CD114
O CD114 (cluster de diferenciación 114) ou receptor do factor estimulante das colonias de granulocitos (G-CSF-R) é unha proteína da superficie celular de certas células precursoras hematopoéticas e outras codificada nos humanos no xene CSF3R do cromosoma 1.[1] A molécula funciona como un receptor para o factor estimulante das colonias de granulocitos (G-CSF).[2] Os receptores deste factor pertencen á familia dos receptores de citocinas coñecidos como familia de receptores da hematopoetina. O G-CSF-R está presente nas células precursoras da medula ósea, e, en resposta á estimulación polo G-CSF, fai que se inicie a proliferación celular e a diferenciación celular en granulocitos neutrófilos maduros e macrófagos. Está presente tamén en neutrófilos maduros, células da placenta, células endoteliais, e varías liñas celulares de carcinomas.[3]
O G-CSF-R é un receptor transmembrana que consta dunha porción de unión ao ligando extracelular, un dominio transmembrana, e a porción citoplasmática que é responsable da transdución de sinais. A unión do ligando do G-CSF-R está asociada coa dimerización do receptor e transdución de sinais por medio de proteínas como a Jak, Lyn, STAT, e Erk1/2.
Isoformas editar
Coñécense 4 isoformas.[4] A isoforma de clase IV funciona defectuosamente para a internalización de ligandos e a sinalización da diferenciación.
Importancia clínica editar
As mutacións neste xene son unha causa da síndrome de Kostmann, tamén chamada neutropenia conxénita severa.[5]
As mutacións na parte intracelular deste receptor están tamén asociadas con certos tipos de leucemia.[6]
En medicina clínica, suxeriuse que se debería evitar o uso do G-CSF, polo menos en nenos e adolescentes e quizais tamén en adultos cando está sobreexpresada a isoforma IV do G-CSF-R.[7]
Interaccións editar
O receptor do factor estimulante das colonias de granulocitos interacciona con Grb2,[8] HCK[9] e SHC1.[8]
Notas editar
- ↑ Tweardy DJ, Anderson K, Cannizzaro LA, Steinman RA, Croce CM, Huebner K (1992). "Molecular cloning of cDNAs for the human granulocyte colony-stimulating factor receptor from HL-60 and mapping of the gene to chromosome region 1p32-34". Blood 79 (5): 1148–54. PMID 1371413.
- ↑ "Entrez Gene: CSF3R colony stimulating factor 3 receptor (granulocyte)".
- ↑ OMIM 138971 COLONY-STIMULATING FACTOR 3 RECEPTOR, GRANULOCYTE; CSF3R
- ↑ UniProt CSF3R human
- ↑ Zeidler C, Welte K (2002). "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol. 39 (2): 82–8. PMID 11957189. doi:10.1053/shem.2002.31913.
- ↑ Beekman R, Touw IP (2010). "G-CSF and its receptor in myeloid malignancy". Blood 115 (25): 5131–6. PMID 20237318. doi:10.1182/blood-2010-01-234120.
- ↑ Ehlers S, Herbst C, Zimmermann M; et al. (2010). "Granulocyte colony-stimulating factor (G-CSF) treatment of childhood acute myeloid leukemias that overexpress the differentiation-defective G-CSF receptor isoform IV is associated with a higher incidence of relapse". J. Clin. Oncol. 28 (15): 2591–7. PMID 20406937. doi:10.1200/JCO.2009.25.9010.
- ↑ 8,0 8,1 Ward AC, Monkhouse JL, Hamilton JA, Csar XF (1998). "Direct binding of Shc, Grb2, SHP-2 and p40 to the murine granulocyte colony-stimulating factor receptor". Biochim. Biophys. Acta 1448 (1): 70–6. PMID 9824671. doi:10.1016/S0167-4889(98)00120-7.
- ↑ Ward AC, Monkhouse JL, Csar XF, Touw IP, Bello PA (1998). "The Src-like tyrosine kinase Hck is activated by granulocyte colony-stimulating factor (G-CSF) and docks to the activated G-CSF receptor". Biochem. Biophys. Res. Commun. 251 (1): 117–23. PMID 9790917. doi:10.1006/bbrc.1998.9441.
Véxase tamén editar
Bibliografía editar
- Tsuji K, Ebihara Y (2002). "Expression of G-CSF receptor on myeloid progenitors.". Leuk. Lymphoma 42 (6): 1351–7. PMID 11911419. doi:10.3109/10428190109097763.
- Kimura A, Sultana TA (2005). "Granulocyte colony-stimulating factor receptors on CD34++ cells in patients with myelodysplastic syndrome (MDS) and MDS-acute myeloid leukemia.". Leuk. Lymphoma 45 (10): 1995–2000. PMID 15370243. doi:10.1080/10428190410001714034.
- Tweardy DJ, Anderson K, Cannizzaro LA; et al. (1992). "Molecular cloning of cDNAs for the human granulocyte colony-stimulating factor receptor from HL-60 and mapping of the gene to chromosome region 1p32-34.". Blood 79 (5): 1148–54. PMID 1371413.
