CCBE1

Last updated
CCBE1
Identifiers
Aliases CCBE1 , HKLLS1, collagen and calcium binding EGF domains 1
External IDs OMIM: 612753 MGI: 2445053 HomoloGene: 15852 GeneCards: CCBE1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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]

Contents

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]


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Michael Jeltsch is a German-Finnish researcher in the field of Biochemistry. He is an associate professor at the University of Helsinki, Finland. He has more than 70 publications. Jeltsch was the first to show that VEGF-C and VEGF-D are the principal growth factors for the lymphatic vasculature and his research focuses on cancer drug targets and lymphangiogenesis. He has also contributed to other seminal publications in cell biology with transgenesis, protein engineering, recombinant production and purification. In 2006, he developed a synthetic super-VEGF, using a library of VEGF hybrid molecules using a novel, non-random DNA family shuffling method.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183287 - Ensembl, May 2017
  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.
  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. 1 2 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.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.