MBTPS1,2 cleaves CREB3L3 to CREB3L3(1-?) and CREB3L3(?-461)

Stable Identifier
R-HSA-6784620
Type
Reaction [transition]
Species
Homo sapiens
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Cyclic AMP-responsive element-binding protein 3-like protein 3 (CREB3L3) is a transcription factor that is highly and selectively expressed in liver and small intestine. This protein is produced as an ER-localized type II transmembrane glycoprotein that is converted into the mature nuclear form (the N-terminal portion) by sequence specific proteases, membrane-bound transcription factor site-1 proteases 1 and 2 (MBTPS1 and 2) (Marschner et al. 2011, Oeffner et al. 2009). CREB3L3 is a downstream target gene of hepatocyte nuclear factor 4a (HNF-4a), which plays a critical role in hepatocyte differentiation and liver function. Ablation of HNF-4a abolished CREB-H mRNA expression in the liver, but not in the small intestine, suggesting an essential role of HNF-4a in hepatic CREB-H expression.

Literature References
PubMed ID Title Journal Year
19361614 IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

Oeffner, F, Fischer, G, Happle, R, Konig, A, Betz, RC, Bornholdt, D, Neidel, U, Boente, Mdel C, Redler, S, Romero-Gomez, J, Salhi, A, Vera-CasaƱo, A, Weirich, C, Grzeschik, KH

Am. J. Hum. Genet. 2009
21719679 A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism

Marschner, K, Kollmann, K, Schweizer, M, Braulke, T, Pohl, S

Science 2011
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Catalyst Activity
Title
metalloendopeptidase activity of MBTPS1,2 [endoplasmic reticulum membrane]
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