Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Upstream stimulatory factor 1

This gene encodes a transcription factor which is involved in regulation of adipose tissue metabolism. Variations have been reported to be associated with familial combined hyperlipidemia.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined familial hyperlipidemia with adipose tissue dysfunction
C5AR2
CREB3L3
LEPR
LIPE
PNPLA2
PPARG
USF1
Combined familial hyperlipidemia with VLDL overproduction
APOE
GCKR
OSBPL10
USF1
Combined familial hyperlipidemia with dysfunctional VLDL metabolism
ANGPTL8
APOA1
APOA4
APOA5
APOC3
CETP
GALNT2
LCAT
LIPC
LIPG
LPL
RXRG
USF1

References:

1.

Gregor PD et. al. (1990) The adenovirus major late transcription factor USF is a member of the helix-loop-helix group of regulatory proteins and binds to DNA as a dimer.

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2.

Henrion AA et. al. (1995) Structure, sequence, and chromosomal location of the gene for USF2 transcription factors in mouse.

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3.

Lefrançois-Martinez AM et. al. (1995) Upstream stimulatory factor proteins are major components of the glucose response complex of the L-type pyruvate kinase gene promoter.

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4.

Sirito M et. al. (1994) Ubiquitous expression of the 43- and 44-kDa forms of transcription factor USF in mammalian cells.

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5.

Shieh BH et. al. (1993) Localization of the gene-encoding upstream stimulatory factor (USF) to human chromosome 1q22-q23.

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6.

Steingrímsson E et. al. (1995) Murine chromosomal location of five bHLH-Zip transcription factor genes.

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7.

Viollet B et. al. (1996) Immunochemical characterization and transacting properties of upstream stimulatory factor isoforms.

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8.

Roy AL et. al. (1997) Cloning of an inr- and E-box-binding protein, TFII-I, that interacts physically and functionally with USF1.

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9.

None (1998) Identification of upstream stimulatory factor as transcriptional activator of the liver promoter of the glucokinase gene.

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10.

Vallet VS et. al. (1998) Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose.

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11.

Casado M et. al. (1999) Essential role in vivo of upstream stimulatory factors for a normal dietary response of the fatty acid synthase gene in the liver.

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12.

Zhong G et. al. (2001) Identification of a chlamydial protease-like activity factor responsible for the degradation of host transcription factors.

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13.

Yago M et. al. (2002) Variant forms of upstream stimulatory factors (USFs) control the promoter activity of hTERT, the human gene encoding the catalytic subunit of telomerase.

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14.

Pajukanta P et. al. (2004) Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

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15.

None (2004) USF1 on trial.

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16.

Putt W et al. (2004) Variation in USF1 shows haplotype effects, gene : gene and gene : environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II.

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17.

Coon H et. al. (2005) Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.

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18.

Naukkarinen J et. al. (2005) USF1 and dyslipidemias: converging evidence for a functional intronic variant.

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19.

Wu S et. al. (2010) Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice.

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20.

Huertas-Vazquez A et. al. (2005) Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.

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21.

Lee JC et. al. (2007) USF1 contributes to high serum lipid levels in Dutch FCHL families and U.S. whites with coronary artery disease.

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22.

van der Vleuten GM et. al. (2007) The involvement of upstream stimulatory factor 1 in Dutch patients with familial combined hyperlipidemia.

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Update: Sept. 26, 2018