Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

Seifert, Wenke; Kühnisch, Jirko; Maritzen, Tanja; Horn, Denise; Haucke, Volker; Hennies, Hans Christian

doi:10.1074/jbc.m111.267971

Cited by 127 publications

(134 citation statements)

References 37 publications

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“…In accordance to the functional interaction, different Co-IPs established a physical interaction of COH1 with RAB6 that preferentially occurred with the constitutively active RAB6_Q72L mutant. As RAB6 is involved in different Golgi-associated trafficking steps our findings support the previously described impact of COH1 for Golgi-associated membrane transport processes (2,6,13). Previous studies have indicated a potential neuroprotective effect of RAB6.…”

Section: Discussionsupporting

confidence: 80%

“…This suggests interplay of COH1 and the Golgi-associated small GTPase RAB6, which is in line with previous results for Golgi localization of both proteins (13,20). COH1 association with the Golgi complex critically depends on active RAB6, since the overexpression of constitutively inactive RAB6_T27N or siRNA-mediated depletion of RAB6 negatively interfered with COH1 recruitment to lipid membrane preparations and at the Golgi complex, respectively.…”

Section: Discussionsupporting

confidence: 78%

“…pEGFPC1 (Clontech) was used as negative control. Membrane preparation was performed as previously described (13).…”

Section: Methodsmentioning

confidence: 99%

“…Polyclonal rabbit anti-COH1 peptide antibody to GEEDFVGNDPASTMHQ (COH1) was described previously (13). The following commercial antibodies were used in this study: mouse anti-clathrin (BD Bioscience), mouse anti-cortactin (Millipore), mouse anti-early endosome antigen 1 (EEA1, BD Bioscience), rabbit anti-FLAG (Invitrogen), mouse anti-FLAG M2 (Invitrogen), mouse antigreen fluorescent protein (GFP, Roche), rabbit anti-GFP (Abcam), rabbit anti-Giantin (Covance), mouse anti-GM130 (BD Bioscience), mouse anti-lysosome-associated membrane protein 2 (LAMP2, DSHB), mouse anti-myc (BD Bioscience), mouse anti-transferrin receptor (TfR, Zymed Laboratories Inc.), mouse anti-acetylated ␣-tubulin (Sigma).…”

Section: Methodsmentioning

confidence: 99%

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Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Seifert

Kühnisch

Maritzen

et al. 2015

Journal of Biological Chemistry

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Background: COH1 is a peripheral membrane protein that is required for Golgi complex integrity and function. Results: Association of COH1 with the Golgi complex is mediated by its interaction with RAB6 and is required for neurite outgrowth. Conclusion: COH1 acts as downstream effector protein of RAB6. Significance: Defective neuronal outgrowth due to loss of COH1 contributes to the neurological impairments found in Cohen syndrome patients.

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Section: Discussionsupporting

confidence: 80%

Section: Discussionsupporting

confidence: 78%

“…pEGFPC1 (Clontech) was used as negative control. Membrane preparation was performed as previously described (13).…”

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

See 2 more Smart Citations

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Seifert

Kühnisch

Maritzen

et al. 2015

Journal of Biological Chemistry

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“…Recent studies of Vps13 orthologs in other systems also suggest roles beyond vacuolar trafficking for this family of proteins. In Tetrahymena, the sole Vps13 ortholog has been localized to phagosomes, whereas in human cells, the VPS13B (COH1) protein, which is mutated in Cohen syndrome, localizes to the cis-Golgi (Samaranayake et al, 2011;Seifert et al, 2011).…”

Section: Intralumenal Vesicle Formation In Vps13d Is Not Dependent Onmentioning

confidence: 99%

VPS13Regulates Membrane Morphogenesis During Sporulation inSaccharomyces cerevisiae

Park

Neiman

2012

Journal of Cell Science

104

150

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SummaryThe hereditary disorders chorea acanthocytosis and Cohen syndrome are caused by mutations in different members of a family of genes that are orthologs of yeast VPS13. In vegetatively growing yeast, VPS13 is involved in the delivery of proteins to the vacuole. During sporulation, VPS13 is important for formation of the prospore membrane that encapsulates the daughter nuclei to give rise to spores. We report that VPS13 is required for multiple aspects of prospore membrane morphogenesis. VPS13 (1) promotes expansion of the prospore membrane through regulation of phosphatidylinositol phosphates, which in turn activate the phospholipase D, Spo14; (2) is required for a late step in cytokinesis that gives rise to spores; and (3) regulates a membrane-bending activity that generates intralumenal vesicles. These results demonstrate that Vps13 plays a broader role in membrane biology than previously known, which could have important implications for the functions of VPS13 orthologs in humans.

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Cohen Syndrome

Chandler¹

2020

Cassidy and Allanson's Management of Genetic Syndromes

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Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

Cited by 127 publications

References 37 publications

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

VPS13Regulates Membrane Morphogenesis During Sporulation inSaccharomyces cerevisiae

Cohen Syndrome

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