프리즈드-4
Frizzled-4
Fizzled-4(Fz-4)는 FZD4 유전자에 [5][6][7]의해 인간에게 암호화되는 단백질이다.Fz-4는 CD344(분화 클러스터 344)로도 지정되어 있습니다.
기능.
이 유전자는 구겨진 유전자 계열의 일원이다.이 패밀리의 구성원은 윙리스형 MMTV 통합 사이트 패밀리의 시그널링 단백질에 대한 수용체인 7개의 막 통과 도메인 단백질을 인코딩한다.Frizled-4는 기능적으로는 유사하지만 구조적으로는 Wingless형 [8]단백질과 다른 추가적인 리간드 Norrin과 강하게 결합하는 유일한 Frizled 패밀리 대표자이다.노린에 의해 유도되는 FZD4 시그널링은 척추동물 망막의 혈관 발달을 조절하고 귀의 중요한 혈관을 조절한다.대부분의 주름진 수용체는 베타-카테닌 표준 신호 경로와 결합된다.이 단백질은 윙리스형 MMTV 통합 부위 시그널링 경로의 양성 조절제 역할을 할 수 있다.인트로닉 시퀀스를 유지하고 더 짧은 Isoform을 코드하는 전사 변종이 기술되었지만, 그 표현은 다른 실험 [7]증거에 의해 뒷받침되지 않는다.
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레퍼런스
- ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000174804 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG000049791 - 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.
- ^ Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M (Nov 1999). "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochemical and Biophysical Research Communications. 264 (3): 955–61. doi:10.1006/bbrc.1999.1612. PMID 10544037.
- ^ Toomes C, Bottomley HM, Jackson RM, Towns KV, Scott S, Mackey DA, Craig JE, Jiang L, Yang Z, Trembath R, Woodruff G, Gregory-Evans CY, Gregory-Evans K, Parker MJ, Black GC, Downey LM, Zhang K, Inglehearn CF (Apr 2004). "Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q". American Journal of Human Genetics. 74 (4): 721–30. doi:10.1086/383202. PMC 1181948. PMID 15024691.
- ^ a b "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)".
- ^ Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J (March 2004). "Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair". Cell. 116 (6): 883–895. doi:10.1016/S0092-8674(04)00216-8. PMID 15035989. S2CID 18687651.
추가 정보
- Li Y, Fuhrmann C, Schwinger E, Gal A, Laqua H (Jun 1992). "The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11". American Journal of Ophthalmology. 113 (6): 712–3. doi:10.1016/s0002-9394(14)74800-7. PMID 1598965.
- Tanaka S, Akiyoshi T, Mori M, Wands JR, Sugimachi K (Aug 1998). "A novel frizzled gene identified in human esophageal carcinoma mediates APC/beta-catenin signals". Proceedings of the National Academy of Sciences of the United States of America. 95 (17): 10164–9. Bibcode:1998PNAS...9510164T. doi:10.1073/pnas.95.17.10164. PMC 21479. PMID 9707618.
- Sagara N, Kirikoshi H, Terasaki H, Yasuhiko Y, Toda G, Shiokawa K, Katoh M (Apr 2001). "FZD4S, a splicing variant of frizzled-4, encodes a soluble-type positive regulator of the WNT signaling pathway". Biochemical and Biophysical Research Communications. 282 (3): 750–6. doi:10.1006/bbrc.2001.4634. PMID 11401527.
- Takeda S, Kadowaki S, Haga T, Takaesu H, Mitaku S (Jun 2002). "Identification of G protein-coupled receptor genes from the human genome sequence". FEBS Letters. 520 (1–3): 97–101. doi:10.1016/S0014-5793(02)02775-8. PMID 12044878. S2CID 7116392.
- Hering H, Sheng M (Jun 2002). "Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95". FEBS Letters. 521 (1–3): 185–9. doi:10.1016/S0014-5793(02)02831-4. PMID 12067714. S2CID 39243103.
- Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME (Oct 2002). "Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy". Nature Genetics. 32 (2): 326–30. doi:10.1038/ng957. PMID 12172548. S2CID 21389657.
- Chen W, ten Berge D, Brown J, Ahn S, Hu LA, Miller WE, Caron MG, Barak LS, Nusse R, Lefkowitz RJ (Sep 2003). "Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4". Science. 301 (5638): 1391–4. Bibcode:2003Sci...301.1391C. doi:10.1126/science.1082808. PMID 12958364. S2CID 34975427.
- Toomes C, Downey LM, Bottomley HM, Scott S, Woodruff G, Trembath RC, Inglehearn CF (Jan 2004). "Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)". Molecular Vision. 10: 37–42. PMID 14737064.
- Yao R, Natsume Y, Noda T (Aug 2004). "MAGI-3 is involved in the regulation of the JNK signaling pathway as a scaffold protein for frizzled and Ltap". Oncogene. 23 (36): 6023–30. doi:10.1038/sj.onc.1207817. PMID 15195140.
- Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF (Jul 2004). "Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy". Investigative Ophthalmology & Visual Science. 45 (7): 2083–90. doi:10.1167/iovs.03-1044. PMID 15223780.
- Omoto S, Hayashi T, Kitahara K, Takeuchi T, Ueoka Y (Jun 2004). "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)". Ophthalmic Genetics. 25 (2): 81–90. doi:10.1080/13816810490514270. PMID 15370539. S2CID 32817238.
- Yoshida S, Arita R, Yoshida A, Tada H, Emori A, Noda Y, Nakao S, Fujisawa K, Ishibashi T (Oct 2004). "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy". American Journal of Ophthalmology. 138 (4): 670–1. doi:10.1016/j.ajo.2004.05.001. PMID 15488808.
- Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H (Aug 2005). "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes". Human Mutation. 26 (2): 104–12. doi:10.1002/humu.20191. PMID 15981244. S2CID 20271372.
- Nallathambi J, Shukla D, Rajendran A, Namperumalsamy P, Muthulakshmi R, Sundaresan P (2006). "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy". Molecular Vision. 12: 1086–92. PMID 17093393.
- Planutis K, Planutiene M, Moyer MP, Nguyen AV, Pérez CA, Holcombe RF (2007). "Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells". BMC Cell Biology. 8: 12. doi:10.1186/1471-2121-8-12. PMC 1847812. PMID 17386109.
외부 링크
- "Frizzled Receptors: FZD4". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology.]
- 가족성 삼출성 비트레아틴병증, 상염색체 우성의 유전자 리뷰/NCBI/NIH/UW 엔트리
