CCBE1

Collagen and calcium binding EGF domains 1
Identifiers
Symbols	CCBE1 ; HKLLS1
External IDs	OMIM: 612753 MGI: 2445053 HomoloGene: 15852 GeneCards: CCBE1 Gene
Gene ontology Molecular function • protease binding • calcium ion binding • protein binding • collagen binding Cellular component • proteinaceous extracellular matrix • collagen trimer • extracellular space Biological process • lymphangiogenesis • sprouting angiogenesis • positive regulation of vascular endothelial growth factor production • positive regulation of endothelial cell migration • positive regulation of protein processing • positive regulation of angiogenesis • venous blood vessel morphogenesis • positive regulation of vascular endothelial growth factor signaling pathway • positive regulation of lymphangiogenesis 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: 66.05 – 66.3 Mb
PubMed search

Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.^[1][2]

Function

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumor suppressor.^[1]

Clinical significance

Mutation in the CCBE1 gene may be associated with Hennekam syndrome, a generalized lymphatic dysplasia in humans .^[3]

References

1. "Entrez Gene: collagen and calcium binding EGF domains 1".
2. 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. 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.

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 Proc. 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.