과립구 군집 자극 인자 수용체
Granulocyte colony-stimulating factor receptor| CSF3R | |||||||||||||||||||||||||
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| 식별자 | |||||||||||||||||||||||||
| 별칭 | CSF3R, CD114, GCSFR, 군집 자극 인자 3 수용체, SCN7 | ||||||||||||||||||||||||
| 외부 ID | OMIM: 138971 MGI: 1339755 HomoloGene: 601 GeneCard: CSF3R | ||||||||||||||||||||||||
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| 직교체 | |||||||||||||||||||||||||
| 종 | 인간 | 마우스 | |||||||||||||||||||||||
| 엔트레스 | |||||||||||||||||||||||||
| 앙상블 | |||||||||||||||||||||||||
| 유니프로트 | |||||||||||||||||||||||||
| RefSeq(mRNA) | |||||||||||||||||||||||||
| RefSeq(단백질) | |||||||||||||||||||||||||
| 위치(UCSC) | Cr 1: 36.47 – 36.48Mb | Chr 4: 125.92 – 125.94Mb | |||||||||||||||||||||||
| PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
| 위키다타 | |||||||||||||||||||||||||
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CD114(Cluster of Dividation 114)로도 알려진 과립구 군집 자극 인자 수용체(G-CSF-R)는 인간에서 CSF3R 유전자에 의해 인코딩되는 단백질이다.[5]G-CSF-R은 과립구 군집 자극 인자(G-CSF)를 위한 세포 표면 수용체다.[6]G-CSF 수용체는 조모피에틴 수용체 계열로 알려진 사이토카인 수용체 계열에 속한다.과립구 군집 자극 인자 수용체는 골수의 전구세포에 존재하며, G-CSF에 의한 자극에 대응하여 성숙한 중성지방 과립구와 대식세포로 세포 증식과 분화를 시작한다.
G-CSF-R은 세포외 리간드 바인딩 부분, 투과 영역, 신호 전도를 담당하는 세포질 부분으로 구성된 투과형 수용체다.GCSF-R 리간드 바인딩은 Jak, Lyn, STAT, Erk1/2 등의 단백질을 통한 수용체 조광 및 신호 전달과 관련이 있다.
이소폼스
등급 IV ISOform은 내부화 및 분화 신호 모두에 결함이 있다.[7]
임상적 유의성
이 유전자의 돌연변이는 심각한 선천성 중성미자로 알려져 있는 코스트만 증후군의 원인이다.[8]
이 수용체의 세포 내 부분의 돌연변이는 특정 유형의 백혈병과도 관련이 있다.[9]
임상 의학에서는 G-CSFR isoform IV가 과도하게 눌려 있을 때 적어도 어린이와 청소년, 아마도 성인에서는 GCSF 사용을 피해야 한다는 제안이 있다.[10]
상호작용
Granulocyte 군체 자극 인자 수용체가 Grb2, [11]HCK[12], SHC1과 상호작용하는 것으로 나타났다.[11]
참고 항목
참조
- ^ a b c GRCh38: 앙상블 릴리스 89: ENSG00000119535 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000028859 - 앙상블, 2017년 5월
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Tweardy DJ, Anderson K, Cannizzaro LA, Steinman RA, Croce CM, Huebner K (March 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. doi:10.1182/blood.V79.5.1148.1148. PMID 1371413.
- ^ "Entrez Gene: CSF3R colony stimulating factor 3 receptor (granulocyte)".
- ^ Mehta, H M; Futami, M; Glaubach, T; Lee, D W; Andolina, J R; Yang, Q; Whichard, Z; Quinn, M; Lu, H F (May 2014). "Alternatively spliced, truncated GCSF receptor promotes leukemogenic properties and sensitivity to JAK inhibition". Leukemia. 28 (5): 1041–1051. doi:10.1038/leu.2013.321. ISSN 1476-5551. PMC 5875430. PMID 24170028.
- ^ Zeidler C, Welte K (April 2002). "Kostmann syndrome and severe congenital neutropenia". Semin. Hematol. 39 (2): 82–8. doi:10.1053/shem.2002.31913. PMID 11957189.
- ^ Beekman R, Touw IP (June 2010). "G-CSF and its receptor in myeloid malignancy". Blood. 115 (25): 5131–6. doi:10.1182/blood-2010-01-234120. PMID 20237318.
