• Gene id: 7391

Gene Summary

• Gene Symbol: USF1   Gene   UCSC   Ensembl
• Aliases: FCHL, FCHL1, HYPLIP1, MLTF, MLTFI, UEF, bHLHb11
• Gene name: upstream transcription factor 1
• Alternate names: upstream stimulatory factor 1, class B basic helix-loop-helix protein 11, major late transcription factor 1,
• Gene location: 1q23.3 (161045978: 161039250)     Exons: 12     NC_000001.11
• Gene summary(Entrez): 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 gen
• OMIM: 191523

SNPs

rs2774276

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.161041926G>A
NC_000001.11   g.161041926G>C
NC_000001.10   g.161011716G>A
NC_000001.10   g.161011716G>C
NG_011612.1   g.9042C>T
NG_011612.1   g.9042C>G|SEQ=[G/A/C]|GENE=USF1

rs2516838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.161044580C>G
NC_000001.10   g.161014370C>G
NG_011612.1   g.6388G>C|SEQ=[C/G]|GENE=USF1

rs1556259

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.161044859A>G
NC_000001.11   g.161044859A>T
NC_000001.10   g.161014649A>G
NC_000001.10   g.161014649A>T
NG_011612.1   g.6109T>C
NG_011612.1   g.6109T>A|SEQ=[A/G/T]|GENE=USF1

Protein Summary

• Protein general information: P22415  
  • Name: Upstream stimulatory factor 1 (Class B basic helix loop helix protein 11) (bHLHb11) (Major late transcription factor 1)
  • Length: 310  
  • Mass: 33,538
• Sequence:

  MKGQQKTAETEEGTVQIQEGAVATGEDPTSVAIASIQSAATFPDPNVKYVFRTENGGQVMYRVIQVSEGQLDGQT
  EGTGAISGYPATQSMTQAVIQGAFTSDDAVDTEGTAAETHYTYFPSTAVGDGAGGTTSGSTAAVVTTQGSEALLG
  QATPPGTGQFFVMMSPQEVLQGGSQRSIAPRTHPYSPKSEAPRTTRDEKRRAQHNEVERRRRDKINNWIVQLSKI
  IPDCSMESTKSGQSKGGILSKACDYIQELRQSNHRLSEELQGLDQLQLDNDVLRQQVEDLKNKNLLLRAQLRHHG
  LEVVIKNDSN

• Structural information:
  • Protein Domains: bHLH. (199-254)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • PDB: 1AN4
  • PDBsum: 1AN4
  • DIP: 654
  • STRING: ENSP00000356999
• Other Databases: GeneCards:  USF1  Malacards:  USF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000430	regulation of transcription from RNA polymerase II promoter by glucose	IC	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	ISS	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	IMP	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IMP	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	IDA	cellular component
GO:0006006	glucose metabolic process	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0009411	response to UV	ISS	biological process
GO:0019086	late viral transcription	IDA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0042593	glucose homeostasis	TAS	biological process
GO:0042803	protein homodimerization activity	TAS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045990	carbon catabolite regulation of transcription	TAS	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0051918	negative regulation of fibrinolysis	IC	biological process
GO:0055088	lipid homeostasis	ISS	biological process
GO:0000430	regulation of transcription from RNA polymerase II promoter by glucose	IC	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	IEA	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	ISS	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	IMP	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IEA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IMP	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	IDA	cellular component
GO:0006006	glucose metabolic process	IEA	biological process
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0009411	response to UV	IEA	biological process
GO:0009411	response to UV	ISS	biological process
GO:0019086	late viral transcription	IDA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0042593	glucose homeostasis	TAS	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0042803	protein homodimerization activity	TAS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045990	carbon catabolite regulation of transcription	TAS	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0051918	negative regulation of fibrinolysis	IC	biological process
GO:0055088	lipid homeostasis	IEA	biological process
GO:0055088	lipid homeostasis	ISS	biological process
GO:0000430	regulation of transcription from RNA polymerase II promoter by glucose	IC	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	ISS	biological process
GO:0000432	positive regulation of transcription from RNA polymerase II promoter by glucose	IMP	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IMP	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IDA	molecular function
GO:0003705	transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005667	transcription factor complex	IDA	cellular component
GO:0006357	regulation of transcription from RNA polymerase II promoter	TAS	biological process
GO:0006366	transcription from RNA polymerase II promoter	IDA	biological process
GO:0009411	response to UV	ISS	biological process
GO:0019086	late viral transcription	IDA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0019901	protein kinase binding	IPI	molecular function
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0042593	glucose homeostasis	TAS	biological process
GO:0042803	protein homodimerization activity	TAS	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0043425	bHLH transcription factor binding	IPI	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0045990	carbon catabolite regulation of transcription	TAS	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0051918	negative regulation of fibrinolysis	IC	biological process
GO:0055088	lipid homeostasis	ISS	biological process

Diseases

Associated diseases	References
Atherosclerosis	GAD: 18276913
Coronary heart disease	GAD: 17673701
Cardiovascular disease	GAD: 16699592
Carotid artery diseases	GAD: 18577828
Hypertriglyceridemia	KEGG: H01637
Diabetes	GAD: 16186412
Metabolic syndrome	GAD: 20054229
Obesity	GAD: 19533890
Familial combined hyperlipidemia	KEGG: H00153
Hyperlipidemia	OMIM: 191523
Lipolysis	GAD: 15985485
Alzheimer's disease	GAD: 16870626
Non obstructive azoospermia	MIK: 25374392
Endometriosis	INFBASE: 26453052
Non-obstruction azoospermia (NOA)	MIK: 25374392

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25374392	Non-obstruction azoospermia (NOA)	USF1 (rs1556259, rs2516838, and rs2774276), OR2W3 (rs11204546), GTF2A1L (rs11677854)	Chinese Han	729 (361 NOA cases, 368 controls)	Male infertility	USF1  GTF2A1L and OR2W3