Seifert, Wenke, Kuehnisch, Jirko, Maritzen, Tanja ORCID: 0000-0003-4993-0340, Horn, Denise, Haucke, Volker ORCID: 0000-0003-3119-6993 and Hennies, Hans Christian (2011). Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity. J. Biol. Chem., 286 (43). S. 37665 - 37676. BETHESDA: AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC. ISSN 1083-351X
Full text not available from this repository.Abstract
Loss-of-function mutations in the gene COH1, also known as VPS13B, lead to autosomal recessive Cohen syndrome. However, the cellular distribution and function of the encoded protein COH1 ( 3997 amino acids), which lacks functional homologies to other mammalian proteins, have remained enigmatic. We show here that COH1 is a peripheral Golgi membrane protein that strongly co-localizes with the cis-Golgi matrix protein GM130. Consistent with its subcellular localization, COH1 depletion using RNAi causes fragmentation of the Golgi ribbon into ministacks. Disruption of Golgi organization observed in fibroblasts from Cohen syndrome patients suggests that Golgi dysfunction contributes to Cohen syndrome pathology. In conclusion, our findings establish COH1 as a Golgi-associated matrix protein required for Golgi integrity.
Item Type: | Journal Article | ||||||||||||||||||||||||||||
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URN: | urn:nbn:de:hbz:38-486999 | ||||||||||||||||||||||||||||
DOI: | 10.1074/jbc.M111.267971 | ||||||||||||||||||||||||||||
Journal or Publication Title: | J. Biol. Chem. | ||||||||||||||||||||||||||||
Volume: | 286 | ||||||||||||||||||||||||||||
Number: | 43 | ||||||||||||||||||||||||||||
Page Range: | S. 37665 - 37676 | ||||||||||||||||||||||||||||
Date: | 2011 | ||||||||||||||||||||||||||||
Publisher: | AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC | ||||||||||||||||||||||||||||
Place of Publication: | BETHESDA | ||||||||||||||||||||||||||||
ISSN: | 1083-351X | ||||||||||||||||||||||||||||
Language: | English | ||||||||||||||||||||||||||||
Faculty: | Unspecified | ||||||||||||||||||||||||||||
Divisions: | Unspecified | ||||||||||||||||||||||||||||
Subjects: | no entry | ||||||||||||||||||||||||||||
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URI: | http://kups.ub.uni-koeln.de/id/eprint/48699 |
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