CCBE1

CCBE1
Identifiers
Aliases	CCBE1, HKLLS1, collagen and calcium binding EGF domains 1
External IDs	OMIM: 612753; MGI: 2445053; GeneCards: CCBE1
Gene location (Human)
Chr.	Chromosome 18 (human)
End	59,697,662 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	66,435,812 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	147372
	320924
	ENSG00000183287
	ENSMUSG00000046318
	Q6UXH8
	Q3MI99
	NM_133459
	NM_178793
	NP_597716
	NP_848908
	Wikidata
View/Edit Human	View/Edit Mouse

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 2 3 GRCh38: Ensembl release 89: ENSG00000183287 – Ensembl, May 2017
1 2 3 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 Research. 8 (6): 319–327. doi:10.1093/dnares/8.6.319. PMID 11853319.
1 2 Jeltsch M, Jha SK, Tvorogov D, Anisimov A, Leppänen VM, Holopainen T, et al. (May 2014). "CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation". Circulation. 129 (19): 1962–1971. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.
↑ Jeltsch M, Kaipainen A, Joukov V, Meng X, Lakso M, Rauvala H, et al. (May 1997). "Hyperplasia of lymphatic vessels in VEGF-C transgenic mice". Science. 276 (5317). New York, N.Y.: 1423–1425. doi:10.1126/science.276.5317.1423. PMID 9162011.
↑ Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, et al. (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nature Genetics. 41 (12): 1272–1274. 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.

Barton CA, Gloss BS, Qu W, Statham AL, Hacker NF, Sutherland RL, et al. (January 2010). "Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival". British Journal of 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.
Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, et al. (June 2008). "Molecular genetics of successful smoking cessation: convergent genome-wide association study results". Archives of General Psychiatry. 65 (6): 683–693. doi:10.1001/archpsyc.65.6.683. PMC 2430596. PMID 18519826.
Hogan BM, Bos FL, Bussmann J, Witte M, Chi NC, Duckers HJ, et al. (April 2009). "Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting". Nature Genetics. 41 (4): 396–398. doi:10.1038/ng.321. PMID 19287381. S2CID 205349555.
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, et al. (October 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research. 13 (10): 2265–2270. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, et al. (February 2010). "Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia". Human Genetics. 127 (2): 231–241. 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.

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000183287 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] "Entrez Gene: collagen and calcium binding EGF domains 1".

[Nagase_2001-6] 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 Research. 8 (6): 319–327. doi:10.1093/dnares/8.6.319. PMID 11853319.

[Jeltsch_2014-7] 1 2 Jeltsch M, Jha SK, Tvorogov D, Anisimov A, Leppänen VM, Holopainen T, et al. (May 2014). "CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation". Circulation. 129 (19): 1962–1971. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.

[Jeltsch_1997-8] Jeltsch M, Kaipainen A, Joukov V, Meng X, Lakso M, Rauvala H, et al. (May 1997). "Hyperplasia of lymphatic vessels in VEGF-C transgenic mice". Science. 276 (5317). New York, N.Y.: 1423–1425. doi:10.1126/science.276.5317.1423. PMID 9162011.

[Alders_2009-9] Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, et al. (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nature Genetics. 41 (12): 1272–1274. doi:10.1038/ng.484. PMID 19935664. S2CID 205356254.

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CCBE1

Function

Clinical significance

References

External links

Further reading