FZD4

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Uvojiti receptor 4
Identifikatori
Simboli FZD4; CD344; EVR1; FEVR; FZD4S; Fz-4; FzE4
Vanjski ID OMIM604579 MGI108520 HomoloGene7325 IUPHAR: FZD4 GeneCards: FZD4 Gene
Pregled RNK izražavanja
PBB GE FZD4 218665 at tn.png
podaci
Ortolozi
Vrsta Čovek Miš
Entrez 8322 14366
Ensembl ENSG00000174804 ENSMUSG00000049791
UniProt Q9ULV1 Q61088
RefSeq (mRNA) NM_012193.3 NM_008055.4
RefSeq (protein) NP_036325.2 NP_032081.3
Lokacija (UCSC) Chr 11:
86.66 - 86.67 Mb
Chr 7:
96.55 - 96.56 Mb
PubMed pretraga [1] [2]

Uvojiti-4 je protein koji je kod ljudi kodiran FZD4 genom.[1][2][3] FZD4 je takođe označen sa CD344 (klaster diferencijacije 344).

Članovi familije „uvojitih“ proteina su 7-transmembranski receptori za Wnt signalne proteine. FZD4 protein sadrži signalni peptid, cisteinom bogati domen u N-terminalnom ekstracelularnom regionu, 7 transmembranski domen, i C-terminalni PDZ vezujući motiv. Uvojiti-4 je jedini predstavnik family „frizzeled“ receptora koji se potentno vezuje za ligand norin. Taj ligand je funkcionalno sličan sa strukturno različitim Wingless tipom proteina. FZD4 signalizacija indukovana norinom reguliše vaskularni razvoj retine kičmenjaka i kontroliše krvne sudove uva. Većina uvojitih receptora je spregnuta sa beta-kateninskim kanoničkim signalnim putem. Ovaj protein potencijalno učestvuje kao pozitivni regulator signalnog puta Wingless tipa MMTV mesta integracije.[3]

Reference[uredi - уреди]

  1. Kirikoshi H, Sagara N, Koike J, Tanaka K, Sekihara H, Hirai M, Katoh M (Dec 1999). "Molecular cloning and characterization of human Frizzled-4 on chromosome 11q14-q21". Biochem Biophys Res Commun 264 (3): 955–61. DOI:10.1006/bbrc.1999.1612. PMID 10544037. 
  2. 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 (Mar 2004). "Mutations in LRP5 or FZD4 Underlie the Common Familial Exudative Vitreoretinopathy Locus on Chromosome 11q". Am J Hum Genet 74 (4): 721–30. DOI:10.1086/383202. PMID 15024691. 
  3. 3.0 3.1 "Entrez Gene: FZD4 frizzled homolog 4 (Drosophila)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8322. 

Literatura[uredi - уреди]

  • Li Y (1992). "The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11". Am. J. Ophthalmol. 113 (6): 712–3. PMID 1598965. 
  • Tanaka S (1998). "A novel frizzled gene identified in human esophageal carcinoma mediates APC/β-catenin signals". Proc. Natl. Acad. Sci. U.S.A. 95 (17): 10164–9. DOI:10.1073/pnas.95.17.10164. PMID 9707618. 
  • Sagara N (2001). "FZD4S, a splicing variant of frizzled-4, encodes a soluble-type positive regulator of the WNT signaling pathway". Biochem. Biophys. Res. Commun. 282 (3): 750–6. DOI:10.1006/bbrc.2001.4634. PMID 11401527. 
  • Takeda S (2002). "Identification of G protein-coupled receptor genes from the human genome sequence". FEBS Lett. 520 (1–3): 97–101. DOI:10.1016/S0014-5793(02)02775-8. PMID 12044878. 
  • Hering H, Sheng M (2002). "Direct interaction of Frizzled-1, -2, -4, and -7 with PDZ domains of PSD-95". FEBS Lett. 521 (1–3): 185–9. DOI:10.1016/S0014-5793(02)02831-4. PMID 12067714. 
  • Robitaille J (2002). "Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy". Nat. Genet. 32 (2): 326–30. DOI:10.1038/ng957. PMID 12172548. 
  • Strausberg RL (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. DOI:10.1073/pnas.242603899. PMID 12477932. 
  • Chen W (2003). "Dishevelled 2 recruits beta-arrestin 2 to mediate Wnt5A-stimulated endocytosis of Frizzled 4". Science 301 (5638): 1391–4. DOI:10.1126/science.1082808. PMID 12958364. 
  • Toomes C (2004). "Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)". Mol. Vis. 10: 37–42. PMID 14737064. 
  • Yao R, Natsume Y, Noda T (2005). "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 (2004). "Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy". Invest. Ophthalmol. Vis. Sci. 45 (7): 2083–90. DOI:10.1167/iovs.03-1044. PMID 15223780. 
  • Omoto S (2004). "Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R)". Ophthalmic Genet. 25 (2): 81–90. DOI:10.1080/13816810490514270. PMID 15370539. 
  • Yoshida S (2004). "Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy". Am. J. Ophthalmol. 138 (4): 670–1. DOI:10.1016/j.ajo.2004.05.001. PMID 15488808. 
  • Gerhard DS (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. DOI:10.1101/gr.2596504. PMID 15489334. 
  • Qin M (2006). "Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes". Hum. Mutat. 26 (2): 104–12. DOI:10.1002/humu.20191. PMID 15981244. 
  • Nallathambi J (2006). "Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy". Mol. Vis. 12: 1086–92. PMID 17093393. 
  • Planutis K (2007). "Regulation of norrin receptor frizzled-4 by Wnt2 in colon-derived cells". BMC Cell Biol. 8: 12. DOI:10.1186/1471-2121-8-12. PMID 17386109. 

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