Varaico: Literature-Extracted Genetic Variants

Gene:SCAP
Variant:p.Y298C
Back to variants list

SCAP

NM_012235.4:p.Y298C

Associated Papers

A structure of human Scap bound to Insig-2 suggests how their interaction is regulated by sterols.

Yan R et al.

Science (new York, N.y.), 2021

The ER cholesterol sensor SCAP promotes CARTS biogenesis at ER-Golgi membrane contact sites.

Wakana Y et al.

The Journal of Cell Biology, 2021

Retrospective on Cholesterol Homeostasis: The Central Role of Scap.

Brown MS et al.

Annual Review of Biochemistry, 2018

Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated Cholesterol Transfer and Ebola Infection.

Gong X et al.

Cell, 2016

27238017 (PubMed )
Supplement: mmc2.pdf

The sterol-sensing domain (SSD) directly mediates signal-regulated endoplasmic reticulum-associated degradation (ERAD) of 3-hydroxy-3-methylglutaryl (HMG)-CoA reductase isozyme Hmg2.

Theesfeld CL et al.

The Journal of Biological Chemistry, 2011

Identification of twenty-three mutations in fission yeast Scap that constitutively activate SREBP.

Hughes AL et al.

Journal of Lipid Research, 2008

Mutations within the membrane domain of HMG-CoA reductase confer resistance to sterol-accelerated degradation.

Lee PC et al.

Journal of Lipid Research, 2007

Severe facial clefting in Insig-deficient mouse embryos caused by sterol accumulation and reversed by lovastatin.

Engelking LJ et al.

The Journal of Clinical Investigation, 2006

The sterol-sensing domain of the Niemann-Pick C1 (NPC1) protein regulates trafficking of low density lipoprotein cholesterol.

Millard EE et al.

The Journal of Biological Chemistry, 2005

Ubiquitin is conjugated by membrane ubiquitin ligase to three sites, including the N terminus, in transmembrane region of mammalian 3-hydroxy-3-methylglutaryl coenzyme A reductase: implications for sterol-regulated enzyme degradation.

Doolman R et al.

The Journal of Biological Chemistry, 2004

Membrane topology of human insig-1, a protein regulator of lipid synthesis.

Feramisco JD et al.

The Journal of Biological Chemistry, 2004

Insig-dependent ubiquitination and degradation of mammalian 3-hydroxy-3-methylglutaryl-CoA reductase stimulated by sterols and geranylgeraniol.

Sever N et al.

The Journal of Biological Chemistry, 2003

Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.

Sever N et al.

Molecular Cell, 2003

Three mutations in sterol-sensing domain of SCAP block interaction with insig and render SREBP cleavage insensitive to sterols.

Yabe D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2002

Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER.

Yang T et al.

Cell, 2002

The sterol-sensing domain: multiple families, a unique role?

Kuwabara PE et al.

Trends in Genetics : Tig, 2002

Distinct consequences of sterol sensor mutations in Drosophila and mouse patched homologs.

Johnson RL et al.

Developmental Biology, 2002

Overexpression of membrane domain of SCAP prevents sterols from inhibiting SCAP.SREBP exit from endoplasmic reticulum.

Yang T et al.

The Journal of Biological Chemistry, 2000

Genomic structure of the gene encoding human 3-hydroxy-3-methyl-glutaryl coenzyme A reductase: comparison of exon/intron organization of sterol-sensing domains among four related genes.

Nakajima T et al.

Journal of Human Genetics, 2000

Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.

Watari H et al.

The Journal of Biological Chemistry, 1999

Sterols regulate processing of carbohydrate chains of wild-type SREBP cleavage-activating protein (SCAP), but not sterol-resistant mutants Y298C or D443N.

Nohturfft A et al.

Proceedings of the National Academy of Sciences of the United States of America, 1998

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."