferred from direct assay	19303849	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

USF1 Protein Structure

HLH

0
100
200
310 a.a.

Protein Preferred Names

Protein Names

upstream stimulatory factor 1

class B basic helix-loop-helix protein 11

Recombinant USF1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700514	USF1 Protein, Human (His)	P22415 (G3-N310)	≥95%

Related Diseases

Diseases

Alias

Hyperlipidemia, Familial Combined, 1

Hyperlipidemia, Familial Combined, Susceptibility To	Hyperlipidemia, Combined, 1
Hyperlipidemia, Familial Combined	FCHL1
Hyplip1	Familial Combined Hyperlipidemia Type 1
Hyperlipidemia Combined, 1	Hyperlipoproteinemia Type Iib

Hyperlipidemia, Familial Combined, 3

Familial Combined Hyperlipidemia	Combined Hyperlipidemia, Familial
Mixed Hyperlipidaemia	FCHL3
Hyperlipidemia, Familial Combined	Familial Multiple Lipoprotein-Type Hyperlipidemia
Hyperbetalipoproteinemia With Prebetalipoproteinemia	Type Iib Hyperlipoproteinemia
Hyperlipidemia Familial Combined	Hyperlipoproteinemia Type Iib
Mixed Hyperlipemia	Hyperlipidaemia, Group C
Familial Hypercholesterolaemia With Hyperlipaemia	Familial Hyperbetalipoproteinaemia And Hyperprebetalipoproteinaemia
Hyperbetalipoproteinaemia With Prebetalipoproteinaemia	Hypercholesterolaemia With Endogenous Hyperglyceridaemia
Prebetalipoproteinemia Hyperbetalipoproteinaemia	Remnant Hyperlipoproteinemia

Familial Hyperlipidemia

Familial Hyperlipoproteinemia	Hyperlipidaemia
Hyperlipoproteinemias	Hyperlipidemia
Hyperlipemia	Hyperlipidemias

Cowden Syndrome

Cowden Disease	Multiple Hamartoma Syndrome
Cowden'S Disease	Lhermitte-Duclos Disease
Cd	Cs
Mham	Dysplastic Gangliocytoma Of Cerebellum
Cowden'S Syndrome	Hamartoma Syndrome, Multiple

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

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

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

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15513	USF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	USF1	VGNC	VGNC:53132
Bos taurus	USF1	VGNC	VGNC:55695
Macaca mulatta	USF1	VGNC	VGNC:100184
Rattus norvegicus	USF1	RGD	RGD:620974
Mus musculus	USF1	MGD	MGI:99542
Felis catus	USF1	VGNC	VGNC:107960
Others	USF1	NCBI

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