Cystic Fibrosis Transmembrane conductance Regulator ( CFTR ) is a protein involved in the transport of chlorine ions across the cell membrane, as well as the name of the gene that encodes this protein. The CFTR gene is located on the long arm of the 7th chromosome . Mutations in the CFTR gene lead to cystic fibrosis , and can also cause male infertility . The ΔF508 mutation is most common (more than 50% of all detected mutations in the gene), in which a deletion of the phenylalanine -508 residue from the polypeptide chain occurs, which leads to impaired protein folding in the plasma membrane .
| Regulator of transmembrane conductivity in cystic fibrosis | |
|---|---|
 | |
| Designations | |
| Characters | CFTR CF, ABCC7 |
| Entrez gene | 1080 |
| Hgnc | 1884 |
| Omim | 602421 |
| Refseq | NM_000492 |
| Other data | |
| Locus | 7th hr , 7q31.2 |
The MBTR protein is localized mainly in the epithelial cells of the respiratory tract, salivary sweat glands, pancreas, and intestines. It is intracellularly located on the surface of the apical membrane, as well as in the membranes of the endoplasmic reticulum and as part of pinocytotic vesicles. MVTR is a membrane channel for the active transport of chlorine ions. [one]
Protein interactions
CFTR interactions with proteins such as Sodium-hydrogen exchange regulatory cofactor 2 , [2] GOPC , [3] [4] SNAP23 , [5] Sodium-hydrogen antiporter 3 regulator 1 , [6] [7] [8] [ 4] [9] [10] [11] STX1A , [12] [5] SLC4A8 , [11] PRKCE , [13] DNAJC5 [14] and PDZK1 . [4] [15]
Notes
- ↑ Indicators of the function of the cardio-respiratory system in adult patients with cystic fibrosis
- ↑ Sun, F; Hug M J., Lewarchik C M., Yun C H., Bradbury N A., Frizzell R A. E3KARP mediates the association of ezrin and protein kinase A with the cystic fibrosis transmembrane conductance regulator in airway cells // Journal of Biological Chemistry : journal. - UNITED STATES, 2000 . - September ( vol. 275 , no. 38 ). - P. 29539-29546 . - ISSN 0021-9258 . - DOI : 10.1074 / jbc.M004961200 . - PMID 10893422 .
- ↑ Cheng, Jie; Moyer Bryan D., Milewski Michal, Loffing Johannes, Ikeda Masahiro, Mickle John E., Cutting Garry R., Li Min, Stanton Bruce A., Guggino William B. A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression (Eng.) // Journal of Biological Chemistry : journal. - United States, 2002 . - February ( vol. 277 , no. 5 ). - P. 3520-3529 . - ISSN 0021-9258 . - DOI : 10.1074 / jbc.M110177200 . - PMID 11707463 .
- ↑ 1 2 3 Gentzsch, Martina; Cui Liying, Mengos April, Chang Xiu-Bao, Chen Jey-Hsin, Riordan John R. The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins / / Journal of Biological Chemistry : journal. - United States, 2003 . - February ( vol. 278 , no. 8 ). - P. 6440-6449 . - ISSN 0021-9258 . - DOI : 10.1074 / jbc.M211050200 . - PMID 12471024 .
- ↑ 1 2 Cormet-Boyaka, Estelle; Di Anke, Chang Steven Y., Naren Anjaparavanda P., Tousson Albert, Nelson Deborah J., Kirk Kevin L. CFTR chloride channels are regulated by a SNAP-23 / syntaxin 1A complex // Proceedings of the National Academy of Sciences of the United States of America : journal. - United States, 2002 . - September ( vol. 99 , no. 19 ). - P. 12477-12482 . - ISSN 0027-8424 . - DOI : 10.1073 / pnas . 192203899 . - PMID 12209004 .
- ↑ Hegedüs, Tamás; Sessler Tamás, Scott Robert, Thelin William, Bakos Eva, Váradi András, Szabó Katalin, Homolya László, Milgram Sharon L., Sarkadi Balázs. C-terminal phosphorylation of MRP2 modulates its interaction with PDZ proteins (Eng.) // Biochemical and Biophysical Research Communications : journal. - United States, 2003 . - March ( vol. 302 , no. 3 ). - P. 454-461 . - ISSN 0006-291X . - PMID 12615054 .