- ^ Ehlers S, Herbst C, Zimmermann M, Scharn N, Germeshausen M, von Neuhoff N, Zwaan CM, Reinhardt K, Hollink IH, Klusmann JH, Lehrnbecher T, Roettgers S, Stary J, Dworzak M, Welte K, Creutzig U, Reinhardt D (May 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. doi:10.1200/JCO.2009.25.9010. PMID 20406937.
- ^ a b Ward AC, Monkhouse JL, Hamilton JA, Csar XF (November 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. doi:10.1016/S0167-4889(98)00120-7. PMID 9824671.
- ^ Ward AC, Monkhouse JL, Csar XF, Touw IP, Bello PA (October 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. doi:10.1006/bbrc.1998.9441. PMID 9790917.
추가 읽기
- Tsuji K, Ebihara Y (2002). "Expression of G-CSF receptor on myeloid progenitors". Leuk. Lymphoma. 42 (6): 1351–7. doi:10.3109/10428190109097763. PMID 11911419. S2CID 8010177.
- 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. doi:10.1080/10428190410001714034. PMID 15370243. S2CID 36625508.
- 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. doi:10.1182/blood.V79.5.1148.1148. 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. doi:10.1073/pnas.87.22.8702. PMC 55027. PMID 1701053.
- Fukunaga R, Ishizaka-Ikeda E, Pan CX, Seto Y, Nagata S (1991). "Functional domains of the granulocyte colony-stimulating factor receptor". EMBO J. 10 (10): 2855–65. doi:10.1002/j.1460-2075.1991.tb07835.x. PMC 452996. PMID 1717255.
- Inazawa J, Fukunaga R, Seto Y, Nakagawa H, Misawa S, Abe T, Nagata S (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. doi:10.1016/0888-7543(91)90202-P. PMID 1833306.
- Larsen A, Davis T, Curtis BM, Gimpel S, Sims JE, Cosman D, Park L, Sorensen E, March CJ, Smith CA (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. doi:10.1084/jem.172.6.1559. PMC 2188748. PMID 2147944.
- Uzumaki H, Okabe T, Sasaki N, Hagiwara K, Takaku F, Tobita M, Yasukawa K, Ito S, Umezawa Y (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. doi:10.1073/pnas.86.23.9323. PMC 298487. PMID 2480598.
- Nicholson SE, Oates AC, Harpur AG, Ziemiecki A, Wilks AF, Layton JE (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. Bibcode:1994PNAS...91.2985N. doi:10.1073/pnas.91.8.2985. PMC 43499. PMID 7512720.
- Dong F, Hoefsloot LH, Schelen AM, Broeders CA, Meijer Y, Veerman AJ, Touw IP, Löwenberg B (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. Bibcode:1994PNAS...91.4480D. doi:10.1073/pnas.91.10.4480. PMC 43809. PMID 7514305.
- Dong F, Brynes RK, Tidow N, Welte K, Löwenberg B, Touw IP (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. doi:10.1056/NEJM199508243330804. hdl:1765/60338. PMID 7542747.
- Shimoda K, Okamura S, Harada N, Kondo S, Okamura T, Niho Y (1993). "Identification of a functional receptor for granulocyte colony-stimulating factor on platelets". J. Clin. Invest. 91 (4): 1310–3. doi:10.1172/JCI116330. PMC 288100. PMID 7682568.
- 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. doi:10.1074/jbc.270.23.13814. PMID 7775438.
- Corey SJ, Burkhardt AL, Bolen JB, Geahlen RL, Tkatch LS, Tweardy DJ (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. Bibcode:1994PNAS...91.4683C. doi:10.1073/pnas.91.11.4683. PMC 43852. PMID 8197119.
- Haniu M, Horan T, Arakawa T, Le J, Katta V, Rohde MF (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. doi:10.1006/abbi.1995.0047. PMID 8554326.
- Horan T, Wen J, Narhi L, Parker V, Garcia A, Arakawa T, Philo J (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. doi:10.1021/bi9525841. PMID 8664280.
- McCracken S, Layton JE, Shorter SC, Starkey PM, Barlow DH, Mardon HJ (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. doi:10.1677/joe.0.1490249. PMID 8708536.
- Haniu M, Horan T, Arakawa T, Le J, Katta V, Hara S, Rohde MF (1996). "Disulfide structure and N-glycosylation sites of an extracellular domain of granulocyte-colony stimulating factor receptor". Biochemistry. 35 (40): 13040–6. doi:10.1021/bi960213u. PMID 8855939.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
외부 링크
- CSF3R+단백질,+인간(US National Library of Medicine Medical Pubject Headings, MesSH)
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