CCBE1: Difference between revisions
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== Function == | == 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]]<ref name=pmid24552833>{{Cite journal| doi = 10.1161/CIRCULATIONAHA.113.002779| volume = 129| issue = 19| pages = 1962-71| last1 = Jeltsch| first1 = Michael| last2 = Jha| first2 = Sawan Kumar| last3 = Tvorogov| first3 = Denis| last4 = Anisimov| first4 = Andrey| last5 = Leppänen| first5 = Veli-Matti| last6 = Holopainen| first6 = Tanja| last7 = Kivelä| first7 = Riikka| last8 = Ortega| first8 = Sagrario| last9 = Kärpanen| first9 = Terhi| last10 = Alitalo| first10 = Kari| title = CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation| journal = Circulation| date = 2014| url = http://dx.doi.org/10.1161/CIRCULATIONAHA.113.002779| pmid = 24552833}}</ref>, which is the main growth factor for the lymphatic system <ref name=pmid9162011>{{Cite journal| doi = 10.1126/science.276.5317.1423| pmid = 9162011 | volume = 276| issue = 5317| pages = 1423-25| last1 = Jeltsch| first1 = Michael| last2 = Kaipainen| first2 = Arja| last3 = Joukov| first3 = Vladimir| last4 = Meng| first4 = Xiaojuan| last5 = Lakso| first5 = Merja| last6 = Rauvala| first6 = Heikki| last7 = Swartz| first7 = Melody| last8 = Fukumura| first8 = Dai| last9 = Jain| first9 = Rakesh K.| last10 = Alitalo| first10 = Kari| title = Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice| journal = Science| date = 1997| url = http://dx.doi.org/10.1126/science.276.5317.1423}}</ref>. | |||
== Clinical significance == | == Clinical significance == | ||
[[Hennekam syndrome]] type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene<ref name="pmid19935664">{{cite journal |vauthors=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 | title = Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans | journal = Nat. Genet. | volume = 41 | issue = 12 | pages = 1272–4 |date=December 2009 | pmid = 19935664 | doi = 10.1038/ng.484 | url = }}</ref>, and the molecular etiology of the disease has been elucidated<ref name=pmid24552833></ref>. | |||
==References== | ==References== | ||
Revision as of 11:10, 28 December 2018
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Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.[1][2]
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[3], which is the main growth factor for the lymphatic system [4].
Clinical significance
Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene[5], and the molecular etiology of the disease has been elucidated[3].
References
- ↑ "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.
- ↑ 3.0 3.1 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.
External links
- Human CCBE1 genome location and CCBE1 gene details page in the UCSC Genome Browser.
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. 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.
- 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. 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". Hum. Genet. 127 (2): 231–41. doi:10.1007/s00439-009-0766-y. PMID 19911200.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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