Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer
Mutations in the renal tumour suppressor protein, folliculin, lead to proliferative skin lesions, lung complications and renal cell carcinoma. Folliculin has been reported to interact with AMP-activated kinase, a key component of the mammalian target of rapamycin pathway. Most cancer-causing mutatio...
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| Asıl Yazarlar: | , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | İngilizce |
| Baskı/Yayın Bilgisi: |
2012
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| Online Erişim: | https://doi.org/10.1098/rsob.120071 |
| Etiketler: |
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| _version_ | 1838618688980254720 |
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| access_facet | Acesso Aberto |
| author | Ravi K. Nookala Lars Langemeyer A. Pacitto Bernardo Ochoa‐Montaño Jane C. Donaldson Beata K. Blaszczyk Dimitri Y. Chirgadze Francis A. Barr J. Fernando Bazán Tom L. Blundell |
| author_facet | Ravi K. Nookala Lars Langemeyer A. Pacitto Bernardo Ochoa‐Montaño Jane C. Donaldson Beata K. Blaszczyk Dimitri Y. Chirgadze Francis A. Barr J. Fernando Bazán Tom L. Blundell |
| cited_by_count_is | 103 |
| collection | OpenAlex |
| description | Mutations in the renal tumour suppressor protein, folliculin, lead to proliferative skin lesions, lung complications and renal cell carcinoma. Folliculin has been reported to interact with AMP-activated kinase, a key component of the mammalian target of rapamycin pathway. Most cancer-causing mutations lead to a carboxy-terminal truncation of folliculin, pointing to a functional importance of this domain in tumour suppression. We present here the crystal structure of folliculin carboxy-terminal domain and demonstrate that it is distantly related to differentially expressed in normal cells and neoplasia (DENN) domain proteins, a family of Rab guanine nucleotide exchange factors (GEFs). Using biochemical analysis, we show that folliculin has GEF activity, indicating that folliculin is probably a distantly related member of this class of Rab GEFs. |
| format | Artigo |
| frbr_group_id_str | doi-10.1098/rsob.120071 |
| id | openalex-W2086327073 |
| institution | University of Cambridge |
| issn_str | 2046-2441 |
| issue_str | 8 |
| journal_title_str | Open Biology |
| language | eng |
| publishDate | 2012 |
| publisher_str | Royal Society |
| spellingShingle | Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer Ravi K. Nookala Lars Langemeyer A. Pacitto Bernardo Ochoa‐Montaño Jane C. Donaldson Beata K. Blaszczyk Dimitri Y. Chirgadze Francis A. Barr J. Fernando Bazán Tom L. Blundell |
| title | Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer |
| title_full | Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer |
| title_fullStr | Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer |
| title_full_unstemmed | Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer |
| title_short | Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer |
| topic_facet | Folliculin Biology Mutation Guanine nucleotide exchange factor Cell biology Suppressor Cancer Cancer research Genetics GTPase Gene |
| url | https://doi.org/10.1098/rsob.120071 |
| volume_str | 2 |