- ↑ Wang, S; Raab R W., Schatz P J., Guggino W B., Li M. Peptide binding consensus of the NHE-RF-PDZ1 domain matches the C-terminal sequence of cystic fibrosis transmembrane conductance regulator (CFTR ) // FEBS Letters : journal. - NETHERLANDS, 1998 . - May ( vol. 427 , no. 1 ). - P. 103-108 . - ISSN 0014-5793 . - PMID 9613608 .
- ↑ Moyer, BD; Duhaime M., Shaw C., Denton J., Reynolds D., Karlson K H., Pfeiffer J., Wang S., Mickle J E., Milewski M., Cutting G R., Guggino W B., Li M ., Stanton B A. The PDZ-interacting domain of cystic fibrosis transmembrane conductance regulator is required for functional expression in the apical plasma membrane (English) // Journal of Biological Chemistry : journal. - UNITED STATES, 2000 . - September ( vol. 275 , no. 35 ). - P. 27069-27074 . - ISSN 0021-9258 . - DOI : 10.1074 / jbc.M004951200 . - PMID 10852925 .
- ↑ Hall, RA; Ostedgaard L S., Premont R T., Blitzer J T., Rahman N., Welsh M J., Lefkowitz R J. A C-terminal motif found in the beta2-adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na + / H + exchanger regulatory factor family of PDZ proteins (English) // Proceedings of the National Academy of Sciences of the United States of America : journal. - UNITED STATES, 1998 . - July ( vol. 95 , no. 15 ). - P. 8496-8501 . - ISSN 0027-8424 . - PMID 9671706 .
- ↑ Short, DB; Trotter K W., Reczek D., Kreda S M., Bretscher A., Boucher R C., Stutts M J., Milgram S L. An apical PDZ protein anchors the cystic fibrosis transmembrane conductance regulator to the cytoskeleton // Journal of Biological Chemistry : journal. - UNITED STATES, 1998 . - July ( vol. 273 , no. 31 ). - P. 19797-19801 . - ISSN 0021-9258 . - PMID 9677412 .
- ↑ 1 2 Park, Meeyoung; Ko Shigeru B H., Choi Joo Young, Muallem Gaia, Thomas Philip J., Pushkin Alexander, Lee Myeong-Sok, Kim Joo Young, Lee Min Goo, Muallem Shmuel, Kurtz Ira. The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3-salvage transporter human Na + -HCO3- cotransport isoform 3 (Eng.) // Journal of Biological Chemistry : journal. - United States, 2002 . - December ( vol. 277 , no. 52 ). - P. 50503-50509 . - ISSN 0021-9258 . - DOI : 10.1074 / jbc.M201862200 . - PMID 12403779 .
- ↑ Naren, AP; Nelson D J., Xie W., Jovov B., Pevsner J., Bennett M K., Benos D J., Quick M W., Kirk K L. Regulation of CFTR chloride channels by syntaxin and Munc18 isoforms // Nature : journal. - ENGLAND, 1997 . - November ( vol. 390 , no. 6657 ). - P. 302-305 . - ISSN 0028-0836 . - DOI : 10.1038 / 36882 . - PMID 9384384 .
- ↑ Liedtke, Carole M; Yun CH Chris, Kyle Nicole, Wang Dandan. Protein kinase C epsilon-dependent regulation of cystic fibrosis transmembrane regulator involves binding to a receptor for activated C kinase (RACK1) and RACK1 binding to Na + / H + exchange regulatory factor (English) // Journal of Biological Chemistry : journal. - United States, 2002 . - June ( vol. 277 , no. 25 ). - P. 22925-22933 . - ISSN 0021-9258 . - DOI : 10.1074 / jbc.M201917200 . - PMID 11956211 .
- ↑ Zhang, Hui; Peters Kathryn W., Sun Fei, Marino Christopher R., Lang Jochen, Burgoyne Robert D., Frizzell Raymond A. Cysteine string protein interacts with and modulates the maturation of the cystic fibrosis transmembrane conductance regulator (English) // Journal of Biological Chemistry : journal. - United States, 2002 . - August ( vol. 277 , no. 32 ). - P. 28948-28958 . - ISSN 0021-9258 . - DOI : 10.1074 / jbc.M111706200 . - PMID 12039948 .
- ↑ Wang, S; Yue H., Derin R B., Guggino W B., Li M. Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity (Eng.) // Cell : journal. - UNITED STATES: Cell Press , 2000 . - September ( vol. 103 , no. 1 ). - P. 169-179 . - ISSN 0092-8674 . - PMID 11051556 .