Protein-coding gene in the species Homo sapiens
CCBE1 |
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Identifiers |
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Aliases | CCBE1, HKLLS1, collagen and calcium binding EGF domains 1 |
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External IDs | OMIM: 612753; MGI: 2445053; HomoloGene: 15852; GeneCards: CCBE1; OMA:CCBE1 - orthologs |
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Gene location (Human) |
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![Chromosome 18 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/f/f2/Ideogram_human_chromosome_18.svg/300px-Ideogram_human_chromosome_18.svg.png) | Chr. | Chromosome 18 (human)[1] |
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| Band | 18q21.32 | Start | 59,430,939 bp[1] |
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End | 59,697,662 bp[1] |
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Gene location (Mouse) |
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![Chromosome 18 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/5/5c/Ideogram_house_mouse_chromosome_18.svg/260px-Ideogram_house_mouse_chromosome_18.svg.png) | Chr. | Chromosome 18 (mouse)[2] |
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| Band | 18|18 E1 | Start | 66,178,373 bp[2] |
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End | 66,435,812 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| 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
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 18: 59.43 – 59.7 Mb | Chr 18: 66.18 – 66.44 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ 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.