USF1 - upstream transcription factor 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7391

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

HLH: Helix-loop-helix DNA-binding domain (200 - 254)

  • 0
  • 100
  • 200
  • 310 a.a.
Protein Preferred Names Protein Names

upstream stimulatory factor 1

  • class B basic helix-loop-helix protein 11

USF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
USF1 P22415 FOS Homo sapiens Q6FG41 25416956
Intra
USF1 P22415 FOS Homo sapiens Q6FG41 25416956
Intra
USF1 P22415 FOS Homo sapiens Q6FG41 25416956
Intra
USF1 P22415 MAP3K7CL Homo sapiens P57077-4 32296183
Intra
USF1 P22415 MAP3K7CL Homo sapiens P57077-4 32296183
Intra
USF1 P22415 MAP3K7CL Homo sapiens P57077-4 32296183
Intra
USF1 P22415 USF1 Homo sapiens P22415 32296183
Intra
USF1 P22415 PRKDC Homo sapiens P78527 19303849
Intra
USF1 P22415 USF1 Homo sapiens P22415 32296183
Intra
USF1 P22415 KAT2B Homo sapiens Q92831 19303849
Intra
USF1 P22415 FOSL1 Homo sapiens P15407 32296183
Intra
USF1 P22415 USF1 Homo sapiens P22415 25416956
Intra
USF1 P22415 USF2 Homo sapiens Q15853 19303849
Intra
USF1 P22415 KAT2B Homo sapiens Q92831 19303849
Intra
USF1 P22415 PRKDC Homo sapiens P78527 19303849
Intra
USF1 P22415 FOSL1 Homo sapiens P15407 32296183
Intra
USF1 P22415 USF2 Homo sapiens Q15853 19303849
Intra
USF1 P22415 USF2 Homo sapiens Q15853 33961781
Intra
USF1 P22415 KAT2B Homo sapiens Q92831 19303849
Intra
USF1 P22415 USF1 Homo sapiens P22415 32296183
Intra
USF1 P22415 LAP3 Homo sapiens P28838 32296183
Intra
USF1 P22415 LAP3 Homo sapiens P28838 32296183
Intra
USF1 P22415 LAP3 Homo sapiens P28838 32296183
Intra
USF1 P22415 FGFR3 Homo sapiens P22607 32814053
Intra
USF1 P22415 FGFR3 Homo sapiens P22607 32814053
Intra
USF1 P22415 FGFR3 Homo sapiens P22607 32814053
Intra
USF1 P22415 HRAS Homo sapiens P01112 32814053
Intra
USF1 P22415 HRAS Homo sapiens P01112 32814053
Intra
USF1 P22415 HRAS Homo sapiens P01112 32814053
Intra
USF1 P22415 SNW1 Homo sapiens Q13573 32296183
Intra
USF1 P22415 SNW1 Homo sapiens Q13573 32296183
Intra
USF1 P22415 SNW1 Homo sapiens Q13573 32296183
Intra
USF1 P22415 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
USF1 P22415 UBQLN1 Homo sapiens Q9UMX0 32814053
Intra
USF1 P22415 UBQLN1 Homo sapiens Q9UMX0 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant USF1 Proteins

Cat. No. Product Name Accession Purity
HY-P700514 USF1 Protein, Human (His) P22415 (G3-N310) ≥ 90%, as determined by reducing SDS-PAGE.

USF1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P83564 USF1 Antibody (YA3309) WB Human, Mouse
HY-P83564A USF1 Antibody (YA3309)(PBS only) WB Human, Mouse

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

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