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

Related Diseases:

Epigenetic dyslipidemia
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

References:

1.

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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2.

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

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3.

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

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4.

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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5.

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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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. (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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8.

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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9.

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

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10.

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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11.

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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12.

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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13.

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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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

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

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22.

NCBI article

NCBI 6720 external link
23.

OMIM.ORG article

Omim 184756 external link
24.

Wikipedia article

Wikipedia EN (Sterol_regulatory_element-binding_protein_1) external link
Update: Aug. 14, 2020
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