CCBE1

CCBE1
Identifiers
Aliases	CCBE1 , HKLLS1, collagen and calcium binding EGF domains 1
External IDs	OMIM: 612753; MGI: 2445053; HomoloGene: 15852; GeneCards: CCBE1; OMA:CCBE1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) [1] Band 18q21.32 Start 59,430,939 bp [1] End 59,697,662 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 E1 Start 66,178,373 bp [2] End 66,435,812 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte lower lobe of lung buccal mucosa cell muscle layer of sigmoid colon left ovary right lung left adrenal gland left adrenal cortex germinal epithelium stromal cell of endometrium Top expressed in pericardium pericardial cavity endothelial cell of lymphatic vessel anterior cardinal vein septum transversum epithelium of lens prostate retinal pigment epithelium lumbar subsegment of spinal cord lobe of prostate More reference expression data BioGPS n/a
Gene ontology Molecular function protease binding calcium ion binding protein binding collagen binding Cellular component extracellular region collagen extracellular space extracellular matrix Biological process positive regulation of endothelial cell migration multicellular organism development positive regulation of vascular endothelial growth factor production sprouting angiogenesis positive regulation of lymphangiogenesis positive regulation of protein processing angiogenesis positive regulation of vascular endothelial growth factor signaling pathway venous blood vessel morphogenesis lymphangiogenesis positive regulation of angiogenesis lymph vessel development lung development respiratory gaseous exchange by respiratory system respiratory system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 147372 320924 Ensembl ENSG00000183287 ENSMUSG00000046318 UniProt Q6UXH8 Q3MI99 RefSeq (mRNA) NM_133459 NM_178793 RefSeq (protein) NP_597716 NP_848908 Location (UCSC) Chr 18: 59.43 – 59.7 Mb Chr 18: 66.18 – 66.44 Mb PubMed search [3] [4]
Wikidata
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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. ^{[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] which is the main growth factor for the lymphatic system. ^[8]

Clinical significance

Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene, ^[9] and the molecular etiology of the disease has been elucidated. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000183287 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000046318 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: collagen and calcium binding EGF domains 1".
6. 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.
7. 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.
8. 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.
9. 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

• 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. 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.