Universität zu Köln

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

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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
Creators:	Creators Email ORCID ORCID Put Code Seifert, Wenke UNSPECIFIED UNSPECIFIED UNSPECIFIED Kuehnisch, Jirko UNSPECIFIED UNSPECIFIED UNSPECIFIED Maritzen, Tanja UNSPECIFIED orcid.org/0000-0003-4993-0340 UNSPECIFIED Horn, Denise UNSPECIFIED UNSPECIFIED UNSPECIFIED Haucke, Volker UNSPECIFIED orcid.org/0000-0003-3119-6993 UNSPECIFIED Hennies, Hans Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED
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
Uncontrolled Keywords:	Keywords Language MEMBRANE-PROTEINS; ORGANELLE STRUCTURE; MENTAL-RETARDATION; RIBBON FORMATION; GRIP DOMAIN; GENE; LOCALIZATION; EXPRESSION; MUTATIONS; TRANSPORT Multiple languages Biochemistry & Molecular Biology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48699