CCBE1

콜라겐 및 칼슘 결합 EGF 도메인 함유 단백질 1(Collagen and calcium-binding EGF domain-containing protein 1)은 인간의 CCBE1 유전자에 암호화 된 단백질이다. CCBE1은 림프계의 발달과 성장을 조절자이다. CCBE1은 림프계의 주요 성장 인자인 ADAMTS3에 의한 VEGF-C의 단백질 활성화에 필요하다. 제 1형 Hennekam 증후군(인간에서 일반화된 림프성 이형성증)은 CCBE1 유전자의 돌연변이와 관련이 있다. GRCh38: Ensembl release 89: ENSG00000183287 - 앙상블, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000046318 - 앙상블, May 2017 “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》.  “Entrez Gene: collagen and calcium binding EGF domains 1”.  “Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins”. 《DNA Res.》 8 (6): 319–27. December 2001. doi:10.1093/dnares/8.6.319. PMID 11853319.  Jeltsch, Michael; Kaipainen, Arja; Joukov, Vladimir; Meng, Xiaojuan; Lakso, Merja; Rauvala, Heikki; Swartz, Melody; Fukumura, Dai; Jain, Rakesh K. (1997). “Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice”. 《Science》 276 (5317): 1423–25. doi:10.1126/science.276.5317.1423. PMID 9162011.  Jeltsch, Michael; Jha, Sawan Kumar; Tvorogov, Denis; Anisimov, Andrey; Leppänen, Veli-Matti; Holopainen, Tanja; Kivelä, Riikka; Ortega, Sagrario; Kärpanen, Terhi (2014). “CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation”. 《Circulation》 129 (19): 1962–71. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.  “Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans”. 《Nat. Genet.》 41 (12): 1272–4. December 2009. doi:10.1038/ng.484. PMID 19935664.  “Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival”. 《Br. J. Cancer》 102 (1): 87–96. 2010. doi:10.1038/sj.bjc.6605429. PMC 2813742. PMID 19935792.  “Multilocus analysis of GAW15 NARAC chromosome 18 case-control data”. 《BMC Proceedings》. 1 Suppl 1: S11. 2007. doi:10.1186/1753-6561-1-S1-S11. PMC 2367534. PMID 18466450.  “Complete sequencing and characterization of 21,243 full-length human cDNAs”. 《Nat. Genet.》 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.  “Molecular Genetics of Successful Smoking Cessation: Convergent Genome-Wide Association Study Results”. 《Arch. Gen. Psychiatry》 65 (6): 683–93. 2008. doi:10.1001/archpsyc.65.6.683. PMC 2430596. PMID 18519826.  “Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting”. 《Nat. Genet.》 41 (4): 396–8. 2009. doi:10.1038/ng.321. PMID 19287381.  “The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment”. 《Genome Res.》 13 (10): 2265–70. 2003. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.  “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. 2002. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.  “Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia” (PDF). 《Hum. Genet.》 127 (2): 231–41. 2010. doi:10.1007/s00439-009-0766-y. PMID 19911200.