- Seto Y, Fukunaga R, Nagata S (1992). "Chromosomal gene organization of the human granulocyte colony-stimulating factor receptor.". J. Immunol. 148 (1): 259–66. PMID 1530796.
- Fukunaga R, Seto Y, Mizushima S, Nagata S (1991). "Three different mRNAs encoding human granulocyte colony-stimulating factor receptor.". Proc. Natl. Acad. Sci. U.S.A. 87 (22): 8702–6. PMC 55027. PMID 1701053. doi:10.1073/pnas.87.22.8702.
- Fukunaga R, Ishizaka-Ikeda E, Pan CX; et al. (1991). "Functional domains of the granulocyte colony-stimulating factor receptor.". EMBO J. 10 (10): 2855–65. PMC 452996. PMID 1717255.
- Inazawa J, Fukunaga R, Seto Y; et al. (1991). "Assignment of the human granulocyte colony-stimulating factor receptor gene (CSF3R) to chromosome 1 at region p35-p34.3.". Genomics 10 (4): 1075–8. PMID 1833306. doi:10.1016/0888-7543(91)90202-P.
- Larsen A, Davis T, Curtis BM; et al. (1991). "Expression cloning of a human granulocyte colony-stimulating factor receptor: a structural mosaic of hematopoietin receptor, immunoglobulin, and fibronectin domains.". J. Exp. Med. 172 (6): 1559–70. PMC 2188748. PMID 2147944. doi:10.1084/jem.172.6.1559.
- Uzumaki H, Okabe T, Sasaki N; et al. (1990). "Identification and characterization of receptors for granulocyte colony-stimulating factor on human placenta and trophoblastic cells.". Proc. Natl. Acad. Sci. U.S.A. 86 (23): 9323–6. PMC 298487. PMID 2480598. doi:10.1073/pnas.86.23.9323.
- Nicholson SE, Oates AC, Harpur AG; et al. (1994). "Tyrosine kinase JAK1 is associated with the granulocyte-colony-stimulating factor receptor and both become tyrosine-phosphorylated after receptor activation.". Proc. Natl. Acad. Sci. U.S.A. 91 (8): 2985–8. PMC 43499. PMID 7512720. doi:10.1073/pnas.91.8.2985.
- Dong F, Hoefsloot LH, Schelen AM; et al. (1994). "Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia.". Proc. Natl. Acad. Sci. U.S.A. 91 (10): 4480–4. PMC 43809. PMID 7514305. doi:10.1073/pnas.91.10.4480.
- Dong F, Brynes RK, Tidow N; et al. (1995). "Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia.". N. Engl. J. Med. 333 (8): 487–93. PMID 7542747. doi:10.1056/NEJM199508243330804.
- Shimoda K, Okamura S, Harada N; et al. (1993). "Identification of a functional receptor for granulocyte colony-stimulating factor on platelets.". J. Clin. Invest. 91 (4): 1310–3. PMC 288100. PMID 7682568. doi:10.1172/JCI116330.
- Zhao Y, Wagner F, Frank SJ, Kraft AS (1995). "The amino-terminal portion of the JAK2 protein kinase is necessary for binding and phosphorylation of the granulocyte-macrophage colony-stimulating factor receptor beta c chain.". J. Biol. Chem. 270 (23): 13814–8. PMID 7775438. doi:10.1074/jbc.270.23.13814.
- Corey SJ, Burkhardt AL, Bolen JB; et al. (1994). "Granulocyte colony-stimulating factor receptor signaling involves the formation of a three-component complex with Lyn and Syk protein-tyrosine kinases.". Proc. Natl. Acad. Sci. U.S.A. 91 (11): 4683–7. PMC 43852. PMID 8197119. doi:10.1073/pnas.91.11.4683.
- Haniu M, Horan T, Arakawa T; et al. (1996). "Extracellular domain of granulocyte-colony stimulating factor receptor. Interaction with its ligand and identification of a domain in close proximity of ligand-binding region.". Arch. Biochem. Biophys. 324 (2): 344–56. PMID 8554326. doi:10.1006/abbi.1995.0047.
- Horan T, Wen J, Narhi L; et al. (1996). "Dimerization of the extracellular domain of granuloycte-colony stimulating factor receptor by ligand binding: a monovalent ligand induces 2:2 complexes.". Biochemistry 35 (15): 4886–96. PMID 8664280. doi:10.1021/bi9525841.
- McCracken S, Layton JE, Shorter SC; et al. (1996). "Expression of granulocyte-colony stimulating factor and its receptor is regulated during the development of the human placenta.". J. Endocrinol. 149 (2): 249–58. PMID 8708536. doi:10.1677/joe.0.1490249.
- Haniu M, Horan T, Arakawa T; et al. (1996). "Disulfide structure and N-glycosylation sites of an extracellular domain of granulocyte-colony stimulating factor receptor.". Biochemistry 35 (40): 13040–6. PMID 8855939. doi:10.1021/bi960213u.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548. doi:10.1101/gr.6.9.791.
Ligazóns externas editar
- MeshName - CSF3R+protein,+human [1]