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Gene id

7391

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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 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]

OMIM

191523

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
Prosite:	PS50888
Pfam:	PF00010
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 transcripti on from RNA polymerase II promoter by glucose	IC	biological_process
GO:0000432	positive regulation of tr anscription from RNA poly merase II promoter by glu cose	ISS	biological_process
GO:0000432	positive regulation of tr anscription from RNA poly merase II promoter by glu cose	IMP	biological_process
GO:0001666	response to hypoxia	IMP	biological_process
GO:0003690	double-stranded DNA bindi ng	IEA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IMP	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific 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 comp lex	IDA	cellular_component
GO:0006006	glucose metabolic process	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0006366	transcription from RNA po lymerase 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 insu lin 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 bindi ng	IPI	molecular_function
GO:0043425	bHLH transcription factor binding	IPI	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045990	carbon catabolite regulat ion of transcription	TAS	biological_process
GO:0046982	protein heterodimerizatio n activity	IPI	molecular_function
GO:0051918	negative regulation of fi brinolysis	IC	biological_process
GO:0055088	lipid homeostasis	ISS	biological_process
GO:0000430	regulation of transcripti on from RNA polymerase II promoter by glucose	IC	biological_process
GO:0000432	positive regulation of tr anscription from RNA poly merase II promoter by glu cose	IEA	biological_process
GO:0000432	positive regulation of tr anscription from RNA poly merase II promoter by glu cose	ISS	biological_process
GO:0000432	positive regulation of tr anscription from RNA poly merase II promoter by glu cose	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 bindi ng	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IEA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IMP	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific 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 comp lex	IDA	cellular_component
GO:0006006	glucose metabolic process	IEA	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0006366	transcription from RNA po lymerase 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 insu lin 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 bindi ng	IPI	molecular_function
GO:0043425	bHLH transcription factor binding	IPI	molecular_function
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045990	carbon catabolite regulat ion of transcription	TAS	biological_process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IPI	molecular_function
GO:0046983	protein dimerization acti vity	IEA	molecular_function
GO:0051918	negative regulation of fi brinolysis	IC	biological_process
GO:0055088	lipid homeostasis	IEA	biological_process
GO:0055088	lipid homeostasis	ISS	biological_process
GO:0000430	regulation of transcripti on from RNA polymerase II promoter by glucose	IC	biological_process
GO:0000432	positive regulation of tr anscription from RNA poly merase II promoter by glu cose	ISS	biological_process
GO:0000432	positive regulation of tr anscription from RNA poly merase II promoter by glu cose	IMP	biological_process
GO:0001666	response to hypoxia	IMP	biological_process
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IMP	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular_function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific 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 comp lex	IDA	cellular_component
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	TAS	biological_process
GO:0006366	transcription from RNA po lymerase 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 insu lin 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 bindi ng	IPI	molecular_function
GO:0043425	bHLH transcription factor binding	IPI	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IMP	biological_process
GO:0045990	carbon catabolite regulat ion of transcription	TAS	biological_process
GO:0046982	protein heterodimerizatio n activity	IPI	molecular_function
GO:0051918	negative regulation of fi brinolysis	IC	biological_process
GO:0055088	lipid homeostasis	ISS	biological_process

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 16870626
Atherosclerosis	PMID: 15175273
Cardiovascular disease	PMID: 16699592
Coronary artery disease	PMID: 17673701
Diabetes	PMID: 16936202
Endometriosis	PMID: 26453052
Familial combined hyperlipidemia	KEGG: H00153
Hyperlipidemia	OMIM: 191523
Hypertriglyceridemia	KEGG: H01637
Lipolysis	PMID: 15985485
Endometriosis	INFBASE26453052
Non-obstructive azoospermia (NOA)	PMID: 25374392

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
26453052	Endometrio sis			86(37 women und ergoing diagnos tic laparoscopy for endometrio sis associated with pain and/o r infertility, 49 women withou t endometriosis undergoing lap aroscopy for tu bal ligation or hysterectomy f or a benign non -endometrial gy necologic condi tion (controls)	Female infertility	USF2a ER GPER and USF2b	Show abstract