Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Sterol regulatory element-binding protein 1

The SREBF1 gene encodes a protein that by binding steroles is involved in transcription control. Epigenetic modification of this gene was associated with dyslipidemia.

Genetests:

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

Related Diseases:

Epigenetic dyslipidemia
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

References:

1.

Lloyd DJ et. al. (2002) A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.

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2.

Hua X et. al. (1995) Structure of the human gene encoding sterol regulatory element binding protein-1 (SREBF1) and localization of SREBF1 and SREBF2 to chromosomes 17p11.2 and 22q13.

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3.

Wang X et. al. (1994) SREBP-1, a membrane-bound transcription factor released by sterol-regulated proteolysis.

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4.

Yokoyama C et. al. (1993) SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene.

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5.

Shimomura I et. al. (1997) Differential expression of exons 1a and 1c in mRNAs for sterol regulatory element binding protein-1 in human and mouse organs and cultured cells.

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6.

Shimano H et. al. (1997) Elevated levels of SREBP-2 and cholesterol synthesis in livers of mice homozygous for a targeted disruption of the SREBP-1 gene.

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7.

Shimomura I et al. (1998) Insulin resistance and diabetes mellitus in transgenic mice expressing nuclear SREBP-1c in adipose tissue: model for congenital generalized lipodystrophy.

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8.

DeBose-Boyd RA et. al. (1999) Transport-dependent proteolysis of SREBP: relocation of site-1 protease from Golgi to ER obviates the need for SREBP transport to Golgi.

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9.

Shimomura I et al. (2000) Decreased IRS-2 and increased SREBP-1c lead to mixed insulin resistance and sensitivity in livers of lipodystrophic and ob/ob mice.

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10.

None (2001) CREating a SCAP-less liver keeps SREBPs pinned in the ER membrane and prevents increased lipid synthesis in response to low cholesterol and high insulin.

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11.

Tobe K et al. (2001) Increased expression of the sterol regulatory element-binding protein-1 gene in insulin receptor substrate-2(-/-) mouse liver.

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12.

Nagata R et. al. (2004) Single nucleotide polymorphism (-468 Gly to A) at the promoter region of SREBP-1c associates with genetic defect of fructose-induced hepatic lipogenesis [corrected].

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13.

Lin J et. al. (2005) Hyperlipidemic effects of dietary saturated fats mediated through PGC-1beta coactivation of SREBP.

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14.

Bengoechea-Alonso MT et. al. (2005) Hyperphosphorylation regulates the activity of SREBP1 during mitosis.

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15.

Yang F et. al. (2006) An ARC/Mediator subunit required for SREBP control of cholesterol and lipid homeostasis.

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16.

Taghibiglou C et. al. (2009) Role of NMDA receptor-dependent activation of SREBP1 in excitotoxic and ischemic neuronal injuries.

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17.

Najafi-Shoushtari SH et. al. (2010) MicroRNA-33 and the SREBP host genes cooperate to control cholesterol homeostasis.

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18.

Cui G et. al. (2011) Liver X receptor (LXR) mediates negative regulation of mouse and human Th17 differentiation.

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19.

Han J et. al. (2015) The CREB coactivator CRTC2 controls hepatic lipid metabolism by regulating SREBP1.

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20.

Braun KV et. al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.

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21.

Pfeiffer L et. al. (2015) DNA methylation of lipid-related genes affects blood lipid levels.

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Update: Sept. 26, 2018