Protein-coding gene in the species Homo sapiens
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene .[ 5] [ 6]
Function CCBE1 is a regulator of the development and growth of the lymphatic system . CCBE1 is necessary for the proteolytic activation of VEGF-C by ADAMTS3 ,[ 7] [ 8]
Clinical significance Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene,[ 9] [ 7]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000183287 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046318 – Ensembl , 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" .^ Nagase T, Kikuno R, Ohara O (December 2001). "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. doi :10.1093/dnares/8.6.319 PMID 11853319 . ^ a b Jeltsch, Michael; Jha, Sawan Kumar; Tvorogov, Denis; Anisimov, Andrey; Leppänen, Veli-Matti; Holopainen, Tanja; Kivelä, Riikka; Ortega, Sagrario; Kärpanen, Terhi; Alitalo, Kari (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 . ^ Jeltsch, Michael; Kaipainen, Arja; Joukov, Vladimir; Meng, Xiaojuan; Lakso, Merja; Rauvala, Heikki; Swartz, Melody; Fukumura, Dai; Jain, Rakesh K.; Alitalo, Kari (1997). "Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice". Science . 276 (5317): 1423–25. doi :10.1126/science.276.5317.1423 . PMID 9162011 . ^ Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nat. Genet . 41 (12): 1272–4. doi :10.1038/ng.484 . PMID 19935664 . S2CID 205356254 .
External links
Further reading
Barton CA, Gloss BS, Qu W, et al. (2010). "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. doi :10.1038/sj.bjc.6605429 . PMC 2813742 PMID 19935792 . Browning SR, Thomas J (2007). "Multilocus analysis of GAW15 NARAC chromosome 18 case-control data" . BMC Proceedings . 1 (Suppl 1): S11. doi :10.1186/1753-6561-1-S1-S11 PMC 2367534 PMID 18466450 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Uhl GR, Liu QR, Drgon T, et al. (2008). "Molecular Genetics of Successful Smoking Cessation: Convergent Genome-Wide Association Study Results" . Arch. Gen. Psychiatry . 65 (6): 683–93. doi :10.1001/archpsyc.65.6.683 . PMC 2430596 PMID 18519826 . Hogan BM, Bos FL, Bussmann J, et al. (2009). "Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting" . Nat. Genet . 41 (4): 396–8. doi :10.1038/ng.321 PMID 19287381 . S2CID 205349555 . Clark HF, Gurney AL, Abaya E, et al. (2003). "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. doi :10.1101/gr.1293003 . PMC 403697 PMID 12975309 . Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Connell F, Kalidas K, Ostergaard P, et al. (2010). "Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia" (PDF) . Hum. Genet . 127 (2): 231–41. doi :10.1007/s00439-009-0766-y . PMID 19911200 . S2CID 6076175 . This article incorporates text from the United States National Library of Medicine , which is in the public domain .
